A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

Bioinformatics

Volumn 31, Issue 2, 2015, Pages 268-270

  Hart, Reece K ^a,b   Rico, Rudolph ^a   Hare, Emily ^a   Garcia, John ^a   Westbrook, Jody ^a   Fusaro, Vincent A ^a  

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

^b 23andMe Inc ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGY; FACTUAL DATABASE; GENETIC VARIATION; GENETICS; HUMAN; HUMAN GENOME; MOLECULAR GENETICS; NOMENCLATURE; PROCEDURES; SOFTWARE;

COMPUTATIONAL BIOLOGY; DATABASES, FACTUAL; GENETIC VARIATION; GENOME, HUMAN; HUMANS; MOLECULAR SEQUENCE ANNOTATION; SOFTWARE; TERMINOLOGY AS TOPIC;

EID: 84928990715     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/btu630     Document Type: Article

References (9)

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