Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the de novo Mutations in Humans

Despite of the low occurrence rate in the entire genomes, de novo mutation is proved to be deleterious and will lead to severe genetic diseases via impacting on the gene function. Considering the fact that the traditional family based linkage approaches and the genome-wide association studies are un...

Descripción completa

Detalles Bibliográficos
Autores principales: Liang, Yu, He, Li, Zhao, Yiru, Hao, Yinyi, Zhou, Yifan, Li, Menglong, Li, Chuan, Pu, Xuemei, Wen, Zhining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499170/
https://www.ncbi.nlm.nih.gov/pubmed/31105557
http://dx.doi.org/10.3389/fphar.2019.00358

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499170/
https://www.ncbi.nlm.nih.gov/pubmed/31105557
http://dx.doi.org/10.3389/fphar.2019.00358

Ejemplares similares