Taliun et al., 2021 - Google Patents

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Taliun et al., 2021

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Document ID
6899392444882239431
Author
Taliun D
Harris D
Kessler M
Carlson J
Szpiech Z
Torres R
Taliun S
Corvelo A
Gogarten S
Kang H
Pitsillides A
LeFaive J
Lee S
Tian X
Browning B
Das S
Emde A
Clarke W
Loesch D
Shetty A
Blackwell T
Smith A
Wong Q
Liu X
Conomos M
Bobo D
Aguet F
Albert C
Alonso A
Ardlie K
Arking D
Aslibekyan S
Auer P
Barnard J
Barr R
Barwick L
Becker L
Beer R
Benjamin E
Bielak L
Blangero J
Boehnke M
Bowden D
Brody J
Burchard E
Cade B
Casella J
Chalazan B
Chasman D
Chen Y
Cho M
Choi S
Chung M
Clish C
Correa A
Curran J
Custer B
Darbar D
Daya M
de Andrade M
DeMeo D
Dutcher S
Ellinor P
Emery L
Eng C
Fatkin D
Fingerlin T
Forer L
Fornage M
Franceschini N
Fuchsberger C
Fullerton S
Germer S
Gladwin M
Gottlieb D
Guo X
Hall M
He J
Heard-Costa N
Heckbert S
Irvin M
Johnsen J
Johnson A
Kaplan R
Kardia S
Kelly T
Kelly S
Kenny E
Kiel D
Klemmer R
Konkle B
Kooperberg C
Köttgen A
Lange L
Lasky-Su J
Levy D
Lin X
Lin K
Liu C
Loos R
Garman L
Gerszten R
Lubitz S
Lunetta K
Mak A
Manichaikul A
Manning A
Mathias R
McManus D
McGarvey S
Meigs J
Meyers D
Mikulla J
Minear M
Mitchell B
Mohanty S
Montasser M
Montgomery C
Morrison A
Murabito J
Natale A
Natarajan P
Nelson S
North K
O’Connell J
Palmer N
Pankratz N
Peloso G
Peyser P
Pleiness J
Post W
Psaty B
Rao D
Redline S
Reiner A
Roden D
Rotter J
Ruczinski I
Sarnowski C
Schoenherr S
Schwartz D
Seo J
Seshadri S
Sheehan V
Sheu W
Shoemaker M
Smith N
Smith J
Sotoodehnia N
Stilp A
Publication year
Publication venue
Nature

External Links

Snippet

Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial …
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    • G—PHYSICS
    • G06—COMPUTING; CALCULATING; COUNTING
    • G06F—ELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING; COUNTING
    • G06F—ELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING; COUNTING
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    • G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/28—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING; COUNTING
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    • G06F19/24—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING; COUNTING
    • G06F—ELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/30—Medical informatics, i.e. computer-based analysis or dissemination of patient or disease data
    • G06F19/32—Medical data management, e.g. systems or protocols for archival or communication of medical images, computerised patient records or computerised general medical references
    • G06F19/322—Management of patient personal data, e.g. patient records, conversion of records or privacy aspects
    • G—PHYSICS
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    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/20—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING; COUNTING
    • G06F—ELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/14—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for phylogeny or evolution, e.g. evolutionarily conserved regions determination or phylogenetic tree construction
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    • G06—COMPUTING; CALCULATING; COUNTING
    • G06F—ELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/30—Medical informatics, i.e. computer-based analysis or dissemination of patient or disease data
    • G06F19/34—Computer-assisted medical diagnosis or treatment, e.g. computerised prescription or delivery of medication or diets, computerised local control of medical devices, medical expert systems or telemedicine
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    • G06Q—DATA PROCESSING SYSTEMS OR METHODS, SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL, SUPERVISORY OR FORECASTING PURPOSES; SYSTEMS OR METHODS SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL, SUPERVISORY OR FORECASTING PURPOSES, NOT OTHERWISE PROVIDED FOR
    • G06Q50/00—Systems or methods specially adapted for a specific business sector, e.g. utilities or tourism
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    • G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; 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 micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
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    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
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    • G06—COMPUTING; CALCULATING; COUNTING
    • G06F—ELECTRICAL DIGITAL DATA PROCESSING
    • G06F21/00—Security arrangements for protecting computers, components thereof, programs or data against unauthorised activity

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