Extensive sequencing of seven human genomes to characterize benchmark reference materials.

Autor: Zook JM; National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Catoe D; National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., McDaniel J; National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Vang L; National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Spies N; National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.; Stanford University, Stanford, California 94305, USA., Sidow A; Stanford University, Stanford, California 94305, USA., Weng Z; Stanford University, Stanford, California 94305, USA., Liu Y; Stanford University, Stanford, California 94305, USA., Mason CE; Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA., Alexander N; Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA., Henaff E; Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA., McIntyre AB; Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA., Chandramohan D; Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA., Chen F; Illumina Mission Bay, San Francisco, California 94158, USA., Jaeger E; Illumina Mission Bay, San Francisco, California 94158, USA., Moshrefi A; Illumina Mission Bay, San Francisco, California 94158, USA., Pham K; BioNano Genomics, San Diego, California 92121, USA., Stedman W; BioNano Genomics, San Diego, California 92121, USA., Liang T; BioNano Genomics, San Diego, California 92121, USA., Saghbini M; BioNano Genomics, San Diego, California 92121, USA., Dzakula Z; BioNano Genomics, San Diego, California 92121, USA., Hastie A; BioNano Genomics, San Diego, California 92121, USA., Cao H; BioNano Genomics, San Diego, California 92121, USA., Deikus G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Schadt E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Sebra R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Bashir A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Truty RM; Complete Genomics Inc., Mountain View, California 94043, USA., Chang CC; Complete Genomics Inc., Mountain View, California 94043, USA., Gulbahce N; Complete Genomics Inc., Mountain View, California 94043, USA., Zhao K; Thermo Fisher Scientific, South San Francisco, California 94080, USA., Ghosh S; Thermo Fisher Scientific, South San Francisco, California 94080, USA., Hyland F; Thermo Fisher Scientific, South San Francisco, California 94080, USA., Fu Y; Thermo Fisher Scientific, South San Francisco, California 94080, USA., Chaisson M; Genome Sciences, University of Washington, Seattle, Washington 98105, USA., Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, Maryland 20892, USA., Trow J; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, Maryland 20892, USA., Sherry ST; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, Maryland 20892, USA., Zaranek AW; PersonalGenomes.org, Boston, Massachusetts 02115, USA., Ball M; PersonalGenomes.org, Boston, Massachusetts 02115, USA., Bobe J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; PersonalGenomes.org, Boston, Massachusetts 02115, USA., Estep P; PersonalGenomes.org, Boston, Massachusetts 02115, USA.; Harvard Medical School, Boston, Massachusetts 02115, USA., Church GM; PersonalGenomes.org, Boston, Massachusetts 02115, USA.; Harvard Medical School, Boston, Massachusetts 02115, USA., Marks P; 10X Genomics, Pleasanton, California 94566, USA., Kyriazopoulou-Panagiotopoulou S; 10X Genomics, Pleasanton, California 94566, USA., Zheng GX; 10X Genomics, Pleasanton, California 94566, USA., Schnall-Levin M; 10X Genomics, Pleasanton, California 94566, USA., Ordonez HS; 10X Genomics, Pleasanton, California 94566, USA., Mudivarti PA; 10X Genomics, Pleasanton, California 94566, USA., Giorda K; 10X Genomics, Pleasanton, California 94566, USA., Sheng Y; Department of Medical Genetics, Oslo University Hospital, Kirkeveien 166, Bygg 25, Oslo 0450, Norway., Rypdal KB; Department of Medical Genetics, Oslo University Hospital, Kirkeveien 166, Bygg 25, Oslo 0450, Norway., Salit M; National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.; Stanford University, Stanford, California 94305, USA.
Jazyk: angličtina
Zdroj: Scientific data [Sci Data] 2016 Jun 07; Vol. 3, pp. 160025. Date of Electronic Publication: 2016 Jun 07.
DOI: 10.1038/sdata.2016.25
Abstrakt: The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human genome sequencing, as well as methods for genome comparison and benchmarking. Here, we describe a large, diverse set of sequencing data for seven human genomes; five are current or candidate NIST Reference Materials. The pilot genome, NA12878, has been released as NIST RM 8398. We also describe data from two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry. The data come from 12 technologies: BioNano Genomics, Complete Genomics paired-end and LFR, Ion Proton exome, Oxford Nanopore, Pacific Biosciences, SOLiD, 10X Genomics GemCode WGS, and Illumina exome and WGS paired-end, mate-pair, and synthetic long reads. Cell lines, DNA, and data from these individuals are publicly available. Therefore, we expect these data to be useful for revealing novel information about the human genome and improving sequencing technologies, SNP, indel, and structural variant calling, and de novo assembly.
Databáze: MEDLINE