Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

ABSTRACT: Several large ongoing initiatives that profit from next-generation sequencing technologies have driven--and in coming years will continue to drive--the emergence of long catalogs of missense single-nucleotide variants (SNVs) in the human genome. As a consequence, researchers have developed various methods and their related computational tools to classify these missense SNVs as probably deleterious or probably neutral polymorphisms. The outputs produced by each of these computational tools are of different natures and thus difficult to compare and integrate. Taking advantage of the possible complementarity between different tools might allow more accurate classifications. Here we propose an effective approach to integrating the output of some of these tools into a unified classification; th

SUBMITTER: Gonzalez-Perez A 

PROVIDER: S-EPMC3071923 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature