MX2018009823A - Metodos y sistemas para la deteccion de cariotipos anormales. - Google Patents

Metodos y sistemas para la deteccion de cariotipos anormales.

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Publication number
MX2018009823A
MX2018009823A MX2018009823A MX2018009823A MX2018009823A MX 2018009823 A MX2018009823 A MX 2018009823A MX 2018009823 A MX2018009823 A MX 2018009823A MX 2018009823 A MX2018009823 A MX 2018009823A MX 2018009823 A MX2018009823 A MX 2018009823A
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Mexico
Prior art keywords
systems
methods
detection
abnormal karyotypes
abnormal
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MX2018009823A
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English (en)
Inventor
Reid Jeffrey
HABEGGER Lukas
Maxwell Evan
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Regeneron Pharma
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Publication date
Application filed by Regeneron Pharma filed Critical Regeneron Pharma
Publication of MX2018009823A publication Critical patent/MX2018009823A/es

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    • C—CHEMISTRY; METALLURGY
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    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medical Informatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Data Mining & Analysis (AREA)
  • Organic Chemistry (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Software Systems (AREA)
  • Public Health (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Cell Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)

Abstract

Se describen métodos y sistemas para detectar cariotipos anormales. Un método de ejemplo puede comprender determinar los datos de cobertura de lectura, las distribuciones de equilibrio de alelos de los SNP heterocigóticos y los segmentos cromosómicos en donde no se observa heterocigosidad. Los métodos y sistemas pueden entonces determinar una o más métricas que pueden ser indicativas de cariotipos anormales.
MX2018009823A 2016-02-12 2017-02-13 Metodos y sistemas para la deteccion de cariotipos anormales. MX2018009823A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201662294669P 2016-02-12 2016-02-12
PCT/US2017/017734 WO2017139801A1 (en) 2016-02-12 2017-02-13 Methods and systems for detection of abnormal karyotypes

Publications (1)

Publication Number Publication Date
MX2018009823A true MX2018009823A (es) 2019-02-20

Family

ID=58185625

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2018009823A MX2018009823A (es) 2016-02-12 2017-02-13 Metodos y sistemas para la deteccion de cariotipos anormales.

Country Status (12)

Country Link
US (2) US12071669B2 (es)
EP (1) EP3414691A1 (es)
JP (2) JP6765433B2 (es)
KR (2) KR102465122B1 (es)
CN (2) CN109074426B (es)
AU (2) AU2017218149B2 (es)
CA (1) CA3014292A1 (es)
HK (1) HK1259478A1 (es)
IL (2) IL261216B (es)
MX (1) MX2018009823A (es)
SG (1) SG11201806812SA (es)
WO (1) WO2017139801A1 (es)

Families Citing this family (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US12071669B2 (en) 2016-02-12 2024-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
WO2019083594A1 (en) * 2017-08-21 2019-05-02 The General Hospital Corporation COMPOSITIONS AND METHODS FOR CLASSIFYING TUMORS WITH INSTABILITY OF MICROSATELLITES
EP3948872A4 (en) * 2019-03-28 2023-04-26 Phase Genomics Inc. SYSTEMS AND METHODS FOR KARYOTYPING BY SEQUENCING
CN112037174B (zh) * 2020-08-05 2024-03-01 湖南自兴智慧医疗科技有限公司 染色体异常检测方法、装置、设备及计算机可读存储介质
US20220108773A1 (en) * 2020-10-07 2022-04-07 Baidu Usa Llc Systems and methods for genome analysis and visualization
CN112599189B (zh) * 2020-12-29 2024-06-18 北京优迅医学检验实验室有限公司 一种全基因组测序的数据质量评估方法及其应用
CN112687336B (zh) * 2021-03-11 2021-06-22 北京贝瑞和康生物技术有限公司 确定upd类型的方法、计算设备和存储介质
CN113113085B (zh) * 2021-03-15 2022-08-19 杭州杰毅生物技术有限公司 基于智能宏基因组测序数据肿瘤检测的分析系统及方法
CN114049914B (zh) * 2022-01-14 2022-04-15 苏州贝康医疗器械有限公司 一体化检测cnv、单亲二体、三倍体和roh的方法及装置
CN114743593B (zh) * 2022-06-13 2023-02-24 北京橡鑫生物科技有限公司 一种基于尿液进行前列腺癌早期筛查模型的构建方法、筛查模型及试剂盒

Family Cites Families (425)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5840484A (en) 1992-07-17 1998-11-24 Incyte Pharmaceuticals, Inc. Comparative gene transcript analysis
US8078407B1 (en) 1997-03-28 2011-12-13 Health Hero Network, Inc. System and method for identifying disease-influencing genes
US6434542B1 (en) 1997-04-17 2002-08-13 Smithkline Beecham Corporation Statistical deconvoluting of mixtures
US7734656B2 (en) 1998-02-24 2010-06-08 Luc Bessette System and method for electronically managing medical data files in order to facilitate genetic research
US6787308B2 (en) 1998-07-30 2004-09-07 Solexa Ltd. Arrayed biomolecules and their use in sequencing
US6703228B1 (en) 1998-09-25 2004-03-09 Massachusetts Institute Of Technology Methods and products related to genotyping and DNA analysis
US20010034023A1 (en) 1999-04-26 2001-10-25 Stanton Vincent P. Gene sequence variations with utility in determining the treatment of disease, in genes relating to drug processing
WO2001001218A2 (en) 1999-06-25 2001-01-04 Genaissance Pharmaceuticals, Inc. Methods for obtaining and using haplotype data
US7332275B2 (en) 1999-10-13 2008-02-19 Sequenom, Inc. Methods for detecting methylated nucleotides
EP1228370A2 (en) 1999-11-10 2002-08-07 Structural Bioinformatics Inc. Computationally derived protein structures in pharmacogenomics
US6658396B1 (en) 1999-11-29 2003-12-02 Tang Sharon S Neural network drug dosage estimation
US20030208454A1 (en) 2000-03-16 2003-11-06 Rienhoff Hugh Y. Method and system for populating a database for further medical characterization
US6532467B1 (en) 2000-04-10 2003-03-11 Sas Institute Inc. Method for selecting node variables in a binary decision tree structure
US20030195707A1 (en) 2000-05-25 2003-10-16 Schork Nicholas J Methods of dna marker-based genetic analysis using estimated haplotype frequencies and uses thereof
US20040248092A1 (en) 2000-05-26 2004-12-09 Vance Jeffrey M Methods of screening for parkinsons's disease
AU2001273661A1 (en) 2000-06-30 2002-01-14 Duke University Methods of screening for alzheimer's disease
WO2002017207A2 (en) 2000-08-23 2002-02-28 Arexis Ab System and method of storing genetic information
AU2001275020A1 (en) 2000-09-21 2002-04-02 Theradoc.Com, Inc. Systems and methods for manipulating medical data via a decision support system
US6596541B2 (en) 2000-10-31 2003-07-22 Regeneron Pharmaceuticals, Inc. Methods of modifying eukaryotic cells
US7105348B2 (en) 2000-10-31 2006-09-12 Regeneron Pharmaceuticals, Inc. Methods of modifying eukaryotic cells
US6586251B2 (en) 2000-10-31 2003-07-01 Regeneron Pharmaceuticals, Inc. Methods of modifying eukaryotic cells
US8010295B1 (en) 2000-11-06 2011-08-30 IB Security Holders LLC System and method for selectively classifying a population
US20030195706A1 (en) 2000-11-20 2003-10-16 Michael Korenberg Method for classifying genetic data
US20030104470A1 (en) 2001-08-14 2003-06-05 Third Wave Technologies, Inc. Electronic medical record, library of electronic medical records having polymorphism data, and computer systems and methods for use thereof
FR2817559B1 (fr) 2000-12-06 2003-12-12 Genodyssee Procede de determination d'un ou plusieurs polymorphisme(s) fontionnel(s) dans la sequence nucleique d'un gene "candidat" fonctionnel preselectionne et ses applications
US20020119451A1 (en) 2000-12-15 2002-08-29 Usuka Jonathan A. System and method for predicting chromosomal regions that control phenotypic traits
US20020082869A1 (en) 2000-12-27 2002-06-27 Gateway, Inc. Method and system for providing and updating customized health care information based on an individual's genome
US7957907B2 (en) 2001-03-30 2011-06-07 Sorenson Molecular Genealogy Foundation Method for molecular genealogical research
AU785425B2 (en) 2001-03-30 2007-05-17 Genetic Technologies Limited Methods of genomic analysis
US20020187483A1 (en) 2001-04-20 2002-12-12 Cerner Corporation Computer system for providing information about the risk of an atypical clinical event based upon genetic information
WO2002090589A1 (en) 2001-05-03 2002-11-14 Genomed, Llc Method to find disease-associated snps and genes
US7065451B2 (en) 2001-05-24 2006-06-20 Board Of Regents, The University Of Texas System Computer-based method for creating collections of sequences from a dataset of sequence identifiers corresponding to natural complex biopolymer sequences and linked to corresponding annotations
CA2872499C (en) 2001-05-25 2016-07-05 Hitachi, Ltd. Information processing system using nucleotide sequence related information
US6909971B2 (en) 2001-06-08 2005-06-21 Licentia Oy Method for gene mapping from chromosome and phenotype data
FI114551B (fi) 2001-06-13 2004-11-15 Licentia Oy Menetelmä, muistiväline ja tietokonejärjestelmä geenipaikannuksen kromosomi- ja fenotyyppidatasta
US20030113756A1 (en) 2001-07-18 2003-06-19 Lawrence Mertz Methods of providing customized gene annotation reports
US20030101000A1 (en) 2001-07-24 2003-05-29 Bader Joel S. Family based tests of association using pooled DNA and SNP markers
WO2003014879A2 (en) 2001-08-08 2003-02-20 Curagen Corporation System and method for identifying a genetic risk factor for a disease or pathology
US7529685B2 (en) 2001-08-28 2009-05-05 Md Datacor, Inc. System, method, and apparatus for storing, retrieving, and integrating clinical, diagnostic, genomic, and therapeutic data
US7461006B2 (en) 2001-08-29 2008-12-02 Victor Gogolak Method and system for the analysis and association of patient-specific and population-based genomic data with drug safety adverse event data
US20040142325A1 (en) 2001-09-14 2004-07-22 Liat Mintz Methods and systems for annotating biomolecular sequences
US20030211504A1 (en) 2001-10-09 2003-11-13 Kim Fechtel Methods for identifying nucleic acid polymorphisms
US20130246079A1 (en) 2012-03-14 2013-09-19 Mark A. Hoffman Determining a potential for atypical clinical events when selecting clinical agents
US20040086888A1 (en) 2001-10-18 2004-05-06 Kornblith Paul L Method for tandem genomic/proteomic analysis of proliferating cells
AU2002363329A1 (en) 2001-11-06 2003-05-19 Elizabeth Gray Pharmacogenomics-based system for clinical applications
US20030138778A1 (en) 2001-11-30 2003-07-24 Garner Harold R. Prediction of disease-causing alleles from sequence context
JP2006501528A (ja) 2001-12-03 2006-01-12 ディーエヌエー・プリント・ジェノミックス・インコーポレイテッド コレスポンデンス分析および一次／二次曲線分析に基づく複合遺伝子学的分類の方法および装置
US7107155B2 (en) 2001-12-03 2006-09-12 Dnaprint Genomics, Inc. Methods for the identification of genetic features for complex genetics classifiers
US20040267458A1 (en) 2001-12-21 2004-12-30 Judson Richard S. Methods for obtaining and using haplotype data
US20050256649A1 (en) 2001-12-21 2005-11-17 Roses Allen D High throughput correlation of polymorphic forms with multiple phenotypes within clinical populations
US7383134B2 (en) 2002-01-15 2008-06-03 Piper James R Method and/or system for analyzing biological samples using a computer system
EP1490822A2 (en) 2002-02-04 2004-12-29 Ingenuity Systems Inc. Drug discovery methods
US7324928B2 (en) 2002-03-06 2008-01-29 Kitchen Scott G Method and system for determining phenotype from genotype
US8725418B2 (en) 2002-03-25 2014-05-13 Janssen Pharmaceutica, N.V. Data mining of SNP databases for the selection of intragenic SNPs
US7135286B2 (en) 2002-03-26 2006-11-14 Perlegen Sciences, Inc. Pharmaceutical and diagnostic business systems and methods
FI116468B (fi) 2002-04-04 2005-11-30 Licentia Oy Geenikartoitusmenetelmä genotyyppi- ja fenotyyppidatasta sekä muistiväline ja tietokonejärjestelmä menetelmän suorittamiseksi
US20040175700A1 (en) 2002-05-15 2004-09-09 Elixir Pharmaceuticals, Inc. Method for cohort selection
