VarMod: modelling the functional effects of non-synonymous variants
نویسندگان
چکیده
منابع مشابه
VarMod: modelling the functional effects of non-synonymous variants
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 کاملA combined functional annotation score for non-synonymous variants.
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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...
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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: Nucleic Acids Research
سال: 2014
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gku483