Article
Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.
Nature biotechnology - 1 Sept 2021
Fang Li Tai, Zhu Bin, Zhao Yongmei, Chen Wanqiu, Yang Zhaowei, Kerrigan Liz, Langenbach Kurt, de Mars Maryellen, Lu Charles, Idler Kenneth, Jacob Howard, Zheng Yuanting, Ren Luyao, Yu Ying, Jaeger Erich, Schroth Gary P, Abaan Ogan D, Talsania Keyur, Lack Justin, Shen Tsai-Wei, Chen Zhong, Stanbouly Seta, Tran Bao, Shetty Jyoti, Kriga Yuliya, Meerzaman Daoud, Nguyen Cu, Petitjean Virginie, Sultan Marc, Cam Margaret, Mehta Monika, Hung Tiffany, Peters Eric, Kalamegham Rasika, Sahraeian Sayed Mohammad Ebrahim, Mohiyuddin Marghoob, Guo Yunfei, Yao Lijing, Song Lei, Lam Hugo Y K, Drabek Jiri, Vojta Petr, Maestro Roberta, Gasparotto Daniela, Kõks Sulev, Reimann Ene, Scherer Andreas, Nordlund Jessica, Liljedahl Ulrika, Jensen Roderick V, Pirooznia Mehdi, Li Zhipan, Xiao Chunlin, Sherry Stephen T, Kusko Rebecca, Moos Malcolm, Donaldson Eric, Tezak Zivana, Ning Baitang, Tong Weida, Li Jing, Duerken-Hughes Penelope, Catalanotti Claudia, Maheshwari Shamoni, Shuga Joe, Liang Winnie S, Keats Jonathan, Adkins Jonathan, Tassone Erica, Zismann Victoria, McDaniel Timothy, Trent Jeffrey, Foox Jonathan, Butler Daniel, Mason Christopher E, Hong Huixiao, Shi Leming, Wang Charles, Xiao Wenming
Abstract excerpt
The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms limits the implementation and uptake of cancer genomics. Here, we describe reference call sets obtained from paired tumor-normal genomic DNA (gDNA) samples derived from a breast cancer cell line-which is highly heterogeneous, with an aneuploid genome, and...
Read the complete abstract on PubMed