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

Bohu Pan; Luyao Ren; Vitor Onuchic; Meijian Guan; Rebecca Kusko; Steve Bruinsma; Len Trigg; Andreas Scherer; Baitang Ning; Chaoyang Zhang; Christine Glidewell-Kenney; Chunlin Xiao; Eric Donaldson; Fritz J. Sedlazeck; Gary Schroth; Gokhan Yavas; Haiying Grunenwald; Haodong Chen; Heather Meinholz; Joe Meehan; Jing Wang; Jingcheng Yang; Jonathan Foox; Jun Shang; Kelci Miclaus; Lianhua Dong; Leming Shi; Marghoob Mohiyuddin; Mehdi Pirooznia; Ping Gong; Rooz Golshani; Russ Wolfinger; Samir Lababidi; Sayed Mohammad Ebrahim Sahraeian; Steve Sherry; Tao Han; Tao Chen; Tieliu Shi; Wanwan Hou; Weigong Ge; Wen Zou; Wenjing Guo; Wenjun Bao; Wenzhong Xiao; Xiaohui Fan; Yoichi Gondo; Ying Yu; Yongmei Zhao; Zhenqiang Su; Zhichao Liu; Weida Tong; Wenming Xiao; Justin M. Zook; Yuanting Zheng; Huixiao Hong

doi:10.1186/s13059-021-02569-8

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

Bohu Pan, Luyao Ren, Vitor Onuchic, Meijian Guan, Rebecca Kusko, Steve Bruinsma, Len Trigg, Andreas Scherer, Baitang Ning, Chaoyang Zhang, Christine Glidewell-Kenney, Chunlin Xiao, Eric Donaldson, Fritz J. Sedlazeck, Gary Schroth, Gokhan Yavas, Haiying Grunenwald, Haodong Chen, Heather Meinholz, Joe MeehanJing Wang, Jingcheng Yang, Jonathan Foox, Jun Shang, Kelci Miclaus, Lianhua Dong, Leming Shi, Marghoob Mohiyuddin, Mehdi Pirooznia, Ping Gong, Rooz Golshani, Russ Wolfinger, Samir Lababidi, Sayed Mohammad Ebrahim Sahraeian, Steve Sherry, Tao Han, Tao Chen, Tieliu Shi, Wanwan Hou, Weigong Ge, Wen Zou, Wenjing Guo, Wenjun Bao, Wenzhong Xiao, Xiaohui Fan, Yoichi Gondo, Ying Yu, Yongmei Zhao, Zhenqiang Su, Zhichao Liu, Weida Tong, Wenming Xiao, Justin M. Zook, Yuanting Zheng, Huixiao Hong

Institute for Molecular Medicine Finland

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Article number	2
Journal	Genome Biology
Volume	23
Issue number	1
Number of pages	26
ISSN	1474-760X
DOIs	https://doi.org/10.1186/s13059-021-02569-8
Publication status	Published - 3 Jan 2022
MoE publication type	A1 Journal article-refereed

Fields of Science

DATA SETS
GENOTYPE
MUTATION
CANCER
318 Medical biotechnology
11832 Microbiology and virology
1184 Genetics, developmental biology, physiology

Access to Document

10.1186/s13059-021-02569-8

Assessing reproducibility of inherited ..Final published version, 13.6 MBLicence: CC BY

Cite this

Pan, B., Ren, L., Onuchic, V., Guan, M., Kusko, R., Bruinsma, S., Trigg, L., Scherer, A., Ning, B., Zhang, C., Glidewell-Kenney, C., Xiao, C., Donaldson, E., Sedlazeck, F. J., Schroth, G., Yavas, G., Grunenwald, H., Chen, H., Meinholz, H., ... Hong, H. (2022). Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biology, 23(1), Article 2. https://doi.org/10.1186/s13059-021-02569-8

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title = "Assessing reproducibility of inherited variants detected with short-read whole genome sequencing",

keywords = "DATA SETS, GENOTYPE, MUTATION, CANCER, 318 Medical biotechnology, 11832 Microbiology and virology, 1184 Genetics, developmental biology, physiology",

