Finding disease variants in Mendelian disorders by using sequence data: methods and applications.

ABSTRACT: Many sequencing studies are now underway to identify the genetic causes for both Mendelian and complex traits. Via exome-sequencing, genes harboring variants implicated in several Mendelian traits have already been identified. The underlying methodology in these studies is a multistep algorithm based on filtering variants identified in a small number of affected individuals and depends on whether they are novel (not yet seen in public resources such as dbSNP), shared among affected individuals, and other external functional information on the variants. Although intuitive, these filter-based methods are nonoptimal and do not provide any measure of statistical uncertainty. We describe here a formal statistical approach that has several distinct advantages: (1) it provides fast computation of

SUBMITTER: Ionita-Laza I 

PROVIDER: S-EPMC3234377 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature