Somatic cancer variant curation and harmonization through consensus minimum variant level data

Genome Medicine

Volumn 8, Issue 1, 2016, Pages

  Ritter, Deborah I ^a   Roychowdhury, Sameek ^b   Roy, Angshumoy ^a   Rao, Shruti ^c   Landrum, Melissa J ^d   Sonkin, Dmitriy ^e   Shekar, Mamatha ^f   Davis, Caleb F ^g   Hart, Reece K ^h   Micheel, Christine ⁱ   Weaver, Meredith ^j   Van Allen, Eliezer M ^k   Parsons, Donald W ^a   McLeod, Howard L ^l   Watson, Michael S ^j   Plon, Sharon E ^a   Kulkarni, Shashikant ^a   Madhavan, Subha ^c  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c GEORGETOWN UNIVERSITY   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e NATIONAL CANCER INSTITUTE   (United States)

^f ILLUMINA INC   (United States)

^g MolecularMatch   (United States)

^h Clinical Molecular Geneticist and Cytogeneticist Invitae Corportation   (United States)

ⁱ VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j American College of Medical Genetics   (United States)

^k DANA FARBER CANCER INSTITUTE   (United States)

^l H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

more..

Author keywords

Cancer genomics; Data standard; Somatic variant curation; Somatic variant interpretation

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME; COMMON DATA ELEMENTS; DISEASE ONTOLOGY; DNA SEQUENCE; GENE ONTOLOGY; GENETIC VARIABILITY; GERMLINE MUTATION; INTERNATIONAL CLASSIFICATION OF DISEASES; MEDICAL TERMINOLOGY; MINIMUM VARIANT LEVEL DATA; ONCOLOGY; PERSONALIZED MEDICINE; PRACTICE GUIDELINE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; ALGORITHM; CONSENSUS DEVELOPMENT; GENE FREQUENCY; GENETIC DATABASE; GENETIC VARIATION; GENETICS; HUMAN; INFORMATION PROCESSING; NEOPLASM; STANDARDS;

ALGORITHMS; DATA CURATION; DATABASES, GENETIC; GENE FREQUENCY; GENETIC VARIATION; HUMANS; NEOPLASMS; PRECISION MEDICINE;

EID: 84997207493     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-016-0367-z     Document Type: Article

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