VarAFT: a variant annotation and filtration system for human next generation sequencing data
Author:
Affiliation:
1. Aix Marseille Univ, INSERM, MMG, 13005, Marseille, France
2. APHM, Hôpital d’Enfants de la Timone, Département de Génétique Médicale et de Biologie Cellulaire, 13385 Marseille, France
Funder
European Union Seventh Frame-work Program
Publisher
Oxford University Press (OUP)
Subject
Genetics
Link
http://academic.oup.com/nar/article-pdf/46/W1/W545/25110397/gky471.pdf
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4. How to identify pathogenic mutations among all those variations: variant annotation and filtration in the genome sequencing era;Salgado;Hum. Mutat.,2016
5. Settling the score: variant prioritization and Mendelian disease;Eilbeck;Nat. Rev. Genet.,2017
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