How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

Human Mutation

Volumn 37, Issue 12, 2016, Pages 1272-1282

  Salgado, David ^a   Bellgard, Matthew I ^b,c   Desvignes, Jean Pierre ^a   Béroud, Christophe ^a,d  

^a AIX MARSEILLE UNIVERSITY   (France)

^b MURDOCH UNIVERSITY   (Australia)

^c Western Australian Research Inst   (Australia)

^d TIMONE HOSPITAL   (France)

Author keywords

good practices; high throughput sequencing; pathogenic mutation; variant annotation; variant filtration

Indexed keywords

PROTEIN;

GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE NOMENCLATURE; GENE SEQUENCE; GENETIC DATABASE; GENETIC VARIATION; HUMAN; HUMAN GENOME; INHERITANCE; MOLECULAR PATHOLOGY; MUTATION RATE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; REVIEW; WORKFLOW; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; MUTATION; PROCEDURES; SOFTWARE;

EXOME; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR SEQUENCE ANNOTATION; MUTATION; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84992461090     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23110     Document Type: Review

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