SG11201806812SA - Methods and systems for detection of abnormal karyotypes - Google Patents

Methods and systems for detection of abnormal karyotypes

Info

Publication number
SG11201806812SA
SG11201806812SA SG11201806812SA SG11201806812SA SG11201806812SA SG 11201806812S A SG11201806812S A SG 11201806812SA SG 11201806812S A SG11201806812S A SG 11201806812SA SG 11201806812S A SG11201806812S A SG 11201806812SA SG 11201806812S A SG11201806812S A SG 11201806812SA
Authority
SG
Singapore
Prior art keywords
international
tarrytown
systems
methods
read coverage
Prior art date
Application number
SG11201806812SA
Other languages
English (en)
Inventor
Evan Maxwell
Lukas Habegger
Jeffrey Reid
Original Assignee
Regeneron Pharma
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Regeneron Pharma filed Critical Regeneron Pharma
Publication of SG11201806812SA publication Critical patent/SG11201806812SA/en

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Classifications

    • 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
    • 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

Landscapes

  • 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)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Data Mining & Analysis (AREA)
  • Organic Chemistry (AREA)
  • Public Health (AREA)
  • Evolutionary Computation (AREA)
  • Epidemiology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Software Systems (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Cell Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
SG11201806812SA 2016-02-12 2017-02-13 Methods and systems for detection of abnormal karyotypes SG11201806812SA (en)

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
SG11201806812SA true SG11201806812SA (en) 2018-09-27

Family

ID=58185625

Family Applications (1)

Application Number Title Priority Date Filing Date
SG11201806812SA SG11201806812SA (en) 2016-02-12 2017-02-13 Methods and systems for detection of abnormal karyotypes

Country Status (13)

Country Link
US (1) US20170233806A1 (ja)
EP (1) EP3414691A1 (ja)
JP (2) JP6765433B2 (ja)
KR (2) KR102465122B1 (ja)
CN (2) CN109074426B (ja)
AU (2) AU2017218149B2 (ja)
CA (1) CA3014292A1 (ja)
HK (1) HK1259478A1 (ja)
IL (2) IL261216B (ja)
MX (1) MX2018009823A (ja)
NZ (1) NZ745249A (ja)
SG (1) SG11201806812SA (ja)
WO (1) WO2017139801A1 (ja)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US11608533B1 (en) * 2017-08-21 2023-03-21 The General Hospital Corporation Compositions and methods for classifying tumors with microsatellite instability
SG11202110655UA (en) * 2019-03-28 2021-10-28 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
CN112599189A (zh) * 2020-12-29 2021-04-02 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 (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US10017812B2 (en) * 2010-05-18 2018-07-10 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20140206552A1 (en) * 2010-05-18 2014-07-24 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
WO2014165267A2 (en) * 2013-03-12 2014-10-09 Counsyl, Inc. Systems and methods for prenatal genetic analysis
US10385394B2 (en) * 2013-03-15 2019-08-20 The Translational Genomics Research Institute Processes of identifying and characterizing X-linked disorders
EP3149640B1 (en) * 2014-05-30 2019-09-04 Sequenom, Inc. Chromosome representation determinations
AU2015266665C1 (en) * 2014-05-30 2021-12-23 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
DK3656875T3 (da) * 2014-07-18 2021-12-13 Illumina Inc Ikke-invasiv prænatal diagnostik

Also Published As

Publication number Publication date
KR102341129B1 (ko) 2021-12-21
EP3414691A1 (en) 2018-12-19
IL261216B (en) 2021-12-01
CN109074426A (zh) 2018-12-21
AU2017218149B2 (en) 2020-09-03
AU2017218149A1 (en) 2018-09-06
CN115273970A (zh) 2022-11-01
JP2019512122A (ja) 2019-05-09
JP7144493B2 (ja) 2022-09-29
US20170233806A1 (en) 2017-08-17
AU2020244451B2 (en) 2022-04-07
WO2017139801A1 (en) 2017-08-17
CA3014292A1 (en) 2017-08-17
NZ745249A (en) 2021-07-30
KR20180116309A (ko) 2018-10-24
JP2021019586A (ja) 2021-02-18
KR102465122B1 (ko) 2022-11-09
JP6765433B2 (ja) 2020-10-07
KR20210154877A (ko) 2021-12-21
IL287595A (en) 2021-12-01
AU2020244451A1 (en) 2020-10-29
MX2018009823A (es) 2019-02-20
IL261216A (en) 2018-10-31
CN109074426B (zh) 2022-07-26
HK1259478A1 (zh) 2019-11-29

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