Identification of functional genetic variation in exome sequence analysis.

ABSTRACT: Recent technological advances have allowed us to study individual genomes at a base-pair resolution and have demonstrated that the average exome harbors more than 15,000 genetic variants. However, our ability to understand the biological significance of the identified variants and to connect these observed variants with phenotypes is limited. The first step in this process is to identify genetic variation that is likely to result in changes to protein structure and function, because detailed studies, either population based or functional, for each of the identified variants are not practicable. Therefore algorithms that yield valid predictions of a variant's functional significance are needed. Over the past decade, several programs have been developed to predict the probability that an obs

SUBMITTER: Jaffe A 

PROVIDER: S-EPMC3287847 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature