VaRank: a simple and powerful tool for ranking genetic variants

Background. Most genetic disorders are caused by single nucleotide variations (SNVs) or small insertion/deletions (indels). High throughput sequencing has broadened the catalogue of human variation, including common polymorphisms, rare variations or disease causing mutations. However, identifying on...

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Detalhes bibliográficos
Publicado no:PeerJ
Main Authors: Geoffroy, Véronique, Pizot, Cécile, Redin, Claire, Piton, Amélie, Vasli, Nasim, Stoetzel, Corinne, Blavier, André, Laporte, Jocelyn, Muller, Jean
Formato: Artigo
Idioma:Inglês
Publicado em: PeerJ Inc. 2015
Assuntos:
Bioinformatics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4358652/
https://ncbi.nlm.nih.gov/pubmed/25780760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.796
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