A variant by any name: Quantifying annotation discordance across tools and clinical databases

Genome Medicine

Volumn 9, Issue 1, 2017, Pages

  Yen, Jennifer L ^a   Garcia, Sarah ^a,b   Montana, Aldrin ^a   Harris, Jason ^a   Chervitz, Stephen ^a   Morra, Massimo ^a   West, John ^a   Chen, Richard ^a   Church, Deanna M ^a,b  

^a Personalis   (United States)

^b 10X Genomics ^*  (United States)

Author keywords

Annotation; Clinical testing; Genomics; HGVS; Precision medicine; Sequencing; Syntax; Variant

Indexed keywords

PROTEIN VARIANT;

ARTICLE; CLINVAR DATABASE; COSMIC DATABASE; DATA BASE; GENE DELETION; GENE INSERTION; GENE NOMENCLATURE; GENETIC VARIATION; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; PERSONALIZED MEDICINE; SINGLE NUCLEOTIDE VARIATION; SOFTWARE; BIOLOGY; COMPARATIVE STUDY; GENETIC DATABASE; INDEL MUTATION; MEASUREMENT ACCURACY; MOLECULAR GENETICS; STANDARDS;

COMPUTATIONAL BIOLOGY; DATA ACCURACY; DATABASES, GENETIC; GENETIC VARIATION; GENOME, HUMAN; HUMANS; INDEL MUTATION; MOLECULAR SEQUENCE ANNOTATION; SOFTWARE;

EID: 85011114753     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-016-0396-7     Document Type: Article

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