US20040115701A1 (en) 2002-08-30 2004-06-17 Comings David E Method for risk assessment for polygenic disorders
US20040219567A1 (en) 2002-11-05 2004-11-04 Andrea Califano Methods for global pattern discovery of genetic association in mapping genetic traits
US20090012928A1 (en) 2002-11-06 2009-01-08 Lussier Yves A System And Method For Generating An Amalgamated Database
US7822555B2 (en) 2002-11-11 2010-10-26 Affymetrix, Inc. Methods for identifying DNA copy number changes
US20040161779A1 (en) 2002-11-12 2004-08-19 Affymetrix, Inc. Methods, compositions and computer software products for interrogating sequence variations in functional genomic regions
EP1613723B1 (en) 2002-11-27 2013-05-15 Sequenom, Inc. Fragmentation-based methods for sequence variation detection and discovery
US20040146870A1 (en) 2003-01-27 2004-07-29 Guochun Liao Systems and methods for predicting specific genetic loci that affect phenotypic traits
JP5348840B2 (ja) 2003-02-20 2013-11-20 メイヨ・ファウンデーション・フォー・メディカル・エデュケーション・アンド・リサーチ 薬物を選択する方法
US7584058B2 (en) 2003-02-27 2009-09-01 Methexis Genomics N.V. Genetic diagnosis using multiple sequence variant analysis
US20050019787A1 (en) 2003-04-03 2005-01-27 Perlegen Sciences, Inc., A Delaware Corporation Apparatus and methods for analyzing and characterizing nucleic acid sequences
EP1615993A4 (en) 2003-04-09 2012-01-04 Omicia Inc METHOD FOR SELECTION, RECORDING AND ANALYSIS OF GENETIC MARKERS USING APPLICATIONS FOR GENERALLY GENETIC PROFILES ON A WIDE BASE
US20040249677A1 (en) 2003-05-19 2004-12-09 Debarshi Datta Comprehensive searchable medical record system supporting healthcare delivery and experiment
WO2005020788A2 (en) 2003-08-01 2005-03-10 The General Hospital Corporation Cognition analysis
US20050086035A1 (en) 2003-09-02 2005-04-21 Pioneer Hi-Bred International, Inc. Computer systems and methods for genotype to phenotype mapping using molecular network models
US20050176031A1 (en) 2003-10-30 2005-08-11 Sears Christopher P. Kinship analysis program for missing persons and mass disaster
WO2005054810A2 (en) 2003-11-26 2005-06-16 The Ohio State University Research Foundation Polymorphic cd24 genotypes that are predictive of multiple sclerosis risk and progression
US20050209787A1 (en) 2003-12-12 2005-09-22 Waggener Thomas B Sequencing data analysis
US20050272057A1 (en) 2004-01-23 2005-12-08 Abrahamsen Mitchell S Small segments of DNA determine animal identity and source
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
EP1607898A3 (en) 2004-05-18 2006-03-29 Neal E. Solomon A bioinformatics system for functional proteomics modelling
US8335652B2 (en) 2004-06-23 2012-12-18 Yougene Corp. Self-improving identification method
US7622271B2 (en) 2004-07-26 2009-11-24 University Of Washington Identification of aging genes through large-scale analysis
US7937225B2 (en) 2004-09-03 2011-05-03 New York University Systems, methods and software arrangements for detection of genome copy number variation
WO2006068901A2 (en) 2004-12-21 2006-06-29 Laboratoires Serono S.A. Method and system for identifying gene-trait linkages
US7424371B2 (en) 2004-12-21 2008-09-09 Helicos Biosciences Corporation Nucleic acid analysis
RU2007124523A (ru) 2004-12-30 2009-02-10 ПРОВЕНТИС, Инк., (US) Способы, системы и компьютерные программные продукты для разработки и использования прогнозных моделей для прогнозирования большинства медицинских случаев, оценки стратегий вмешательства и для одновременной оценки нерегулярности биологических маркеров
US20060286566A1 (en) 2005-02-03 2006-12-21 Helicos Biosciences Corporation Detecting apparent mutations in nucleic acid sequences
WO2006099259A2 (en) 2005-03-11 2006-09-21 The Uab Research Foundation Novel missense mutations and single nucleotide polymorphisms in the rabphillin-3a-like gene and uses thereof
US7603325B2 (en) 2005-04-07 2009-10-13 Jacobson David L Concurrent two-phase completion genetic algorithm system and methods
US20060269476A1 (en) 2005-05-31 2006-11-30 Kuo Michael D Method for integrating large scale biological data with imaging
US8515679B2 (en) 2005-12-06 2013-08-20 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US20070027636A1 (en) 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
US7630947B2 (en) 2005-08-25 2009-12-08 Siemens Medical Solutions Usa, Inc. Medical ontologies for computer assisted clinical decision support
US20070122824A1 (en) 2005-09-09 2007-05-31 Tucker Mark R Method and Kit for Assessing a Patient's Genetic Information, Lifestyle and Environment Conditions, and Providing a Tailored Therapeutic Regime
JP2007102709A (ja) 2005-10-07 2007-04-19 Toshiba Corp 遺伝子診断用のマーカー選定プログラム、該プログラムを実行する装置及びシステム、並びに遺伝子診断システム
EP1958111A4 (en) 2005-11-29 2009-07-08 Childrens Hosp Medical Center OPTIMIZATION AND INDIVIDUALIZATION OF THE SELECTION AND DOSAGE OF MEDICAMENTS
AU2006320355A1 (en) 2005-12-01 2007-06-07 Bioarts & Research Corp. Online marketplace for animal genetics
US8554488B2 (en) 2005-12-14 2013-10-08 Cold Spring Harbor Laboratory Determining a probabilistic diagnosis of autism by analysis of genomic copy number variations
US9183349B2 (en) 2005-12-16 2015-11-10 Nextbio Sequence-centric scientific information management
US20090181380A1 (en) 2005-12-19 2009-07-16 Abdelmajid Belouchi Genemap of the human genes associated with crohn's disease
US20090125246A1 (en) 2006-01-11 2009-05-14 Neocodex S.L. Method and Apparatus for the Determination of Genetic Associations
US20070196850A1 (en) 2006-01-27 2007-08-23 University Of Washington Identification of aging genes through large-scale analysis
US8340950B2 (en) 2006-02-10 2012-12-25 Affymetrix, Inc. Direct to consumer genotype-based products and services
US7702468B2 (en) 2006-05-03 2010-04-20 Population Diagnostics, Inc. Evaluating genetic disorders
WO2007133506A2 (en) 2006-05-09 2007-11-22 University Of Louisville Research Foundation , Inc. Personalized medicine management software
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
US8579811B2 (en) 2006-09-19 2013-11-12 3M Innovative Properties Company Medical diagnosis derived from patient drug history data
EP2044431B1 (en) 2006-07-17 2019-04-24 H. Lee Moffitt Cancer Center & Research Institute, Inc. Computer systems and methods for selecting subjects for clinical trials
US8122073B2 (en) 2006-09-29 2012-02-21 The Invention Science Fund I Computational systems for biomedical data
US7809660B2 (en) 2006-10-03 2010-10-05 International Business Machines Corporation System and method to optimize control cohorts using clustering algorithms
US20090137402A1 (en) 2006-10-11 2009-05-28 San Ming Wang Ditag genome scanning technology
EP1918837A1 (en) 2006-10-31 2008-05-07 F. Hoffmann-La Roche AG Method for processing a chronological sequence of measurements of a time dependent parameter
US20080131887A1 (en) 2006-11-30 2008-06-05 Stephan Dietrich A Genetic Analysis Systems and Methods
WO2008070144A2 (en) 2006-12-06 2008-06-12 Duke University Imprinted genes and disease
ATE525484T1 (de) 2007-01-08 2011-10-15 Us Gov Health & Human Serv Slco1b3-genotyp
US8050870B2 (en) 2007-01-12 2011-11-01 Microsoft Corporation Identifying associations using graphical models
US8099298B2 (en) 2007-02-14 2012-01-17 Genelex, Inc Genetic data analysis and database tools
AU2008217662A1 (en) 2007-02-23 2008-08-28 Progenika Biopharma, S.A. Method and product for "in vitro" genotyping with application in anti-aging medicine
EP2126129A4 (en) 2007-03-02 2010-12-22 Univ Ohio State Res Found CELL TOD ASSOCIATED PROTEIN KINASE (DAPK1) AND ITS USE IN THE TREATMENT OF CHRONIC LYMPHOCYTE LYMPHIA
US20080228700A1 (en) 2007-03-16 2008-09-18 Expanse Networks, Inc. Attribute Combination Discovery
US8140270B2 (en) 2007-03-22 2012-03-20 National Center For Genome Resources Methods and systems for medical sequencing analysis
