Assessing reproducibility of inherited variants detected with short-read whole genome sequencing

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Pan, Bohu, Ren, Luyao, Onuchic, Vitor, Guan, Meijian, Kusko, Rebecca, Bruinsma, Steve, Trigg, Len, Scherer, Andreas, Ning, Baitang, Zhang, Chaoyang, Glidewell-Kenney, Christine, Xiao, Chunlin, Donaldson, Eric, Sedlazeck, Fritz J., Schroth, Gary, Yavas, Gokhan, Grunenwald, Haiying, Chen, Haodong, Meinholz, Heather, Meehan, Joe, Wang, Jing, Yang, Jingcheng, Foox, Jonathan, Shang, Jun, Miclaus, Kelci, Dong, Lianhua, Shi, Leming, Mohiyuddin, Marghoob, Pirooznia, Mehdi, Gong, Ping, Golshani, Rooz, Wolfinger, Russ, Lababidi, Samir, Sahraeian, Sayed Mohammad Ebrahim, Sherry, Steve, Han, Tao, Chen, Tao, Shi, Tieliu, Hou, Wanwan, Ge, Weigong, Zou, Wen, Guo, Wenjing, Bao, Wenjun, Xiao, Wenzhong, Fan, Xiaohui, Gondo, Yoichi, Yu, Ying, Zhao, Yongmei, Su, Zhenqiang, Liu, Zhichao, Tong, Weida, Xiao, Wenming, Zook, Justin M., Zheng, Yuanting, Hong, Huixiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8722114/
https://www.ncbi.nlm.nih.gov/pubmed/34980216
http://dx.doi.org/10.1186/s13059-021-02569-8

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