Assessing reproducibility of inherited variants detected with short-read whole genome sequencing
Abstract
Reproducible detection of inherited variants with whole genome sequencing (WGS) is vital for the implementation of precision medicine and is a complicated process in which each step affects variant call quality. Systematically assessing reproducibility of inherited variants with WGS and impact of each step in the process is needed for understanding and improving quality of inherited variants from WGS.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Jan 03, 2022
- Source ID
- 10.1186/s13059-021-02569-8
Entities
People
- Andreas Scherer
- Baitang Ning
- Bohu Pan
- Chaoyang Zhang
- Christine Glidewell-kenney
- Chunlin Xiao
- Eric Donaldson
- Fritz J. Sedlazeck
- Gary Schroth
- Gokhan Yavas
- Haiying Grunenwald
- Haodong Chen
- Heather Meinholz
- Huixiao Hong
- Jing Wang
- Jingcheng Yang
- Joe Meehan
- Jonathan Foox
- Jun Shang
- Justin M. Zook
- Kelci Miclaus
- Leming Shi
- Len Trigg
- Lianhua Dong
- Luyao Ren
- Marghoob Mohiyuddin
- Mehdi Pirooznia
- Meijian Guan
- Ping Gong
- Rebecca Kusko
- Rooz Golshani
- Russ Wolfinger
- Samir Lababidi
- Sayed Mohammad Ebrahim Sahraeian
- Steve Bruinsma
- Steve Sherry
- Tao Chen
- Tao Han
- Tieliu Shi
- Vitor Onuchic
- Wanwan Hou
- Weida Tong
- Weigong Ge
- Wen Zou
- Wenjing Guo
- Wenjun Bao
- Wenming Xiao
- Wenzhong Xiao
- Xiaohui Fan
- Ying Yu
- Yoichi Gondo
- Yongmei Zhao
- Yuanting Zheng
- Zhenqiang Su
- Zhichao Liu