An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

ABSTRACT:

Background

Personal genome analysis is now being considered for evaluation of disease risk in healthy individuals, utilizing both rare and common variants. Multiple scores have been developed to predict the deleteriousness of amino acid substitutions, using information on the allele frequencies, level of evolutionary conservation, and averaged structural evidence. However, agreement among these scores is limited and they likely over-estimate the fraction of the genome that is deleterious.

Method

This study proposes an integrative approach to identify a subset of homozygous non-synonymous single nucleotide polymorphisms (nsSNPs). An 8-level classification scheme is constructed from the presence/absence of deleterious predictions combined with evidence of association with dise

SUBMITTER: Preeprem T 

PROVIDER: S-EPMC3892026 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature