MX2020002664A - Sistemas y metodos para aprovechar el parentesco en analisis de datos genomicos. - Google Patents

Sistemas y metodos para aprovechar el parentesco en analisis de datos genomicos.

Info

Publication number
MX2020002664A
MX2020002664A MX2020002664A MX2020002664A MX2020002664A MX 2020002664 A MX2020002664 A MX 2020002664A MX 2020002664 A MX2020002664 A MX 2020002664A MX 2020002664 A MX2020002664 A MX 2020002664A MX 2020002664 A MX2020002664 A MX 2020002664A
Authority
MX
Mexico
Prior art keywords
methods
relatedness
leveraging
systems
data analysis
Prior art date
Application number
MX2020002664A
Other languages
English (en)
Inventor
Jeffrey Reid
Lukas Habegger
Jeffrey Staples
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 MX2020002664A publication Critical patent/MX2020002664A/es

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Classifications

    • 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
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F16/00—Information retrieval; Database structures therefor; File system structures therefor
    • G06F16/20—Information retrieval; Database structures therefor; File system structures therefor of structured data, e.g. relational data
    • G06F16/28—Databases characterised by their database models, e.g. relational or object models
    • G06F16/284—Relational databases
    • G06F16/288—Entity relationship models
    • 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
    • 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
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/60—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for patient-specific data, e.g. for electronic patient records
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/50—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for simulation or modelling of medical disorders
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H70/00—ICT specially adapted for the handling or processing of medical references
    • G16H70/60—ICT specially adapted for the handling or processing of medical references relating to pathologies

Landscapes

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

Abstract

Se proporcionan métodos, métodos implementados por computadora no transitorios y sistemas para identificar mutaciones heterocigóticas compuestas (CHM) y mutaciones de novo (DNM) en poblaciones. También se proporcionan métodos para inferir variantes genéticas en una población al aprovechar el parentesco de la población. Se proporciona además un modelo de predicción de parentesco en una población humana.
MX2020002664A 2017-09-07 2018-09-07 Sistemas y metodos para aprovechar el parentesco en analisis de datos genomicos. MX2020002664A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201762555597P 2017-09-07 2017-09-07
PCT/US2018/049967 WO2019051238A1 (en) 2017-09-07 2018-09-07 SYSTEMS AND METHODS OF OPERATING PARENTAL IN GENOMIC DATA ANALYSIS

Publications (1)

Publication Number Publication Date
MX2020002664A true MX2020002664A (es) 2020-09-25

Family

ID=63684599

Family Applications (2)

Application Number Title Priority Date Filing Date
MX2020002664A MX2020002664A (es) 2017-09-07 2018-09-07 Sistemas y metodos para aprovechar el parentesco en analisis de datos genomicos.
MX2020002665A MX2020002665A (es) 2017-09-07 2018-09-07 Sistema y metodo para predecir parentesco en una poblacion humana.

Family Applications After (1)

Application Number Title Priority Date Filing Date
MX2020002665A MX2020002665A (es) 2017-09-07 2018-09-07 Sistema y metodo para predecir parentesco en una poblacion humana.

Country Status (11)

Country Link
US (3) US11605444B2 (es)
EP (2) EP3679576A1 (es)
JP (3) JP7277438B2 (es)
KR (3) KR20200050992A (es)
CN (3) CN117746978A (es)
AU (3) AU2018327326A1 (es)
CA (2) CA3075182A1 (es)
IL (2) IL272927A (es)
MX (2) MX2020002664A (es)
SG (2) SG11202001747XA (es)
WO (2) WO2019051233A1 (es)

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CN110060737B (zh) * 2019-04-30 2023-04-18 上海诚明融鑫科技有限公司 一种基于最大频率虚拟个体的str快速比对方法及系统
CN110974203B (zh) * 2019-12-10 2020-12-04 电子科技大学 一种基于等值排列网络的心率非平衡性分析方法
CN111883207B (zh) * 2020-07-31 2022-08-16 武汉蓝沙医学检验实验室有限公司 一种生物学亲缘关系的鉴定方法
WO2022087839A1 (zh) * 2020-10-27 2022-05-05 深圳华大基因股份有限公司 基于无创产前基因检测数据的亲缘关系判定方法和装置
MX2023005748A (es) 2020-11-19 2023-05-26 Regeneron Pharma Genotipado mediante secuenciacion.
CN112863601B (zh) * 2021-01-15 2023-03-10 广州微远基因科技有限公司 病原微生物耐药基因归属模型及其建立方法和应用
CN113380328B (zh) * 2021-04-23 2023-06-20 中国人民大学 一种基于mRNA碱基的生物亲缘识别方法和系统
WO2022236221A1 (en) * 2021-05-05 2022-11-10 The Board Of Trustees Of The Leland Stanford Junior University Methods and systems for analyzing nucleic acid molecules
CN115101130B (zh) * 2022-06-30 2024-06-14 山东大学 一种基于网络对抗学习的单细胞数据插补方法及系统

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Also Published As

Publication number Publication date
CN117746978A (zh) 2024-03-22
WO2019051238A1 (en) 2019-03-14
IL272927A (en) 2020-04-30
CN111279420B (zh) 2024-01-16
KR20200065000A (ko) 2020-06-08
US20220336045A1 (en) 2022-10-20
KR20200050992A (ko) 2020-05-12
MX2020002665A (es) 2020-10-05
KR102648634B1 (ko) 2024-03-19
AU2023282218A1 (en) 2024-01-04
EP3679576A1 (en) 2020-07-15
EP3679575A1 (en) 2020-07-15
JP2023103325A (ja) 2023-07-26
US20190205502A1 (en) 2019-07-04
KR20240038142A (ko) 2024-03-22
CA3075182A1 (en) 2019-03-14
AU2018327331A1 (en) 2020-03-12
CA3075266A1 (en) 2019-03-14
US20190074092A1 (en) 2019-03-07
JP2020533679A (ja) 2020-11-19
SG11202001715YA (en) 2020-03-30
JP7277438B2 (ja) 2023-05-19
IL272963A (en) 2020-04-30
WO2019051233A1 (en) 2019-03-14
SG11202001747XA (en) 2020-03-30
CN111247599A (zh) 2020-06-05
JP2020532989A (ja) 2020-11-19
AU2018327326A1 (en) 2020-03-19
CN111279420A (zh) 2020-06-12
US11605444B2 (en) 2023-03-14

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