Original paper
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
Abstract
Identifying disease-causing genetic variants in individual human genomes is a major challenge, even in protein-coding exons (the `exome'). Analysis of nucleotide-level sequence conservation may help address this challenge, on the assumption that purifying selection `constrains' evolutionary divergence at phenotypically important nucleotides. In contrast to functional classifiers (for example, non-synonymous mutations), constraint scores are...
Paper Details
Title
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
Published Date
Apr 1, 2010
Journal
Volume
7
Issue
4
Pages
250 - 251
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Notes
History