Article

Localized structural frustration for evaluating the impact of sequence variants

2016-05-07

Abstract excerpt

The rapidly declining costs of sequencing human genomes and exomes are providing deeper insights into genomic variation than previously possible. Growing sequence datasets are uncovering large numbers of rare single-nucleotide variants (SNVs) in coding regions, many of which may even be unique to single individuals. The rarity of such variants makes it difficult to use conventional variant-phenotype associations a...

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Literature Corpus work: 82383141-1c99-5224-b299-c57139308b21
DOI: 10.1101/052027

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