MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants
Author:
Affiliation:
1. IRCCS Casa Sollievo della Sofferenza; Istituto Mendel, Bioinformatics Unit. Viale Regina Margherita; 261. 00198 Roma Italy
Funder
Italian Ministry of Health - Ricerca Corrente 2014
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference39 articles.
1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet,2013
2. Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation;Balloux;Proc Biol Sci,2009
3. SNAP: predict effect of non-synonymous polymorphisms on function;Bromberg;Nucleic Acids Res,2007
4. Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools;Castellana;Brief Bioinform,2013
5. Evolutionary patterns of the mitochondrial genome in Metazoa: exploring the role of mutation and selection in mitochondrial protein coding genes;Castellana;Genome Biol Evol.,2011
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