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Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.
Ren, Luyao; Duan, Xiaoke; Dong, Lianhua; Zhang, Rui; Yang, Jingcheng; Gao, Yuechen; Peng, Rongxue; Hou, Wanwan; Liu, Yaqing; Li, Jingjing; Yu, Ying; Zhang, Naixin; Shang, Jun; Liang, Fan; Wang, Depeng; Chen, Hui; Sun, Lele; Hao, Lingtong; Scherer, Andreas; Nordlund, Jessica; Xiao, Wenming; Xu, Joshua; Tong, Weida; Hu, Xin; Jia, Peng; Ye, Kai; Li, Jinming; Jin, Li; Hong, Huixiao; Wang, Jing; Fan, Shaohua; Fang, Xiang; Zheng, Yuanting; Shi, Leming.
Afiliação
  • Ren L; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Duan X; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Dong L; National Institute of Metrology, Beijing, China.
  • Zhang R; National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital, Beijing, China.
  • Yang J; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Gao Y; Greater Bay Area Institute of Precision Medicine, Guangzhou, Guangdong, China.
  • Peng R; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Hou W; National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital, Beijing, China.
  • Liu Y; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Li J; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Yu Y; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Zhang N; Nextomics Biosciences Institute, Wuhan, Hubei, China.
  • Shang J; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Liang F; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Wang D; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Chen H; Nextomics Biosciences Institute, Wuhan, Hubei, China.
  • Sun L; Nextomics Biosciences Institute, Wuhan, Hubei, China.
  • Hao L; OrigiMed Co., Ltd, Shanghai, China.
  • Scherer A; Genome Wisdom Inc, Beijing, China.
  • Xiao W; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Xu J; EATRIS ERIC-European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.
  • Tong W; EATRIS ERIC-European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.
  • Hu X; Department of Medical Sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Jia P; Office of Oncologic Diseases, Office of New Drugs, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, USA.
  • Ye K; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, USA.
  • Li J; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, USA.
  • Jin L; Shanghai Cancer Center, Fudan University, Shanghai, China.
  • Hong H; School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
  • Wang J; School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
  • Fan S; National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital, Beijing, China.
  • Fang X; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
  • Zheng Y; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, USA.
  • Shi L; National Institute of Metrology, Beijing, China. wj@nim.ac.cn.
Genome Biol ; 24(1): 270, 2023 Nov 27.
Article em En | MEDLINE | ID: mdl-38012772
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Benchmarking Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Benchmarking Idioma: En Ano de publicação: 2023 Tipo de documento: Article