US9012143B2 (en) 2007-04-30 2015-04-21 The Ohio State University Research Foundation Polymorphisms in genes affecting ace-related disorders and uses thereof
US20080281819A1 (en) 2007-05-10 2008-11-13 The Research Foundation Of State University Of New York Non-random control data set generation for facilitating genomic data processing
CA2690671A1 (en) 2007-06-13 2008-12-18 Decode Genetics Ehf. Genetic variants on chr 15q24 as markers for use in diagnosis, prognosis and treatment of exfoliation syndrome and glaucoma
CN106886688B (zh) 2007-07-23 2020-07-10 香港中文大学 用于分析癌症相关的遗传变异的系统
US7979215B2 (en) 2007-07-30 2011-07-12 Agilent Technologies, Inc. Methods and systems for evaluating CGH candidate probe nucleic acid sequences
JP5425793B2 (ja) 2007-10-12 2014-02-26 ペイシェンツライクミー， インコーポレイテッド 患者のコミュニティのプロファイルに基づく病状および転帰の個人管理ならびに比較
EP2207894A2 (en) 2007-10-12 2010-07-21 Decode Genetics EHF Sequence variants for inferring human pigmentation patterns
US8510057B1 (en) 2007-10-15 2013-08-13 23Andme, Inc. Summarizing an aggregate contribution to a characteristic for an individual
US8589437B1 (en) 2007-10-15 2013-11-19 23Andme, Inc. De-identification and sharing of genetic data
JP5288355B2 (ja) 2007-10-31 2013-09-11 独立行政法人農業生物資源研究所 塩基配列決定プログラム、塩基配列決定装置および塩基配列決定方法
ES2381457T3 (es) 2007-12-28 2012-05-28 Pioneer Hi-Bred International Inc. Uso de una variación estructural para analizar diferencias genómicas para la predicción de heterosis
US20090198519A1 (en) 2008-01-31 2009-08-06 Mcnamar Richard Timothy System for gene testing and gene research while ensuring privacy
AU2009213689B2 (en) 2008-02-14 2014-11-20 Decode Genetics Ehf. Susceptibility variants for lung cancer
WO2009105591A2 (en) 2008-02-19 2009-08-27 The Regents Of The University Of California Methods and systems for genome-scale kinetic modeling
WO2009108918A2 (en) 2008-02-29 2009-09-03 John Boyce Methods and systems for social networking based on nucleic acid sequences
WO2009111581A1 (en) 2008-03-04 2009-09-11 Nextbio Categorization and filtering of scientific data
US20090307180A1 (en) 2008-03-19 2009-12-10 Brandon Colby Genetic analysis
US20090240441A1 (en) 2008-03-20 2009-09-24 Helicos Biosciences Corporation System and method for analysis and presentation of genomic data
US8731956B2 (en) 2008-03-21 2014-05-20 Signature Genomic Laboratories Web-based genetics analysis
WO2009146460A2 (en) 2008-05-30 2009-12-03 Ordway Research Institute, Inc. Methods for disease therapy
US8639446B1 (en) 2008-06-24 2014-01-28 Trigeminal Solutions, Inc. Technique for identifying association variables
NZ590832A (en) 2008-07-04 2013-01-25 Decode Genetics Ehf Genetic variants for schizophrenia risk assessment
US8951735B2 (en) 2008-07-07 2015-02-10 Decode Genetics Ehf. Genetic variants for breast cancer risk assessment
WO2010004589A2 (en) 2008-07-07 2010-01-14 Decode Genetics Ehf Genetic variants predictive of cancer risk in humans
CN102177252B (zh) 2008-08-12 2014-12-24 解码遗传学私营有限责任公司 用于甲状腺癌症的风险评估的遗传变型
EP2329037B1 (en) 2008-08-15 2015-01-28 Decode Genetics EHF Genetic variants predictive of cancer risk
WO2010024894A1 (en) 2008-08-26 2010-03-04 23Andme, Inc. Processing data from genotyping chips
US7917438B2 (en) 2008-09-10 2011-03-29 Expanse Networks, Inc. System for secure mobile healthcare selection
US20140200824A1 (en) 2008-09-19 2014-07-17 University Of Pittsburgh Of The Commonwealth System Of Higher Education K-partite graph based formalism for characterization of complex phenotypes in clinical data analyses and disease outcome prognosis
ES2620012T3 (es) 2008-09-20 2017-06-27 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
WO2010045252A1 (en) 2008-10-14 2010-04-22 Casework Genetics System and method for inferring str allelic genotype from snps
NZ572036A (en) 2008-10-15 2010-03-26 Nikola Kirilov Kasabov Data analysis and predictive systems and related methodologies
US8954337B2 (en) 2008-11-10 2015-02-10 Signature Genomic Interactive genome browser
CA2777638A1 (en) 2008-11-26 2010-06-03 Decode Genetics Ehf. Genetic variants useful for risk assessment of thyroid cancer
WO2010067381A1 (en) 2008-12-12 2010-06-17 Decode Genetics Ehf Genetic variants as markers for use in diagnosis, prognosis and treatment of eosinophilia, asthma, and myocardial infarction
EP3276526B8 (en) 2008-12-31 2025-01-15 23andMe, Inc. Finding relatives in a database
CA2757384A1 (en) 2009-04-03 2010-10-07 Decode Genetics Ehf. Determination of genetic risk of atrial fibrillation and stroke associated with rs7193343 and correlated markers
US20130035954A1 (en) 2009-05-07 2013-02-07 Pathway Genomics Genomics-based alerting systems
CA2759851A1 (en) 2009-05-08 2010-11-11 Decode Genetics Ehf. Genetic variants contributing to risk of prostate cancer
US8796182B2 (en) 2009-07-10 2014-08-05 Decode Genetics Ehf. Genetic markers associated with risk of diabetes mellitus
US20110202486A1 (en) 2009-07-21 2011-08-18 Glenn Fung Healthcare Information Technology System for Predicting Development of Cardiovascular Conditions
US8639639B2 (en) 2009-08-31 2014-01-28 Bhagwan Mahavir Medical Research Centre Predicting possible outcomes in multi-factored diseases
US8315957B2 (en) 2009-09-01 2012-11-20 Microsoft Corporation Predicting phenotypes using a probabilistic predictor
US20120215459A1 (en) 2009-09-04 2012-08-23 Marianne Stef High throughput detection of genomic copy number variations
WO2011050076A1 (en) 2009-10-20 2011-04-28 Genepeeks, Inc. Methods and systems for pre-conceptual prediction of progeny attributes
WO2011050341A1 (en) 2009-10-22 2011-04-28 National Center For Genome Resources Methods and systems for medical sequencing analysis
EP2494069B1 (en) 2009-10-30 2013-10-02 Roche Diagniostics GmbH Method for detecting balanced chromosomal aberrations in a genome
EP2328126A1 (en) 2009-11-27 2011-06-01 Technical University of Denmark Genome-wide association study identifying determinants of facial characteristics for facial image generation
US9798855B2 (en) 2010-01-07 2017-10-24 Affymetrix, Inc. Differential filtering of genetic data
US20140206552A1 (en) * 2010-05-18 2014-07-24 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
CN106951732B (zh) 2010-05-25 2020-03-10 加利福尼亚大学董事会 基于计算机的基因组序列分析系统
WO2011161700A1 (en) 2010-06-22 2011-12-29 Decode Genetics Ehf Genetic markers for risk management of vascular disease
US20120016594A1 (en) 2010-07-02 2012-01-19 Coriell Institute For Medical Research, Inc. Method for translating genetic information for use in pharmacogenomic molecular diagnostics and personalized medicine research
US20120046877A1 (en) 2010-07-06 2012-02-23 Life Technologies Corporation Systems and methods to detect copy number variation
CN103392182B (zh) 2010-08-02 2017-07-04 众有生物有限公司 用于发现遗传疾病中致病突变的系统和方法
JP5930266B2 (ja) 2010-08-26 2016-06-08 国立研究開発法人医薬基盤・健康・栄養研究所 遺伝子絞り込み装置、遺伝子絞り込み方法、及びコンピュータプログラム
US9189594B2 (en) 2010-08-31 2015-11-17 Annai Systems Inc. Method and systems for processing polymeric sequence data and related information
WO2012030967A1 (en) 2010-08-31 2012-03-08 Knome, Inc. Personal genome indexer
US20130332081A1 (en) 2010-09-09 2013-12-12 Omicia Inc Variant annotation, analysis and selection tool
US8725422B2 (en) 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
US20130316915A1 (en) 2010-10-13 2013-11-28 Aaron Halpern Methods for determining absolute genome-wide copy number variations of complex tumors
WO2012054681A2 (en) 2010-10-21 2012-04-26 Mayo Foundation For Medical Education And Research Methods for selecting medications for treating patients having attention-deficit hyperactivity disorder
