SG11202001715YA - Systems and methods for leveraging relatedness in genomic data analysis - Google Patents

Systems and methods for leveraging relatedness in genomic data analysis

Info

Publication number
SG11202001715YA
SG11202001715YA SG11202001715YA SG11202001715YA SG11202001715YA SG 11202001715Y A SG11202001715Y A SG 11202001715YA SG 11202001715Y A SG11202001715Y A SG 11202001715YA SG 11202001715Y A SG11202001715Y A SG 11202001715YA SG 11202001715Y A SG11202001715Y A SG 11202001715YA
Authority
SG
Singapore
Prior art keywords
relatedness
leveraging
systems
methods
data analysis
Prior art date
Application number
SG11202001715YA
Inventor
Jeffrey Staples
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 SG11202001715YA publication Critical patent/SG11202001715YA/en

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    • 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
    • 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
    • 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
    • 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

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  • 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)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Software Systems (AREA)
  • Evolutionary Computation (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)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Peptides Or Proteins (AREA)
SG11202001715YA 2017-09-07 2018-09-07 Systems and methods for leveraging relatedness in genomic data analysis SG11202001715YA (en)

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 for leveraging relatedness in genomic data analysis

Publications (1)

Publication Number Publication Date
SG11202001715YA true SG11202001715YA (en) 2020-03-30

Family

ID=63684599

Family Applications (2)

Application Number Title Priority Date Filing Date
SG11202001715YA SG11202001715YA (en) 2017-09-07 2018-09-07 Systems and methods for leveraging relatedness in genomic data analysis
SG11202001747XA SG11202001747XA (en) 2017-09-07 2018-09-07 System and method for predicting relatedness in a human population

Family Applications After (1)

Application Number Title Priority Date Filing Date
SG11202001747XA SG11202001747XA (en) 2017-09-07 2018-09-07 System and method for predicting relatedness in a human population

Country Status (11)

Country Link
US (3) US20190074092A1 (en)
EP (2) EP3679575A1 (en)
JP (3) JP7277438B2 (en)
KR (3) KR20240038142A (en)
CN (3) CN111247599A (en)
AU (3) AU2018327331A1 (en)
CA (2) CA3075182A1 (en)
IL (2) IL272927A (en)
MX (2) MX2020002665A (en)
SG (2) SG11202001715YA (en)
WO (2) WO2019051233A1 (en)

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KR20210055072A (en) 2018-09-07 2021-05-14 리제너론 파아마슈티컬스, 인크. Methods and systems for lineage enrichment and family-based analysis within lineage
CN110060737B (en) * 2019-04-30 2023-04-18 上海诚明融鑫科技有限公司 STR (short tandem repeat) quick comparison method and system based on maximum frequency virtual individuals
CN110974203B (en) * 2019-12-10 2020-12-04 电子科技大学 Heart rate imbalance analysis method based on equivalent arrangement network
CN111883207B (en) * 2020-07-31 2022-08-16 武汉蓝沙医学检验实验室有限公司 Identification method of biological genetic relationship
CN116209777A (en) * 2020-10-27 2023-06-02 深圳华大基因股份有限公司 Genetic relationship judging method and device based on noninvasive prenatal gene detection data
JP2023548113A (en) * 2020-10-30 2023-11-15 マイオーム，インコーポレイテッド Using a combination of non-error propagation phase determination techniques and allelic balance to improve CNV detection
CA3193770A1 (en) 2020-11-19 2022-05-27 Regeneron Pharmaceuticals, Inc. Genotyping by sequencing
CN112863601B (en) * 2021-01-15 2023-03-10 广州微远基因科技有限公司 Pathogenic microorganism drug-resistant gene attribution model and establishing method and application thereof
CN113380328B (en) * 2021-04-23 2023-06-20 中国人民大学 mRNA base-based biological genetic identification method and system
GB2625469A (en) * 2021-05-05 2024-06-19 Univ Leland Stanford Junior Methods and systems for analyzing nucleic acid molecules
CN115101130B (en) * 2022-06-30 2024-06-14 山东大学 Single-cell data interpolation method and system based on network countermeasure learning

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Also Published As

Publication number Publication date
EP3679575A1 (en) 2020-07-15
IL272927A (en) 2020-04-30
AU2018327326A1 (en) 2020-03-19
CN111247599A (en) 2020-06-05
EP3679576A1 (en) 2020-07-15
SG11202001747XA (en) 2020-03-30
JP2020532989A (en) 2020-11-19
CA3075266A1 (en) 2019-03-14
KR102648634B1 (en) 2024-03-19
US11605444B2 (en) 2023-03-14
JP2023103325A (en) 2023-07-26
KR20200065000A (en) 2020-06-08
AU2023282218A1 (en) 2024-01-04
MX2020002665A (en) 2020-10-05
MX2020002664A (en) 2020-09-25
KR20200050992A (en) 2020-05-12
WO2019051233A1 (en) 2019-03-14
WO2019051238A1 (en) 2019-03-14
CN111279420B (en) 2024-01-16
US20190074092A1 (en) 2019-03-07
US20190205502A1 (en) 2019-07-04
JP7277438B2 (en) 2023-05-19
CN111279420A (en) 2020-06-12
IL272963A (en) 2020-04-30
US20220336045A1 (en) 2022-10-20
AU2018327331A1 (en) 2020-03-12
JP2020533679A (en) 2020-11-19
CA3075182A1 (en) 2019-03-14
CN117746978A (en) 2024-03-22
KR20240038142A (en) 2024-03-22

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