A Combined Functional Annotation Score for Non-Synonymous Variants | Zendy

Margarida C. Lopes | Zendy; Christopher Joyce | Zendy; Graham R. S. Ritchie | Zendy; Sally John | Zendy; Fiona Cunningham | Zendy; Jennifer L. Asimit | Zendy; Eleftheria Zeggini | Zendy

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A Combined Functional Annotation Score for Non-Synonymous Variants

Author(s) -

Margarida C. Lopes,

Christopher Joyce,

Graham R. S. Ritchie,

Sally John,

Fiona Cunningham,

Jennifer L. Asimit,

Eleftheria Zeggini

Publication year - 2012

Publication title -

human heredity

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.423

H-Index - 62

eISSN - 1423-0062

pISSN - 0001-5652

DOI - 10.1159/000334984

Subject(s) - annotation , 1000 genomes project , exome , dbsnp , exome sequencing , in silico , computational biology , computer science , genetics , biology , mutation , gene , single nucleotide polymorphism , genotype

Next-generation sequencing has opened the possibility of large-scale sequence-based disease association studies. A major challenge in interpreting whole-exome data is predicting which of the discovered variants are deleterious or neutral. To address this question in silico, we have developed a score called Combined Annotation scoRing toOL (CAROL), which combines information from 2 bioinformatics tools: PolyPhen-2 and SIFT, in order to improve the prediction of the effect of non-synonymous coding variants.

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