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VarAFT: a variant annotation and filtration system for human next generation sequencing data

Authors :
Martin Krahn
Morgane Miltgen
Christophe Béroud
Marc Bartoli
Jean-Pierre Desvignes
Valérie Delague
David Salgado
Marseille medical genetics - Centre de génétique médicale de Marseille (MMG)
Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Département de génétique médicale [Hôpital de la Timone - APHM]
Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)
Gall, Valérie
Source :
Nucleic Acids Research, Nucleic Acids Research, Oxford University Press, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩
Publication Year :
2018
Publisher :
Oxford University Press (OUP), 2018.

Abstract

International audience; With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In

Details

ISSN :
13624962 and 03051048
Volume :
46
Database :
OpenAIRE
Journal :
Nucleic Acids Research
Accession number :
edsair.doi.dedup.....ca61cc8ee2647a3bf67d02938475dba7
Full Text :
https://doi.org/10.1093/nar/gky471