author = "Bohu Pan and Luyao Ren and Vitor Onuchic and Meijian Guan and Rebecca Kusko and Steve Bruinsma and Len Trigg and Andreas Scherer and Baitang Ning and Chaoyang Zhang and Christine Glidewell-Kenney and Chunlin Xiao and Eric Donaldson and Sedlazeck, {Fritz J.} and Gary Schroth and Gokhan Yavas and Haiying Grunenwald and Haodong Chen and Heather Meinholz and Joe Meehan and Jing Wang and Jingcheng Yang and Jonathan Foox and Jun Shang and Kelci Miclaus and Lianhua Dong and Leming Shi and Marghoob Mohiyuddin and Mehdi Pirooznia and Ping Gong and Rooz Golshani and Russ Wolfinger and Samir Lababidi and Sahraeian, {Sayed Mohammad Ebrahim} and Steve Sherry and Tao Han and Tao Chen and Tieliu Shi and Wanwan Hou and Weigong Ge and Wen Zou and Wenjing Guo and Wenjun Bao and Wenzhong Xiao and Xiaohui Fan and Yoichi Gondo and Ying Yu and Yongmei Zhao and Zhenqiang Su and Zhichao Liu and Weida Tong and Wenming Xiao and Zook, {Justin M.} and Yuanting Zheng and Huixiao Hong",

year = "2022",

month = jan,

day = "3",

doi = "10.1186/s13059-021-02569-8",

language = "English",

volume = "23",

journal = "Genome Biology",

issn = "1474-760X",

publisher = "BioMed Central Ltd",

number = "1",

}

Pan, B, Ren, L, Onuchic, V, Guan, M, Kusko, R, Bruinsma, S, Trigg, L, Scherer, A, Ning, B, Zhang, C, Glidewell-Kenney, C, Xiao, C, Donaldson, E, Sedlazeck, FJ, Schroth, G, Yavas, G, Grunenwald, H, Chen, H, Meinholz, H, Meehan, J, Wang, J, Yang, J, Foox, J, Shang, J, Miclaus, K, Dong, L, Shi, L, Mohiyuddin, M, Pirooznia, M, Gong, P, Golshani, R, Wolfinger, R, Lababidi, S, Sahraeian, SME, Sherry, S, Han, T, Chen, T, Shi, T, Hou, W, Ge, W, Zou, W, Guo, W, Bao, W, Xiao, W, Fan, X, Gondo, Y, Yu, Y, Zhao, Y, Su, Z, Liu, Z, Tong, W, Xiao, W, Zook, JM, Zheng, Y & Hong, H 2022, 'Assessing reproducibility of inherited variants detected with short-read whole genome sequencing', Genome Biology, vol. 23, no. 1, 2. https://doi.org/10.1186/s13059-021-02569-8

TY - JOUR

T1 - Assessing reproducibility of inherited variants detected with short-read whole genome sequencing

AU - Pan, Bohu

AU - Ren, Luyao

AU - Onuchic, Vitor

AU - Guan, Meijian

AU - Kusko, Rebecca

AU - Bruinsma, Steve

AU - Trigg, Len

AU - Scherer, Andreas

AU - Ning, Baitang

AU - Zhang, Chaoyang

AU - Glidewell-Kenney, Christine

AU - Xiao, Chunlin

AU - Donaldson, Eric

AU - Sedlazeck, Fritz J.

AU - Schroth, Gary

AU - Yavas, Gokhan

AU - Grunenwald, Haiying

AU - Chen, Haodong

AU - Meinholz, Heather

AU - Meehan, Joe

AU - Wang, Jing

AU - Yang, Jingcheng

AU - Foox, Jonathan

AU - Shang, Jun

AU - Miclaus, Kelci

AU - Dong, Lianhua

AU - Shi, Leming

AU - Mohiyuddin, Marghoob

AU - Pirooznia, Mehdi

AU - Gong, Ping

AU - Golshani, Rooz

AU - Wolfinger, Russ

AU - Lababidi, Samir

AU - Sahraeian, Sayed Mohammad Ebrahim

AU - Sherry, Steve

AU - Han, Tao

AU - Chen, Tao

AU - Shi, Tieliu

AU - Hou, Wanwan

AU - Ge, Weigong

AU - Zou, Wen

AU - Guo, Wenjing

AU - Bao, Wenjun

AU - Xiao, Wenzhong

AU - Fan, Xiaohui

AU - Gondo, Yoichi

AU - Yu, Ying

AU - Zhao, Yongmei

AU - Su, Zhenqiang

AU - Liu, Zhichao

AU - Tong, Weida

AU - Xiao, Wenming

AU - Zook, Justin M.

AU - Zheng, Yuanting

AU - Hong, Huixiao

PY - 2022/1/3

Y1 - 2022/1/3

KW - DATA SETS

KW - GENOTYPE

KW - MUTATION

KW - CANCER

KW - 318 Medical biotechnology

KW - 11832 Microbiology and virology

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1186/s13059-021-02569-8

DO - 10.1186/s13059-021-02569-8

M3 - Article

SN - 1474-760X

VL - 23

JO - Genome Biology

JF - Genome Biology

IS - 1

M1 - 2

ER -