US8700337B2 (en) 2010-10-25 2014-04-15 The Board Of Trustees Of The Leland Stanford Junior University Method and system for computing and integrating genetic and environmental health risks for a personal genome
US20120102054A1 (en) 2010-10-25 2012-04-26 Life Technologies Corporation Systems and Methods for Annotating Biomolecule Data
KR101325736B1 (ko) 2010-10-27 2013-11-08 삼성에스디에스 주식회사 바이오 마커 추출 장치 및 방법
US20120110013A1 (en) 2010-10-28 2012-05-03 Jorge Conde Flexibly Filterable Visual Overlay Of Individual Genome Sequence Data Onto Biological Relational Networks
WO2012059839A2 (en) 2010-11-01 2012-05-10 Koninklijke Philips Electronics N.V. In vitro diagnostic testing including automated brokering of royalty payments for proprietary tests
EP2640857A4 (en) 2010-11-18 2014-04-30 Decode Genetics Ehf GENETIC RISK FACTORS OF SINUS NODE SYNDROME
US9384321B2 (en) 2010-11-25 2016-07-05 Portable Genomics, Inc. Organization, visualization and utilization of genomic data on electronic devices
WO2012085948A1 (en) 2010-12-21 2012-06-28 Decode Genetics Ehf Genetic variants useful for risk assessment of thyroid cancer
JP6066924B2 (ja) 2010-12-29 2017-01-25 ダウ アグロサイエンシィズ エルエルシー Ｄｎａ配列のデータ解析法
US9534256B2 (en) 2011-01-06 2017-01-03 Wake Forest University Health Sciences Methods and compositions for correlating genetic markers with risk of aggressive prostate cancer
EP2663656B1 (en) 2011-01-13 2016-08-24 Decode Genetics EHF Genetic variants as markers for use in urinary bladder cancer risk assessment
JP6420543B2 (ja) 2011-01-19 2018-11-07 コーニンクレッカ フィリップス エヌ ヴェＫｏｎｉｎｋｌｉｊｋｅ Ｐｈｉｌｉｐｓ Ｎ．Ｖ． ゲノムデータ処理方法
WO2012100216A2 (en) 2011-01-20 2012-07-26 Knome, Inc. Methods and apparatus for assigning a meaningful numeric value to genomic variants, and searching and assessing same
WO2012104764A2 (en) 2011-02-04 2012-08-09 Koninklijke Philips Electronics N.V. Method for estimation of information flow in biological networks
JP6153874B2 (ja) * 2011-02-09 2017-06-28 ナテラ， インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
US20140044668A1 (en) 2011-02-15 2014-02-13 The Ohio State University Methods for Predicting Cardiovascular Risks and Responsiveness to Statin Therapy Using SNPs
US20120215463A1 (en) 2011-02-23 2012-08-23 The Mitre Corporation Rapid Genomic Sequence Homology Assessment Scheme Based on Combinatorial-Analytic Concepts
EP2681709A4 (en) 2011-03-04 2015-05-06 Kew Group Llc PERSONALIZED MEDICAL MANAGEMENT SYSTEM, NETWORKS AND ASSOCIATED METHODS
US20120236861A1 (en) 2011-03-09 2012-09-20 Annai Systems, Inc. Biological data networks and methods therefor
WO2012123972A1 (en) 2011-03-17 2012-09-20 Decode Genetics Ehf Genetic variants useful for risk assessment of thyroid cancer
US10127346B2 (en) 2011-04-13 2018-11-13 The Board Of Trustees Of The Leland Stanford Junior University Systems and methods for interpreting a human genome using a synthetic reference sequence
US8744982B2 (en) 2011-05-12 2014-06-03 University Of Utah Research Foundation Gene-specific prediction
AU2012255722B2 (en) 2011-05-17 2017-04-13 Commonwealth Scientific And Industrial Research Organisation Computer-implemented method and system for detecting interacting DNA loci
US20150169828A1 (en) 2011-05-19 2015-06-18 Donald Spector Method and system for collecting medical data
US9928338B2 (en) 2011-06-01 2018-03-27 The Board Of Trustees Of The Leland Stanford Junior University Method and system for phasing individual genomes in the context of clinical interpretation
EP2718862B1 (en) 2011-06-06 2018-10-31 Koninklijke Philips N.V. Method for assembly of nucleic acid sequence data
WO2012177774A2 (en) 2011-06-21 2012-12-27 Life Technologies Corporation Systems and methods for hybrid assembly of nucleic acid sequences
CA2791118C (en) * 2011-06-29 2019-05-07 Furnan Jiang Noninvasive detection of fetal genetic abnormality
CN104120181B (zh) * 2011-06-29 2017-06-09 深圳华大基因股份有限公司 对染色体测序结果进行gc校正的方法及装置
US8718950B2 (en) 2011-07-08 2014-05-06 The Medical College Of Wisconsin, Inc. Methods and apparatus for identification of disease associated mutations
EP2546674B1 (en) 2011-07-15 2014-12-31 Airbus DS GmbH Plarform relative navigation using range measurements
WO2013019987A1 (en) 2011-08-03 2013-02-07 Ingenuity Systems, Inc. Methods and systems for biological data analysis
US9898687B2 (en) 2011-08-03 2018-02-20 Trigeminal Solutions, Inc. Technique for identifying association variables
US20140248692A1 (en) 2011-08-11 2014-09-04 Life Technologies Corporation Systems and methods for nucleic acid-based identification
CN102952854B (zh) 2011-08-25 2015-01-14 深圳华大基因科技有限公司 单细胞分类和筛选方法及其装置
CN102952855B (zh) 2011-08-26 2015-05-20 深圳华大基因科技服务有限公司 遗传图谱构建方法和装置、单体型分析方法和装置
US8793245B2 (en) 2011-09-22 2014-07-29 Patrick Kwete Personalized medical treatment provision software
US20140310215A1 (en) 2011-09-26 2014-10-16 John Trakadis Method and system for genetic trait search based on the phenotype and the genome of a human subject
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2766838A2 (en) 2011-10-11 2014-08-20 Life Technologies Corporation Systems and methods for analysis and interpretation of nucleic acid sequence data
WO2013058907A1 (en) 2011-10-17 2013-04-25 Good Start Genetics, Inc. Analysis methods
CN104136628A (zh) 2011-10-28 2014-11-05 深圳华大基因医学有限公司 一种检测染色体微缺失和微重复的方法
US9773091B2 (en) 2011-10-31 2017-09-26 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US20140359422A1 (en) 2011-11-07 2014-12-04 Ingenuity Systems, Inc. Methods and Systems for Identification of Causal Genomic Variants
KR101922129B1 (ko) 2011-12-05 2018-11-26 삼성전자주식회사 차세대 시퀀싱을 이용하여 획득된 유전 정보를 압축 및 압축해제하는 방법 및 장치
EP2613278A2 (en) 2011-12-05 2013-07-10 Koninklijke Philips Electronics N.V. Retroactive extraction of clinically relevant information from patient sequencing data for clinical decision support
US9734283B2 (en) 2011-12-30 2017-08-15 Washington State University Genomic features associated with epigenetic control regions and transgenerational inheritance of epimutations
US20130184999A1 (en) 2012-01-05 2013-07-18 Yan Ding Systems and methods for cancer-specific drug targets and biomarkers discovery
CN103198236B (zh) 2012-01-06 2017-02-15 深圳华大基因股份有限公司 Cyp450基因型别数据库及基因分型、酶活性鉴定方法
US20130212125A1 (en) 2012-01-24 2013-08-15 The Board Of Regents Of The University Of Oklahoma Bioinformatics search tool system for retrieving and summarizing genotypic and phenotypic data for diagnosing patients
US20140046926A1 (en) 2012-02-06 2014-02-13 Mycare, Llc Systems and methods for searching genomic databases
US20160253770A1 (en) 2012-02-11 2016-09-01 Yougene Corp Systems and methods for genetic testing algorithms
US20130246033A1 (en) 2012-03-14 2013-09-19 Microsoft Corporation Predicting phenotypes of a living being in real-time
US20130245958A1 (en) 2012-03-15 2013-09-19 Siemens Aktiengesellschaft Accurate comparison and validation of single nucleotide variants
US9552458B2 (en) 2012-03-16 2017-01-24 The Research Institute At Nationwide Children's Hospital Comprehensive analysis pipeline for discovery of human genetic variation
US20130261984A1 (en) 2012-03-30 2013-10-03 Illumina, Inc. Methods and systems for determining fetal chromosomal abnormalities
US20130268290A1 (en) 2012-04-02 2013-10-10 David Jackson Systems and methods for disease knowledge modeling
HK1209161A1 (en) 2012-04-02 2016-03-24 博格有限责任公司 Interrogatory cell-based assays and uses thereof
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
KR101795124B1 (ko) 2012-04-05 2017-12-01 비지아이 다이어그노시스 씨오., 엘티디. 복제 수 변이를 검측하기 위한 방법 및 시스템
AU2013245272B2 (en) 2012-04-06 2018-04-05 The Chinese University Of Hong Kong Noninvasive prenatal diagnosis of fetal trisomy by allelic ratio analysis using targeted massively parallel sequencing
US8812422B2 (en) 2012-04-09 2014-08-19 Good Start Genetics, Inc. Variant database
