Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants

Human Mutation

Volumn 34, Issue 6, 2013, Pages 836-841

  Kenna, Kevin P ^a   Mclaughlin, Russell L ^a   Hardiman, Orla ^a   Bradley, Daniel G ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

1000 genomes; ALS; Amyotrophic lateral sclerosis; dbSNP; Exome sequencing; NHLBI exome sequencing project; Resequencing; Variant filtering

Indexed keywords

ARTICLE; GENE LOCUS; GENE MUTATION; GENETIC DATABASE; GENETIC VARIABILITY; GENOME; HUMAN; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOMICS; HUMANS; MODELS, GENETIC; MUTATION; PENETRANCE;

EID: 84878162250     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22303     Document Type: Article

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