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

• Main Authors: Yu Liang (Author), Li He (Author), Yiru Zhao (Author), Yinyi Hao (Author), Yifan Zhou (Author), Menglong Li (Author), Chuan Li (Author), Xuemei Pu (Author), Zhining Wen (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...