WO2013166517A1 (en) * 2012-05-04 2013-11-07 Complete Genomics, Inc. Methods for determining absolute genome-wide copy number variations of complex tumors
KR101987477B1 (ko) 2012-05-07 2019-06-10 엘지전자 주식회사 바이오마커 발굴 방법
US8812243B2 (en) 2012-05-09 2014-08-19 International Business Machines Corporation Transmission and compression of genetic data
US20130345066A1 (en) 2012-05-09 2013-12-26 Life Technologies Corporation Systems and methods for identifying sequence variation
US8855938B2 (en) 2012-05-18 2014-10-07 International Business Machines Corporation Minimization of surprisal data through application of hierarchy of reference genomes
WO2013177581A2 (en) 2012-05-24 2013-11-28 University Of Washington Through Its Center For Commercialization Whole genome sequencing of a human fetus
US9201916B2 (en) 2012-06-13 2015-12-01 Infosys Limited Method, system, and computer-readable medium for providing a scalable bio-informatics sequence search on cloud
US9953137B2 (en) 2012-07-06 2018-04-24 Nant Holdings Ip, Llc Healthcare analysis stream management
US9092401B2 (en) 2012-10-31 2015-07-28 Counsyl, Inc. System and methods for detecting genetic variation
RU2015108003A (ru) 2012-08-07 2016-09-27 Конинклейке Филипс Н.В. Классификация популяции для набора генетических данных с помощью древовидной структуры пространственных данных
WO2014026152A2 (en) 2012-08-10 2014-02-13 Assurerx Health, Inc. Systems and methods for pharmacogenomic decision support in psychiatry
WO2014026096A1 (en) 2012-08-10 2014-02-13 The Broad Institute, Inc. Methods and apparatus for analyzing and quantifying dna alterations in cancer
US9449143B2 (en) 2012-08-28 2016-09-20 Inova Health System Ancestral-specific reference genomes and uses thereof
EP2891099A4 (en) 2012-08-28 2016-04-20 Broad Inst Inc DETECTION OF DATA SEQUENCING AND BENCHMARKING VARIANTS
US9165253B2 (en) 2012-08-31 2015-10-20 Real Time Genomics Limited Method of evaluating genomic sequences
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160004814A1 (en) 2012-09-05 2016-01-07 University Of Washington Through Its Center For Commercialization Methods and compositions related to regulation of nucleic acids
CA2883245A1 (en) 2012-09-06 2014-03-13 Ancestry.Com Dna, Llc Using haplotypes to infer ancestral origins for recently admixed individuals
US20140089009A1 (en) 2012-09-27 2014-03-27 Wobblebase, Inc. Method for Personal Genome Data Management
US20140088942A1 (en) 2012-09-27 2014-03-27 Ambry Genetics Molecular genetic diagnostic system
WO2014052909A2 (en) 2012-09-27 2014-04-03 The Children's Mercy Hospital System for genome analysis and genetic disease diagnosis
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
GB201217888D0 (en) 2012-10-05 2012-11-21 Univ Leuven Kath High-throughput genotyping by sequencing of single cell
US20140114584A1 (en) 2012-10-08 2014-04-24 Spiral Genetics Inc. Methods and systems for identifying, from read symbol sequences, variations with respect to a reference symbol sequence
KR101419753B1 (ko) 2012-10-16 2014-07-17 안형준 개인 단일 염기 다형성에 기반한 개인별 부작용 최소화 약물 검색 시스템 및 그 방법
US9916416B2 (en) 2012-10-18 2018-03-13 Virginia Tech Intellectual Properties, Inc. System and method for genotyping using informed error profiles
US10347361B2 (en) 2012-10-24 2019-07-09 Nantomics, Llc Genome explorer system to process and present nucleotide variations in genome sequence data
HUP1200622A2 (en) 2012-10-30 2014-05-28 Budapesti Mueszaki Es Gazdasagtudomanyi Egyetem Method and computer program product for genotype classification
US9977708B1 (en) 2012-11-08 2018-05-22 23Andme, Inc. Error correction in ancestry classification
US20140143188A1 (en) 2012-11-16 2014-05-22 Genformatic, Llc Method of machine learning, employing bayesian latent class inference: combining multiple genomic feature detection algorithms to produce an integrated genomic feature set with specificity, sensitivity and accuracy
TWI489305B (zh) * 2012-11-21 2015-06-21 Bgi Diagnosis Co Ltd 對胎兒遺傳異常的無創性檢測
EP2923293B1 (en) 2012-11-26 2021-05-26 Illumina, Inc. Efficient comparison of polynucleotide sequences
CN104838384B (zh) 2012-11-26 2018-01-26 皇家飞利浦有限公司 使用具有患者特异性的相关性评价的变体‑疾病关联性的诊断基因分析
US9218450B2 (en) 2012-11-29 2015-12-22 Roche Molecular Systems, Inc. Accurate and fast mapping of reads to genome
EP2929070A4 (en) 2012-12-05 2016-06-01 Genepeeks Inc SYSTEM AND METHOD FOR THE COMPUTER FORECASTING THE EXPRESSION OF SINGLE GENE PHENOTYPES
US9836577B2 (en) 2012-12-14 2017-12-05 Celmatix, Inc. Methods and devices for assessing risk of female infertility
WO2014099979A2 (en) 2012-12-17 2014-06-26 Virginia Tech Intellectual Properties, Inc. Methods and compositions for identifying global microsatellite instability and for characterizing informative microsatellite loci
US20150046191A1 (en) 2013-01-05 2015-02-12 Foundation Medicine, Inc. System and method for managing genomic information
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
US20150356243A1 (en) 2013-01-11 2015-12-10 Oslo Universitetssykehus Hf Systems and methods for identifying polymorphisms
US20140222349A1 (en) 2013-01-16 2014-08-07 Assurerx Health, Inc. System and Methods for Pharmacogenomic Classification
EP2994749B1 (en) 2013-01-17 2025-03-05 Illumina, Inc. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
EP4414990A3 (en) 2013-01-17 2024-11-06 Personalis, Inc. Methods and systems for genetic analysis
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20160153032A9 (en) 2013-01-25 2016-06-02 Signature Diagnostics Ag Method for predicting a manifestation of an outcome measure of a cancer patient
US11031097B2 (en) 2013-01-28 2021-06-08 Hasso-Plattner Institut fuer Softwaresystemtechnik GmbH System for genomic data processing with an in-memory database system and real-time analysis
US10381106B2 (en) 2013-01-28 2019-08-13 Hasso-Plattner-Institut Fuer Softwaresystemtechnik Gmbh Efficient genomic read alignment in an in-memory database
KR101770962B1 (ko) 2013-02-01 2017-08-24 에스케이텔레콤 주식회사 유전자 서열 기반 개인 마커에 관한 정보를 제공하는 방법 및 이를 이용한 장치
WO2014121128A1 (en) 2013-02-01 2014-08-07 Life Technologies Corporation Methods, systems, and computer readable media for exchanging genomic and/or patient information
US20140244556A1 (en) 2013-02-27 2014-08-28 Abdul Saleh Methods for and apparatus generating automated pharmaco genetics correlation
JP5985040B2 (ja) 2013-02-28 2016-09-06 株式会社日立ハイテクノロジーズ データ解析装置、及びその方法
WO2014134615A1 (en) 2013-03-01 2014-09-04 Actx, Inc. Cloud-like medical-information service
CN105074007A (zh) * 2013-03-12 2015-11-18 考希尔股份有限公司 用于产前遗传分析的系统和方法
ES2743751T3 (es) 2013-03-13 2020-02-20 Fdna Inc Sistemas, métodos y medios lectores por ordenador para identificar cuando un sujeto puede ser afectado por una condición médica
WO2014152950A1 (en) 2013-03-14 2014-09-25 Wake Forest University Health Sciences Methods and compositions for correlating genetic markers with risk of aggressive prostate cancer
US20140350954A1 (en) 2013-03-14 2014-11-27 Ontomics, Inc. System and Methods for Personalized Clinical Decision Support Tools
US9418203B2 (en) 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
WO2014145503A2 (en) 2013-03-15 2014-09-18 Lieber Institute For Brain Development Sequence alignment using divide and conquer maximum oligonucleotide mapping (dcmom), apparatus, system and method related thereto
US20140278133A1 (en) 2013-03-15 2014-09-18 Advanced Throughput, Inc. Systems and methods for disease associated human genomic variant analysis and reporting
US10385394B2 (en) * 2013-03-15 2019-08-20 The Translational Genomics Research Institute Processes of identifying and characterizing X-linked disorders
