作者
Waqasuddin Khan, Ganapathi Varma Saripella, Thomas Ludwig, Tania Cuppens, Florian Thibord, Emmanuelle Génin, Jean-Francois Deleuze, David-Alexandre Trégouët
发表日期
2018/10/1
期刊
Bioinformatics
卷号
34
期号
19
页码范围
3396-3398
出版商
Oxford University Press
简介
Summary
Predicted deleteriousness of coding variants is a frequently used criterion to filter out variants detected in next-generation sequencing projects and to select candidates impacting on the risk of human diseases. Most available dedicated tools implement a base-to-base annotation approach that could be biased in presence of several variants in the same genetic codon. We here proposed the MACARON program that, from a standard VCF file, identifies, re-annotates and predicts the amino acid change resulting from multiple single nucleotide variants (SNVs) within the same genetic codon. Applied to the whole exome dataset of 573 individuals, MACARON identifies 114 situations where multiple SNVs within a genetic codon induce an amino acid change that is different from those predicted by standard single SNV annotation tool. Such events are not uncommon and deserve to be studied in …
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