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 OR CALCULATING; 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)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (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)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Evolutionary Computation (AREA)
  • Software Systems (AREA)
  • Physiology (AREA)
  • Biomedical Technology (AREA)
  • Pathology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Peptides Or Proteins (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 (3)

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.
MX2020002664A MX2020002664A (es) 2017-09-07 2018-09-07 Sistemas y metodos para aprovechar el parentesco en analisis de datos genomicos.
MX2025006753A MX2025006753A (es) 2017-09-07 2020-03-09 Sistemas y metodos para aprovechar el parentesco en analisis de datos genomicos

Family Applications Before (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.

Family Applications After (1)

Application Number Title Priority Date Filing Date
MX2025006753A MX2025006753A (es) 2017-09-07 2020-03-09 Sistemas y metodos para aprovechar el parentesco en analisis de datos genomicos

Country Status (11)

Country Link
US (3) US11605444B2 (es)
EP (2) EP3679576A1 (es)
JP (3) JP7277438B2 (es)
KR (3) KR102648634B1 (es)
CN (3) CN111279420B (es)
AU (4) AU2018327326A1 (es)
CA (2) CA3075182A1 (es)
IL (3) IL316271A (es)
MX (3) MX2020002665A (es)
SG (2) SG11202001747XA (es)
WO (2) WO2019051233A1 (es)

Families Citing this family (18)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2964780C (en) * 2014-10-14 2023-03-21 Ancestry.Com Dna, Llc Reducing error in predicted genetic relationships
EP3847652A1 (en) 2018-09-07 2021-07-14 Regeneron Pharmaceuticals, Inc. Methods and systems for pedigree enrichment and family-based analyses within pedigrees
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
CN116209777B (zh) * 2020-10-27 2025-03-04 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
EP4238096A4 (en) * 2020-10-30 2024-10-16 Myome, Inc. Use of non-error-propagating phasing techniques and combination of allelic balance to improve cnv detection
WO2022109267A2 (en) 2020-11-19 2022-05-27 Regeneron Pharmaceuticals, Inc. Genotyping by sequencing
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
GB2625469B (en) * 2021-05-05 2025-05-07 Univ Leland Stanford Junior 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
US12461970B2 (en) 2022-08-19 2025-11-04 Ancestry.Com Dna, Llc Catalog-based data inheritance determination
US20240385178A1 (en) * 2023-05-19 2024-11-21 Microsoft Technology Licensing, Llc Trained neuronal cell cultures for drug testing
WO2025072084A1 (en) * 2023-09-25 2025-04-03 Foundation Medicine, Inc. Updating records based on consensus annotations of genetic variants
WO2025090739A1 (en) * 2023-10-27 2025-05-01 Grail, Inc. Systems and methods for assessing similarity between samples using genotype signatures
KR20250158337A (ko) * 2024-04-30 2025-11-06 한양대학교 산학협력단 부모 정보가 누락된 불완전한 트리오에서 드노보 돌연변이 탐지 방법
CN120673842A (zh) * 2025-05-08 2025-09-19 内蒙古农业大学 一种绒山羊绒厚性状的基因组选择育种的方法

