EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

BACKGROUND: Whole exome sequencing (WES) has become the strategy of choice to identify a coding allelic variant for a rare human monogenic disorder. This approach is a revolution in medical genetics history, impacting both fundamental research, and diagnostic methods leading to personalized medicine...

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Bibliographische Detailangaben
Hauptverfasser: Coutant, Sophie, Cabot, Chloé, Lefebvre, Arnaud, Léonard, Martine, Prieur-Gaston, Elise, Campion, Dominique, Lecroq, Thierry, Dauchel, Hélène
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2012
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3439720/
https://ncbi.nlm.nih.gov/pubmed/23095660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-13-S14-S9
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