Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study

Ventricular septal defect (VSD) is a fatal congenital heart disease showing severe consequence in affected infants. Early diagnosis plays an important role, particularly through genetic variants. Existing panel-based approaches of variants mining suffer from shortage of large panels, costly sequenci...

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Bibliografiske detaljer
Main Authors: Peng Jiang, Yaofei Hu, Yiqi Wang, Jin Zhang, Qinghong Zhu, Lin Bai, Qiang Tong, Tao Li, Liang Zhao
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019-08-01
Serier:Frontiers in Genetics
Fag:
trio-sequencing
k-mer filtering
variant calling
ventricular septal defect
association study
long non-coding RNA
Online adgang:https://www.frontiersin.org/article/10.3389/fgene.2019.00670/full
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