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Benchmarking challenging small variants with linked and long reads.

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第一作者: Justin,Wagner
第一单位: Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA.
作者单位: Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA. [1] Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. [2] Seven Bridges, Omladinskih brigada 90g, 11070 Belgrade, Republic of Serbia. [3] Children's Mercy Kansas City, Kansas City, MO, USA. [4] Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA. [5] Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA. [6] New York Genome Center, 101 Avenue of the Americas, New York, NY, USA. [7] University of California at Santa Cruz Genomics Institute, 1156 High Street, Santa Cruz, CA, USA. [8] Department of Computer Science, Stanford University, Stanford, CA 94305, USA. [9] Department of Pathology, Stanford University, Stanford, CA 94305, USA.;Department of Genetics, Stanford University, Stanford, CA 94305, USA. [10] Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA. [11] Institute of Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany. [12] Terry Fox Laboratory, BC Cancer Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. [13] 10X Genomics, Pleasanton, CA 94588, USA. [14] National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA. [15] DNAnexus, Inc., Mountain View, CA 94040, USA. [16] Pacific Biosciences, Menlo Park, CA 94025, USA. [17] Google Inc., 1600 Amphitheatre Pkwy., Mountain View, CA 94040, USA. [18] Joint Initiative for Metrology in Biology, SLAC National Laboratory, Stanford, CA, USA.;Senior author. [19] Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA.;Senior author.;Lead contact. [20]
DOI 10.1016/j.xgen.2022.100128
PMID 36452119
发布时间 2025-05-30
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Cell genomics

Cell genomics

2022年2卷5期

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