Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

The Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium

doi:10.1038/s41587-021-00993-6

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

The Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium

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

Original language	English
Pages (from-to)	1151-1160
Number of pages	10
Journal	Nature Biotechnology
Volume	39
Issue number	9
DOIs	https://doi.org/10.1038/s41587-021-00993-6
State	Published - Sep 2021

ASJC Scopus Subject Areas

Biotechnology
Bioengineering
Applied Microbiology and Biotechnology
Molecular Medicine
Biomedical Engineering

Keywords

Reference Standards
Reproducibility of Results
DNA Mutational Analysis/standards
Datasets as Topic
Humans
Cell Line, Tumor
Benchmarking
Breast Neoplasms/genetics
High-Throughput Nucleotide Sequencing/standards
Mutation
Germ Cells
Whole Genome Sequencing/standards

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10.1038/s41587-021-00993-6

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@article{b7bad20ec3274c81bd3bf9e0fa99ff22,

title = "Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing",

keywords = "Reference Standards, Reproducibility of Results, DNA Mutational Analysis/standards, Datasets as Topic, Humans, Cell Line, Tumor, Benchmarking, Breast Neoplasms/genetics, High-Throughput Nucleotide Sequencing/standards, Mutation, Germ Cells, Whole Genome Sequencing/standards",

author = "{The Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium} and Fang, {Li Tai} and Bin Zhu and Yongmei Zhao and Wanqiu Chen and Zhaowei Yang and Liz Kerrigan and Kurt Langenbach and {de Mars}, Maryellen and Charles Lu and Kenneth Idler and Howard Jacob and Yuanting Zheng and Luyao Ren and Ying Yu and Erich Jaeger and Schroth, {Gary P.} and Abaan, {Ogan D.} and Keyur Talsania and Justin Lack and Shen, {Tsai Wei} and Zhong Chen and Seta Stanbouly and Bao Tran and Jyoti Shetty and Yuliya Kriga and Daoud Meerzaman and Cu Nguyen and Virginie Petitjean and Marc Sultan and Margaret Cam and Monika Mehta and Tiffany Hung and Eric Peters and Rasika Kalamegham and Sahraeian, {Sayed Mohammad Ebrahim} and Marghoob Mohiyuddin and Yunfei Guo and Lijing Yao and Lei Song and Lam, {Hugo Y.K.} and Jiri Drabek and Petr Vojta and Roberta Maestro and Daniela Gasparotto and Sulev K{\~o}ks and Ene Reimann and Andreas Scherer and Jessica Nordlund and Ulrika Liljedahl and Jensen, {Roderick V.} and Mehdi Pirooznia and Zhipan Li and Chunlin Xiao and Sherry, {Stephen T.} and Rebecca Kusko and Malcolm Moos and Eric Donaldson and Zivana Tezak and Baitang Ning and Weida Tong and Jing Li and Duerksen-Hughes, {Penelope J.} and Claudia Catalanotti and Shamoni Maheshwari and Joe Shuga and Liang, {Winnie S.} and Jonathan Keats and Jonathan Adkins and Erica Tassone and Victoria Zismann and Timothy McDaniel and Jeffrey Trent and Jonathan Foox and Daniel Butler and Mason, {Christopher E.} and Huixiao Hong and Leming Shi and Charles Wang and Wenming Xiao",

note = "Publisher Copyright: {\textcopyright} 2021, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.",

year = "2021",

month = sep,

doi = "10.1038/s41587-021-00993-6",

language = "English",

volume = "39",

pages = "1151--1160",

journal = "Nature Biotechnology",

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TY - JOUR

T1 - Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

AU - The Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium

AU - Fang, Li Tai

AU - Zhu, Bin

AU - Zhao, Yongmei

AU - Chen, Wanqiu

AU - Yang, Zhaowei

AU - Kerrigan, Liz

AU - Langenbach, Kurt

AU - de Mars, Maryellen

AU - Lu, Charles

AU - Idler, Kenneth

AU - Jacob, Howard

AU - Zheng, Yuanting

AU - Ren, Luyao

AU - Yu, Ying

AU - Jaeger, Erich

AU - Schroth, Gary P.

AU - Abaan, Ogan D.

AU - Talsania, Keyur

AU - Lack, Justin

AU - Shen, Tsai Wei

AU - Chen, Zhong

AU - Stanbouly, Seta

AU - Tran, Bao

AU - Shetty, Jyoti

AU - Kriga, Yuliya

AU - Meerzaman, Daoud

AU - Nguyen, Cu

AU - Petitjean, Virginie

AU - Sultan, Marc

AU - Cam, Margaret

AU - Mehta, Monika

AU - Hung, Tiffany

AU - Peters, Eric

AU - Kalamegham, Rasika

AU - Sahraeian, Sayed Mohammad Ebrahim

AU - Mohiyuddin, Marghoob

AU - Guo, Yunfei

AU - Yao, Lijing

AU - Song, Lei

AU - Lam, Hugo Y.K.

AU - Drabek, Jiri

AU - Vojta, Petr

AU - Maestro, Roberta

AU - Gasparotto, Daniela

AU - Kõks, Sulev

AU - Reimann, Ene

AU - Scherer, Andreas

AU - Nordlund, Jessica

AU - Liljedahl, Ulrika

AU - Jensen, Roderick V.

AU - Pirooznia, Mehdi

AU - Li, Zhipan

AU - Xiao, Chunlin

AU - Sherry, Stephen T.

AU - Kusko, Rebecca

AU - Moos, Malcolm

AU - Donaldson, Eric

AU - Tezak, Zivana

AU - Ning, Baitang

AU - Tong, Weida

AU - Li, Jing

AU - Duerksen-Hughes, Penelope J.

AU - Catalanotti, Claudia

AU - Maheshwari, Shamoni

AU - Shuga, Joe

AU - Liang, Winnie S.

AU - Keats, Jonathan

AU - Adkins, Jonathan

AU - Tassone, Erica

AU - Zismann, Victoria

AU - McDaniel, Timothy

AU - Trent, Jeffrey

AU - Foox, Jonathan

AU - Butler, Daniel

AU - Mason, Christopher E.

AU - Hong, Huixiao

AU - Shi, Leming

AU - Wang, Charles

AU - Xiao, Wenming

PY - 2021/9

Y1 - 2021/9

KW - Reference Standards

KW - Reproducibility of Results

KW - DNA Mutational Analysis/standards

KW - Datasets as Topic

KW - Humans

KW - Cell Line, Tumor

KW - Benchmarking

KW - Breast Neoplasms/genetics

KW - High-Throughput Nucleotide Sequencing/standards

KW - Mutation

KW - Germ Cells

KW - Whole Genome Sequencing/standards

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DO - 10.1038/s41587-021-00993-6

M3 - Article

C2 - 34504347

AN - SCOPUS:85115970978

SN - 1087-0156

VL - 39

SP - 1151

EP - 1160

JO - Nature Biotechnology

JF - Nature Biotechnology

IS - 9

ER -

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

ASJC Scopus Subject Areas

Keywords

Access to Document

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