Cargando…

dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions

With the advance of sequencing technologies, whole exome sequencing has increasingly been used to identify mutations that cause human diseases, especially rare Mendelian diseases. Among the analysis steps, functional prediction (of being deleterious) plays an important role in filtering or prioritiz...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Xiaoming, Jian, Xueqiu, Boerwinkle, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145015/
https://www.ncbi.nlm.nih.gov/pubmed/21520341
http://dx.doi.org/10.1002/humu.21517