VaRank: A simple and powerful tool for ranking genetic variants

PeerJ

Volumn 2015, Issue 3, 2015, Pages

  Geoffroy, Véronique ^a   Pizot, Cécile ^a   Redin, Claire ^a   Piton, Amélie ^a,b   Vasli, Nasim ^a   Stoetzel, Corinne ^a   Blavier, André ^c   Laporte, Jocelyn ^a   Muller, Jean ^a,b  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c Interactive Biosoftware   (France)

Author keywords

Annotation; Barcode; Human genetics; Molecular diagnostic; Mutation detection; Next generation sequencing; Software; Variant ranking

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; BARDET BIEDL SYNDROME; BIOINFORMATICS; COMPUTER PROGRAM; DNA BARCODING; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENETICS; INFORMATION PROCESSING; INTELLECTUAL IMPAIRMENT; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PATHOGENICITY;

EID: 84926483364     PISSN: None     EISSN: 21678359     Source Type: Journal    
DOI: 10.7717/peerj.796     Document Type: Article

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