Article
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.
American journal of human genetics - 8 Apr 2011
González-Pérez Abel, López-Bigas Nuria
Abstract excerpt
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...
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