WO2014145234A2 (en) 2013-03-15 2014-09-18 Vigenetech, Inc. Systems and apparatus for integrated and comprehensive biomedical annotation of bioassay data
WO2014145280A1 (en) 2013-03-15 2014-09-18 Ancestry.Com Dna, Llc Family networks
US20140278461A1 (en) 2013-03-15 2014-09-18 Memorial Sloan-Kettering Cancer Center System and method for integrating a medical sequencing apparatus and laboratory system into a medical facility
US20140303901A1 (en) 2013-04-08 2014-10-09 Ilan Sadeh Method and system for predicting a disease
US10354745B2 (en) 2013-04-17 2019-07-16 Wong Andrew Ka Ching Aligning and clustering sequence patterns to reveal classificatory functionality of sequences
PL2998407T5 (pl) * 2013-05-15 2023-01-30 Bgi Genomics Co., Ltd. Sposób wykrywania nieprawidłowości strukturalnych chromosomów i urządzenie do tego sposobu
MX2015016046A (es) 2013-05-23 2016-07-26 Iphenotype Llc Metodos y sistemas para ayudar a personas, proveedores de productos y/o proveedores de servicios.
CN103336916B (zh) 2013-07-05 2016-04-06 中国科学院数学与系统科学研究院 一种测序序列映射方法及系统
EP3019865A4 (en) 2013-07-12 2017-04-05 Immuneering Corporation Systems, methods, and environment for automated review of genomic data to identify downregulated and/or upregulated gene expression indicative of a disease or condition
WO2015013191A1 (en) 2013-07-21 2015-01-29 Dana-Farber Cancer Institute, Inc. Methods, systems, apparatus and their optimization for effective clinical analysis and conveying results thereof
EP3025156A4 (en) 2013-07-25 2017-06-14 KBioBox Inc. Method and system for rapid searching of genomic data and uses thereof
US20150073724A1 (en) 2013-07-29 2015-03-12 Agilent Technologies, Inc Method for finding variants from targeted sequencing panels
EP3495504B1 (en) 2013-08-19 2020-10-07 Cipherome, Inc. Method and system for selecting drug on basis of individual protein damage information for preventing side effects of drug
EP3626866B1 (en) 2013-08-19 2021-03-24 Abbott Molecular Inc. Next-generation sequencing libraries
EP3036712A4 (en) 2013-08-20 2017-04-19 The Ohio State Innovation Foundation Methods for predicting prognosis
US9116866B2 (en) 2013-08-21 2015-08-25 Seven Bridges Genomics Inc. Methods and systems for detecting sequence variants
WO2015027085A1 (en) 2013-08-22 2015-02-26 Genomoncology, Llc Computer-based systems and methods for analyzing genomes based on discrete data structures corresponding to genetic variants therein
EP3039161B1 (en) 2013-08-30 2021-10-06 Personalis, Inc. Methods and systems for genomic analysis
US10395758B2 (en) 2013-08-30 2019-08-27 10X Genomics, Inc. Sequencing methods
US20150066381A1 (en) 2013-09-03 2015-03-05 Seven Bridges Genomics Inc. Genomic pipeline editor with tool localization
KR101493982B1 (ko) 2013-09-26 2015-02-23 대한민국 품종인식 코드화 시스템 및 이를 이용한 코드화 방법
EP2854059A3 (en) 2013-09-27 2015-07-29 Orbicule BVBA Method for storage and communication of personal genomic or medical information
GB2535066A (en) 2013-10-03 2016-08-10 Personalis Inc Methods for analyzing genotypes
KR102514024B1 (ko) 2013-10-04 2023-03-23 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
US20150105270A1 (en) 2013-10-10 2015-04-16 Severe Adverse Event (Sae) Consortium Biomarkers for increased risk of drug-induced liver injury from exome sequencing studies
US10832797B2 (en) 2013-10-18 2020-11-10 Seven Bridges Genomics Inc. Method and system for quantifying sequence alignment
US11049587B2 (en) 2013-10-18 2021-06-29 Seven Bridges Genomics Inc. Methods and systems for aligning sequences in the presence of repeating elements
CA2927102C (en) 2013-10-18 2022-08-30 Seven Bridges Genomics Inc. Methods and systems for genotyping genetic samples
EP3061020B1 (en) 2013-10-22 2024-04-24 Athena Diagnostics Inc. Pathogenicity scoring system for human clinical genetics
US9547749B2 (en) 2013-10-30 2017-01-17 St. Petersburg State University Visualization, sharing and analysis of large data sets
US20150154375A1 (en) 2013-11-27 2015-06-04 Companion Dx Reference Lab, Llc. Systems and methods for optimizing drug therapies
WO2015085147A1 (en) 2013-12-05 2015-06-11 The Broad Institute Inc. Polymorphic gene typing and somatic change detection using sequencing data
US20150193578A1 (en) 2014-01-07 2015-07-09 The Regents Of The University Of Michigan Systems and methods for genomic variant analysis
CN106068330B (zh) 2014-01-10 2020-12-29 七桥基因公司 将已知等位基因用于读数映射中的系统和方法
US20150254397A1 (en) 2014-01-11 2015-09-10 Cytognomix Inc Method of Validating mRNA Splciing Mutations in Complete Transcriptomes
EP3095054B1 (en) 2014-01-14 2022-08-31 Fabric Genomics, Inc. Methods and systems for genome analysis
US20160333411A1 (en) 2014-01-17 2016-11-17 Ruthie Harper Methods of weight analysis and uses thereof
US20160340722A1 (en) 2014-01-22 2016-11-24 Adam Platt Methods And Systems For Detecting Genetic Mutations
US9670530B2 (en) 2014-01-30 2017-06-06 Illumina, Inc. Haplotype resolved genome sequencing
US20150228041A1 (en) 2014-02-10 2015-08-13 Cure Forward Corp. Clinical trial recruitment platform driven by molecular profile
US20170061070A1 (en) 2014-02-13 2017-03-02 The Children's Mercy Hospital Method and process for whole genome sequencing for genetic disease diagnosis
CN110955371B (zh) 2014-02-13 2023-09-12 Illumina公司 综合式消费者基因组服务
GB201402996D0 (en) 2014-02-20 2014-04-09 Vela Operations Pte Ltd Variant analysis in high-throughput sequencing applications
CN106537400B (zh) 2014-02-26 2019-04-09 南托米克斯公司 安全的移动基因组浏览设备及用于其的方法
US20150248522A1 (en) 2014-02-28 2015-09-03 The Board of Trustees of the Leland Stanford Junior, University Method and System for Identification of Disease Causing Variants
WO2015127557A1 (en) 2014-02-28 2015-09-03 Centre For Addiction And Mental Health Compositions and methods for the treatment and prevention of antipsychotic medication-induced weight gain
US20150261913A1 (en) 2014-03-11 2015-09-17 The Board of Trustees of the Leland Stanford, Junior, University Method and System for Identifying Clinical Phenotypes in Whole Genome DNA Sequence Data
EP3120278A4 (en) 2014-03-20 2017-11-22 Ramot at Tel-Aviv University Ltd. Methods and systems for genome comparison
JPWO2015146852A1 (ja) 2014-03-24 2017-04-13 株式会社東芝 基準ゲノムデータを生成する方法、装置及びプログラム、差分ゲノムデータを生成する方法、装置及びプログラム、データを復元する方法、装置及びプログラム
EP3123170A4 (en) 2014-03-27 2018-08-08 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
JP6198659B2 (ja) 2014-04-03 2017-09-20 株式会社日立ハイテクノロジーズ 配列データ解析装置、ｄｎａ解析システムおよび配列データ解析方法
AU2015249846B2 (en) 2014-04-21 2021-07-22 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
WO2015166389A1 (en) 2014-05-02 2015-11-05 Koninklijke Philips N.V. Genomic informatics service
EP3140422A1 (en) 2014-05-03 2017-03-15 The Regents of The University of California Methods of identifying biomarkers associated with or causative of the progression of disease, in particular for use in prognosticating primary open angle glaucoma
WO2015171660A1 (en) 2014-05-05 2015-11-12 Board Of Regents, The University Of Texas System Variant annotation, analysis and selection tool
EP3143537B1 (en) 2014-05-12 2023-03-01 Roche Diagnostics GmbH Rare variant calls in ultra-deep sequencing
GB201408687D0 (en) 2014-05-16 2014-07-02 Univ Leuven Kath Method for predicting a phenotype from a genotype
CA2950731C (en) * 2014-05-30 2023-04-25 Sequenom, Inc. Chromosome representation determinations
US10318704B2 (en) * 2014-05-30 2019-06-11 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies
WO2015191562A1 (en) 2014-06-09 2015-12-17 Revon Systems, Llc Systems and methods for health tracking and management
US20170098053A1 (en) 2014-06-09 2017-04-06 Georgetown University Telegenetics
US20160098519A1 (en) 2014-06-11 2016-04-07 Jorge S. Zwir Systems and methods for scalable unsupervised multisource analysis
US20160314245A1 (en) 2014-06-17 2016-10-27 Genepeeks, Inc. Device, system and method for assessing risk of variant-specific gene dysfunction
US10046177B2 (en) 2014-06-18 2018-08-14 Elekta Ab System and method for automatic treatment planning
CN106536756A (zh) 2014-06-26 2017-03-22 10X基因组学有限公司 核酸序列的分析
US10665328B2 (en) 2014-06-30 2020-05-26 QIAGEN Redwood City, Inc. Methods and systems for interpretation and reporting of sequence-based genetic tests
KR20160010277A (ko) 2014-07-18 2016-01-27 에스케이텔레콤 주식회사 산모의 무세포 dna의 차세대 서열분석을 통한 태아의 단일유전자 유전변이의 예측방법
US10119167B2 (en) 2014-07-18 2018-11-06 Illumina, Inc. Non-invasive prenatal diagnosis of fetal genetic condition using cellular DNA and cell free DNA
US20160048608A1 (en) 2014-08-15 2016-02-18 Good Start Genetics, Inc. Systems and methods for genetic analysis
EP3189457A4 (en) 2014-09-05 2018-04-11 Nantomics, LLC Systems and methods for determination of provenance
US10699801B2 (en) 2014-09-12 2020-06-30 Illumina Cambridge Limited Detecting repeat expansions with short read sequencing data
BR112017007282A2 (pt) 2014-10-10 2018-06-19 Invitae Corp métodos, sistemas e processos de montagem de novo de leituras de sequenciamento
US20160140289A1 (en) 2014-10-16 2016-05-19 Counsyl, Inc. Variant caller
US10504611B2 (en) 2014-10-17 2019-12-10 Ancestry.Com Dna, Llc Ancestral human genomes
EP3210145A1 (en) 2014-10-21 2017-08-30 Barcelona Supercomputing Center-Centro Nacional de Supercomputación A computational method for the identification of variants in nucleic acid sequences
WO2016064995A1 (en) 2014-10-22 2016-04-28 Baylor College Of Medicine Method to identify genes under positive selection
WO2016083949A1 (en) 2014-11-25 2016-06-02 Koninklijke Philips N.V. Secure transmission of genomic data
SG11201705425SA (en) 2015-01-13 2017-08-30 10X Genomics Inc Systems and methods for visualizing structural variation and phasing information
NL2014199B1 (en) 2015-01-27 2017-01-06 Genalice B V A computer implemented method for generating a variant call file.
SG11201706087VA (en) 2015-01-30 2017-08-30 Rga Int Corp Devices and methods for diagnostics based on analysis of nucleic acids
EP3051450A1 (en) 2015-02-02 2016-08-03 Applied Maths Method of typing nucleic acid or amino acid sequences based on sequence analysis
JP2018513445A (ja) 2015-02-09 2018-05-24 １０エックス ゲノミクス，インコーポレイテッド 構造変異の特定及びバリアントコールデータを用いたフェージングのためのシステム及び方法
US20160239603A1 (en) 2015-02-18 2016-08-18 Michael James Brown Computer-implemented associations of nucleic and amino acid sequence polymorphisms with phenotypes.
WO2016139534A2 (en) 2015-03-02 2016-09-09 Strand Life Sciences Private Limited Apparatuses and methods for determining a patient's response to multiple cancer drugs
KR20190047108A (ko) 2015-03-03 2019-05-07 난토믹스, 엘엘씨 앙상블-기반 연구 추천 시스템 및 방법
CA2978442A1 (en) 2015-03-04 2016-09-09 Veracyte, Inc. Methods for assessing the risk of disease occurrence or recurrence using expression level and sequence variant information
WO2016141294A1 (en) 2015-03-05 2016-09-09 Seven Bridges Genomics Inc. Systems and methods for genomic pattern analysis
WO2016149261A1 (en) 2015-03-16 2016-09-22 Personal Genome Diagnostics, Inc. Systems and methods for analyzing nucleic acid
EP3329491A2 (en) 2015-03-23 2018-06-06 Edico Genome Corporation Method and system for genomic visualization
WO2016154254A1 (en) 2015-03-23 2016-09-29 Private Access, Inc. System, method and apparatus to enhance privacy and enable broad sharing of bioinformatic data
US20160281166A1 (en) 2015-03-23 2016-09-29 Parabase Genomics, Inc. Methods and systems for screening diseases in subjects
CN107849612B (zh) 2015-03-26 2023-04-14 奎斯特诊断投资股份有限公司 比对和变体测序分析管线
US20160300013A1 (en) 2015-04-10 2016-10-13 Agilent Technologies, Inc. METHOD FOR SIMULTANEOUS DETECTION OF GENOME-WIDE COPY NUMBER CHANGES, cnLOH, INDELS, AND GENE MUTATIONS
CA2983562A1 (en) 2015-04-29 2016-11-03 The University Of British Columbia Clinical support system and method
ES2969767T3 (es) 2015-05-01 2024-05-22 Guardant Health Inc Métodos de diagnóstico
CA2891830A1 (en) 2015-05-15 2016-11-15 Centre For Addiction And Mental Health Genetic markers for suicide risk and related methods
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US10229519B2 (en) 2015-05-22 2019-03-12 The University Of British Columbia Methods for the graphical representation of genomic sequence data
US10275567B2 (en) 2015-05-22 2019-04-30 Seven Bridges Genomics Inc. Systems and methods for haplotyping
US10185803B2 (en) 2015-06-15 2019-01-22 Deep Genomics Incorporated Systems and methods for classifying, prioritizing and interpreting genetic variants and therapies using a deep neural network
US11842802B2 (en) 2015-06-19 2023-12-12 Koninklijke Philips N.V. Efficient clinical trial matching
CA2985491A1 (en) 2015-06-22 2016-12-29 Counsyl, Inc. Methods of predicting pathogenicity of genetic sequence variants
NZ739644A (en) 2015-07-13 2018-02-23 Ancestry Com Dna Llc Local genetic ethnicity determination system
WO2017009372A2 (en) 2015-07-13 2017-01-19 Cartagenia Nv System and methodology for the analysis of genomic data obtained from a subject
WO2017017611A1 (en) 2015-07-29 2017-02-02 Koninklijke Philips N.V. Systems and methods for prioritizing variants of unknown significance
DK3332034T3 (da) 2015-08-06 2024-10-28 Arc Bio Llc Systemer og fremgangsmåder til genomisk analyse
WO2017042831A2 (en) 2015-09-07 2017-03-16 Isense Solution Private Limited A system and method of measuring productivity and longevity of human beings based on analysis of their genes in a biological and functional context
US10963821B2 (en) 2015-09-10 2021-03-30 Roche Molecular Systems, Inc. Informatics platform for integrated clinical care
CN108292299A (zh) 2015-09-18 2018-07-17 法布里克基因组学公司 从基因组变体预测疾病负担
GB2557818A (en) 2015-09-25 2018-06-27 Veracyte Inc Methods and compositions that utilize transciptome sequencing data in machine learning-based classification
US20170091382A1 (en) 2015-09-29 2017-03-30 Yotta Biomed, Llc. System and method for automating data generation and data management for a next generation sequencer
GB2543273A (en) 2015-10-12 2017-04-19 Leica Microsystems Cambridge Ltd Obtaining biological information and storing and searching biological information in a database
US20170116379A1 (en) 2015-10-26 2017-04-27 Aetna Inc. Systems and methods for dynamically generated genomic decision support for individualized medical treatment
US20170132362A1 (en) 2015-11-09 2017-05-11 Washington State University Novel machine learning approach for the identification of genomic features associated with epigenetic control regions and transgenerational inheritance of epimutations
CN110149807A (zh) 2015-11-10 2019-08-20 细胞结构公司 用于可视化合成基因组、微生物组和代谢组数据的平台
KR20180124840A (ko) 2015-12-12 2018-11-21 싸이퍼롬, 인코퍼레이티드 컴퓨터로-구현된 집단에 대한 약물 안전성의 평가
KR101693504B1 (ko) 2015-12-28 2017-01-17 (주)신테카바이오 개인 전장 유전체의 유전변이정보를 이용한 질병원인 발굴 시스템
US20170199960A1 (en) 2016-01-07 2017-07-13 Seven Bridges Genomics Inc. Systems and methods for adaptive local alignment for graph genomes
WO2017120556A1 (en) 2016-01-07 2017-07-13 The Children's Mercy Hospital A system for determining diplotypes
US20170213127A1 (en) 2016-01-24 2017-07-27 Matthew Charles Duncan Method and System for Discovering Ancestors using Genomic and Genealogic Data
US10460829B2 (en) 2016-01-26 2019-10-29 Seven Bridges Genomics Inc. Systems and methods for encoding genetic variation for a population
US12071669B2 (en) 2016-02-12 2024-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
WO2017172958A1 (en) 2016-03-29 2017-10-05 Regeneron Pharmaceuticals, Inc. Genetic variant-phenotype analysis system and methods of use

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