Article
Localized structural frustration for evaluating the impact of sequence variants.
Nucleic acids research - 1 Dec 2016
Kumar Sushant, Clarke Declan, Gerstein Mark
Abstract excerpt
Population-scale sequencing is increasingly uncovering large numbers of rare single-nucleotide variants (SNVs) in coding regions of the genome. The rarity of these variants makes it challenging to evaluate their deleteriousness with conventional phenotype-genotype associations. Protein structures provide a way of addressing this challenge. Previous efforts have focused on globally quantifying the impact of SNVs...
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