Integrating 400 million variants from 80,000 human samples with extensive annotations: Towards a knowledge base to analyze disease cohorts

BMC Bioinformatics

Volumn 17, Issue 1, 2016, Pages

  Hakenberg, Jörg ^a,c   Cheng, Wei Yi ^a,c   Thomas, Philippe ^a,d   Wang, Ying Chih ^b,e   Uzilov, Andrew V ^a   Chen, Rong ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b HUMBOLDT UNIVERSITY   (Germany)

^c ILLUMINA INC   (United States)

^d Roche Pharmaceutical Research and Early Development   (United States)

^e GERMAN RESEARCH CENTER FOR ARTIFICIAL INTELLIGENCE DFKI   (Germany)

Author keywords

Database; Genetics; Variant annotation

Indexed keywords

DATABASE SYSTEMS; GENES; HTTP; KNOWLEDGE BASED SYSTEMS; RISK ASSESSMENT;

DISEASE ASSOCIATIONS; GENE PRIORITIZATION; GENE-DISEASE ASSOCIATIONS; GENETIC VARIANTS; GENETICS; HIGH-THROUGHPUT SEQUENCING; KNOWLEDGE BASE; VARIANT ANNOTATION;

POPULATION STATISTICS;

DISEASES; GENETIC DATABASE; GENETIC VARIATION; GENETICS; GENOTYPING TECHNIQUE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; KNOWLEDGE BASE; MOLECULAR GENETICS; PROCEDURES; REFERENCE VALUE; RISK FACTOR;

DATABASES, GENETIC; DISEASE; GENETIC VARIATION; GENOME, HUMAN; GENOTYPING TECHNIQUES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KNOWLEDGE BASES; MOLECULAR SEQUENCE ANNOTATION; REFERENCE VALUES; RISK FACTORS;

EID: 84953398539     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/s12859-015-0865-9     Document Type: Article

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