Family Cites Families (26)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1288835A1 (en) * 2001-08-31 2003-03-05 Hitachi, Ltd. A method for defining gene hunting studies
EP1938203B1 (en) * 2005-02-26 2019-04-24 Unium Inc. Naming system layer
US20090177496A1 (en) * 2005-09-28 2009-07-09 Tuck Edward F Relationship prediction system
US20080055049A1 (en) * 2006-07-28 2008-03-06 Weill Lawrence R Searching methods
CA2630070A1 (en) * 2005-11-17 2007-05-31 Motif Biosciences, Inc. Systems and methods for the biometric analysis of index founder populations
US20080163824A1 (en) * 2006-09-01 2008-07-10 Innovative Dairy Products Pty Ltd, An Australian Company, Acn 098 382 784 Whole genome based genetic evaluation and selection process
JP4778876B2 (ja) * 2006-11-02 2011-09-21 株式会社エー・アンド・デイ エンジン計測装置
US20130080365A1 (en) * 2011-04-13 2013-03-28 The Board Of Trustees Of The Leland Stanford Junior University Phased Whole Genome Genetic Risk In A Family Quartet
DK2773954T3 (en) 2011-10-31 2018-07-23 Scripps Research Inst SYSTEMS AND PROCEDURES FOR GENOMIC ANNOTATION AND INTERPRETATION OF DISTRIBUTED VARIETIES
US20130218474A1 (en) * 2012-01-26 2013-08-22 Nodality, Inc. Benchmarks for Normal Cell Identification
US9177098B2 (en) * 2012-10-17 2015-11-03 Celmatix Inc. Systems and methods for determining the probability of a pregnancy at a selected point in time
US20140222349A1 (en) * 2013-01-16 2014-08-07 Assurerx Health, Inc. System and Methods for Pharmacogenomic Classification
US11107551B2 (en) * 2013-06-14 2021-08-31 Keygene N.V. Directed strategies for improving phenotypic traits
ES3037160T3 (en) * 2013-06-21 2025-09-29 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
US20150088541A1 (en) * 2013-09-26 2015-03-26 Univfy Inc. System and method of using personalized outcome probabilities to support the consumer in comparing costs and efficacy of medical treatments and matching medical provider with consumer
JP6399511B2 (ja) * 2013-09-30 2018-10-03 学校法人近畿大学 家系図作成支援装置及びコンピュータプログラム
CN105593683B (zh) * 2013-10-01 2018-11-30 考利达基因组股份有限公司 鉴定基因组中的变异的定相和连接方法
US20150112706A1 (en) * 2013-10-17 2015-04-23 Ovuline, Inc. System and Methods for Personal health Analytics Technical Field
KR20160062763A (ko) * 2013-10-18 2016-06-02 세븐 브릿지스 지노믹스 인크. 유전자 샘플을 유전자형 결정하기 위한 방법 및 시스템
KR20160113222A (ko) * 2014-01-27 2016-09-28 셀매틱스, 인크. 유전자 영역이 불임과 연관되는지 여부를 평가하는 방법
US9670530B2 (en) * 2014-01-30 2017-06-06 Illumina, Inc. Haplotype resolved genome sequencing
US9779460B2 (en) * 2014-02-18 2017-10-03 Marineh Tchakerian Systems, methods and non-transitory computer readable storage media for tracking and evaluating predictions regarding relationships
US20160042282A1 (en) * 2014-08-11 2016-02-11 Rashied Baradaran Amini Relationship evaluator
WO2016049878A1 (zh) * 2014-09-30 2016-04-07 深圳华大基因科技有限公司 一种基于snp分型的亲子鉴定方法及应用
CA2967013C (en) * 2014-11-06 2023-09-05 Ancestryhealth.Com, Llc Predicting health outcomes
CN106169034B (zh) * 2016-05-26 2019-03-26 中国农业科学院作物科学研究所 基因组信息辅助育种方法i-基于snp聚类信息和pav变异信息的育种亲本选择

Also Published As

Publication number Publication date
IL272927B1 (en) 2024-11-01
JP2023103325A (ja) 2023-07-26
SG11202001715YA (en) 2020-03-30
IL316271A (en) 2024-12-01
CN111279420A (zh) 2020-06-12
CN111279420B (zh) 2024-01-16
EP3679575A1 (en) 2020-07-15
KR102805807B1 (ko) 2025-05-12
US20190074092A1 (en) 2019-03-07
KR20200050992A (ko) 2020-05-12
SG11202001747XA (en) 2020-03-30
CN111247599A (zh) 2020-06-05
KR20240038142A (ko) 2024-03-22
AU2025205597A1 (en) 2025-08-07
IL272927A (en) 2020-04-30
CN117746978A (zh) 2024-03-22
IL272927B2 (en) 2025-03-01
AU2018327331A1 (en) 2020-03-12
CA3075182A1 (en) 2019-03-14
KR20200065000A (ko) 2020-06-08
AU2023282218A1 (en) 2024-01-04
US11605444B2 (en) 2023-03-14
WO2019051238A1 (en) 2019-03-14
IL272963A (en) 2020-04-30
AU2023282218B2 (en) 2025-04-24
JP2020532989A (ja) 2020-11-19
WO2019051233A1 (en) 2019-03-14
KR102648634B1 (ko) 2024-03-19
EP3679576A1 (en) 2020-07-15
MX2020002665A (es) 2020-10-05
US20220336045A1 (en) 2022-10-20
JP2020533679A (ja) 2020-11-19
AU2018327326A1 (en) 2020-03-19
US20190205502A1 (en) 2019-07-04
JP7277438B2 (ja) 2023-05-19
MX2025006753A (es) 2025-07-01
JP7608513B2 (ja) 2025-01-06
CA3075266A1 (en) 2019-03-14

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