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A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.

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第一作者： Camille A,Daniels

第一单位： Medical Device Innovation Consortium (MDIC), 1655 N Ft. Myer Drive, 12th Floor, Arlington, VA, USA 22209.

作者： Camille A,Daniels ^[1] ; Adetola,Abdulkadir ^[1] ; Megan H,Cleveland ^[2] ; Jennifer H,McDaniel ^[2] ; David,Jáspez ^[3] ; Luis Alberto,Rubio-Rodríguez ^[3] ; Adrián,Muñoz-Barrera ^[3] ; José Miguel,Lorenzo-Salazar ^[3] ; Carlos,Flores ^[4] ; Byunggil,Yoo ^[5] ; Sayed Mohammad Ebrahim,Sahraeian ^[6] ; Yina,Wang ^[7] ; Massimiliano,Rossi ^[7] ; Arun,Visvanath ^[7] ; Lisa,Murray ^[7] ; Wei-Ting,Chen ^[7] ; Severine,Catreux ^[7] ; James,Han ^[7] ; Rami,Mehio ^[7] ; Gavin,Parnaby ^[7] ; Andrew,Carroll ^[8] ; Pi-Chuan,Chang ^[8] ; Kishwar,Shafin ^[8] ; Daniel,Cook ^[8] ; Alexey,Kolesnikov ^[8] ; Lucas,Brambrink ^[8] ; Mohammed Faizal Eeman,Mootor ^[9] ; Yash,Patel ^[9] ; Takafumi N,Yamaguchi ^[9] ; Paul C,Boutros ^[9] ; Karolina,Sienkiewicz ^[10] ; Jonathan,Foox ^[10] ; Christopher E,Mason ^[10] ; Bryan R,Lajoie ^[11] ; Carlos A,Ruiz-Perez ^[11] ; Semyon,Kruglyak ^[11] ; Justin M,Zook ^[2] ; Nathan D,Olson ^[2]

作者单位： Medical Device Innovation Consortium (MDIC), 1655 N Ft. Myer Drive, 12th Floor, Arlington, VA, USA 22209. ^[1] Material Measurement Laboratory, National Institute of Standards and Technology (NIST), 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA. ^[2] Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Polígono Industrial de Granadilla s/n, 38600 Santa Cruz de Tenerife, Spain. ^[3] Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Polígono Industrial de Granadilla s/n, 38600 Santa Cruz de Tenerife, Spain.;Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Instituto de Investigación Sanitaria de Canarias, Carretera del Rosario 145, 38010, Santa Cruz de Tenerife, Spain.;CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Monforte de Lemos 3-5, Pabellón 11, 28029 Madrid, Spain.;Facultad de Ciencias de la Salud, Universidad Fernando de Pessoa Canarias, Calle de la Juventud s/n, 35450, Las Palmas de Gran Canaria, Spain. ^[4] Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA. ^[5] Roche Sequencing Solutions, Santa Clara, CA, 95050, USA. ^[6] Illumina Inc., San Diego, CA, USA. ^[7] Google Inc, Mountain View, CA, USA. ^[8] Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA. ^[9] Department of Medicine and Weill Cornell Cancer Center, Weill Cornell Medicine, New York, NY, USA. ^[10] Element Biosciences, San Diego, CA, USA. ^[11]

关键词 SNV Somatic mosaicism benchmarking genome in a bottle genome sequencing mosaic variant somatic variant variant calling

DOI 10.1101/2024.12.02.625685

PMID 39677813

发布时间 2025-08-10

基金项目

U2C CA271894/CA/NCI NIH HHS/United States U54 AG089334/AG/NIA NIH HHS/United States U24 CA248265/CA/NCI NIH HHS/United States U54 HG012517/HG/NHGRI NIH HHS/United States R01 ES032638/ES/NIEHS NIH HHS/United States P30 CA016042/CA/NCI NIH HHS/United States

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A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.

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A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.

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