A Combined Functional Annotation Score for Non-Synonymous Variants
نویسندگان
چکیده
منابع مشابه
A combined functional annotation score for non-synonymous variants.
AIMS 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 bioinfor...
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The in silico prediction of the functional consequences of mutations is an important goal of human pathogenetics. However, bioinformatic tools that classify mutations according to their functionality employ different algorithms so that predictions may vary markedly between tools. We therefore integrated nine popular prediction tools (PolyPhen-2, SNPs&GO, MutPred, SIFT, MutationTaster2, Mutation...
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Unravelling the genotype-phenotype relationship in humans remains a challenging task in genomics studies. Recent advances in sequencing technologies mean there are now thousands of sequenced human genomes, revealing millions of single nucleotide variants (SNVs). For non-synonymous SNVs present in proteins the difficulties of the problem lie in first identifying those nsSNVs that result in a fun...
متن کاملFunctional Characterization Improves Associations between Rare Non-Synonymous Variants in CHRNB4 and Smoking Behavior
Smoking is the leading cause of preventable death worldwide. Accordingly, effort has been devoted to determining the genetic variants that contribute to smoking risk. Genome-wide association studies have identified several variants in nicotinic acetylcholine receptor genes that contribute to nicotine dependence risk. We previously undertook pooled sequencing of the coding regions and flanking s...
متن کاملCorrection: Functional Characterization Improves Associations between Rare Non-Synonymous Variants in CHRNB4 and Smoking Behavior
The Data Availability statement does not appear on the paper. The correct Data Availability statement is: The authors confirm that all data underlying the findings are freely available without restriction. All data are included within the paper. The publisher apologizes for this error. Copyright: ß 2014 The PLOS ONE Staff. This is an open-access article distributed under the terms of the Creati...
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ژورنال
عنوان ژورنال: Human Heredity
سال: 2012
ISSN: 0001-5652,1423-0062
DOI: 10.1159/000334984