Structural variation across 138,134 samples in the TOPMed consortium.

Autor: Jun G; Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston., English AC; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Metcalf GA; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Yang J; University of Southern California, Los Angeles, CA, USA., Chaisson MJ; University of Southern California, Los Angeles, CA, USA., Pankratz N; University of Minnesota, Minneapolis, MN, USA., Menon VK; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Salerno WJ; Regeneron Genetics Center., Krasheninina O; Regeneron Genetics Center., Smith AV; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI., Lane JA; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI., Blackwell T; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI., Kang HM; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI., Salvi S; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Meng Q; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Shen H; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Pasham D; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Bhamidipati S; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Kottapalli K; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Arnett DK; Department of Epidemiology, University of Kentucky College of Public Health., Ashley-Koch A; Department of Medicine, Duke University Medical Center, Durham, NC.; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC., Auer PL; Division of Biostatistics and Cancer Center, Medical College of Wisconsin, Milwaukee WI., Beutel KM; University of Minnesota, Minneapolis, MN, USA., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas, Rio Grande Valley School of Medicine, Brownsville, TX., Bowden DW; Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Brody JA; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Cade BE; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA., Chen YI; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center.; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA USA., Cho MH; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA., Curran JE; Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Fornage M; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX., Freedman BI; Department of Internal Medicine, Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA., Fingerlin T; Center for Genes, Environment and Health, National Jewish Health, 1400 Jackson St., Denver, CO, 80206, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai., Hou L; Northwestern University, Chicago, IL., Hung YJ; Institute of Preventive Medicine, National Defense Medical Center, Taiwan., Kane JP; Cardiovascular Research Institute, University of California, San Francisco., Kaplan R; Department of epidemiology and population health, Albert Einstein College of Medicine, Bronx NY USA., Kim W; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY., Marcus GM; Division of Cardiology, University of California, San Francisco CA., Mathias RA; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., McGarvey ST; Department of Epidemiology, International Health Institute and Department of Anthropology, Brown University., Montgomery C; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation., Naseri T; Ministry of Health, Government of Samoa, Apia, Samoa., Nouraie SM; Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213., Preuss MH; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY., Palmer ND; Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI USA., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill., Ratan A; Center for Public Health Genomics, University of Virginia, Charlottesville, VA USA., Redline S; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA., Reupena S; Lutia i Puava ae Mapu i Fagalele, Apia, Samoa 663030., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA USA.; Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rich SS; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI USA., Rienstra M; Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Ruczinski I; Department of Biostatistics, Johns Hopkins University Bloomberg, School of Public Health, Baltimore, MD, USA., Sankaran VG; Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115.; Broad Institute of MIT and Harvard, Cambridge, MA 02142., Schwartz DA; University of Colorado Department of Medicine., Seidman CE; Department of Genetics, Harvard Medical School.; Cardiovascular Division, Brigham & Women's Hospital, Harvard University.; Howard Hughes Medical Institute, Harvard University., Seidman JG; Department of Genetics, Harvard Medical School., Silverman EK; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA., Smith JA; Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213., Stilp A; Department of Biostatistics, University of Washington, Seattle, WA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA USA.; Center for Public Health Genomics, University of Virginia, Charlottesville, VA USA., Telen MJ; Department of Medicine, Duke University Medical Center, Durham, NC., Weiss ST; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Williams LK; Center for Individualized and Genomic Medicine Research (CIGMA), Department of Internal Medicine, Henry Ford Health System, Detroit, Michigan, United States of America., Wu B; Center for Individualized and Genomic Medicine Research (CIGMA), Department of Internal Medicine, Henry Ford Health System, Detroit, Michigan, United States of America., Yanek LR; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY., Zhang Y; Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213., Lasky-Su J; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Gingras MC; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Dutcher SK; Department of Genetics, Washington University School of Medicine, Saint Louis, MO 63110, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA., Gabriel S; Broad Institute of MIT and Harvard, Cambridge, MA 02142., Germer S; New York Genome Center, New York, NY, USA., Kim R; Psomagen, Inc.,Rockville, Maryland, USA., Viaud-Martinez KA; Illumina Laboratory Services, Illumina, Inc., San Diego., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195., Luo J; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Reiner A; Department of Epidemiology, University of Washington, Seattle, WA 98109, USA., Gibbs RA; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Boerwinkle E; Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston.; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA., Abecasis G; Regeneron Genetics Center.; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI., Sedlazeck FJ; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA.; Department of Computer Science, Rice University, 6100 Main Street, Houston, TX, 77005, USA.

Publikováno v: Research square [Res Sq] 2023 Feb 03. Date of Electronic Publication: 2023 Feb 03.

Deleterious mitochondrial DNA point mutations are overrepresented in Drosophila expressing a proofreading-defective DNA polymerase γ.

Autor: Samstag CL; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, United States of America.; Department of Genome Sciences, University of Washington, Seattle, WA, United States of America., Hoekstra JG; Department of Pathology, University of Washington, Seattle, WA, United States of America., Huang CH; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States of America., Chaisson MJ; Computational Biology and Bioinformatics, University of Southern California, Los Angeles, CA, United States of America., Youle RJ; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States of America., Kennedy SR; Department of Pathology, University of Washington, Seattle, WA, United States of America., Pallanck LJ; Department of Genome Sciences, University of Washington, Seattle, WA, United States of America.

Publikováno v: PLoS genetics [PLoS Genet] 2018 Nov 19; Vol. 14 (11), pp. e1007805. Date of Electronic Publication: 2018 Nov 19 (Print Publication: 2018).

Long-read sequence assembly of the gorilla genome.

Autor: Gordon D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Huddleston J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Chaisson MJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Hill CM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Kronenberg ZN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Malig M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Raja A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Fiddes I; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA., Hillier LW; McDonnell Genome Institute, Department of Medicine, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA., Dunn C; Pacific Biosciences of California, Menlo Park, CA 94025, USA., Baker C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Armstrong J; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA., Diekhans M; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA., Paten B; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA., Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Wilson RK; McDonnell Genome Institute, Department of Medicine, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA., Haussler D; Genomics Institute, University of California Santa Cruz and Howard Hughes Medical Institute, Santa Cruz, CA 95064, USA., Chin CS; Pacific Biosciences of California, Menlo Park, CA 94025, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. eee@gs.washington.edu.

Publikováno v: Science (New York, N.Y.) [Science] 2016 Apr 01; Vol. 352 (6281), pp. aae0344.

Resolving the complexity of the human genome using single-molecule sequencing.

Autor: Chaisson MJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Huddleston J; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA., Dennis MY; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Sudmant PH; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Malig M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Hormozdiari F; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Antonacci F; Dipartimento di Biologia, Università degli Studi di Bari 'Aldo Moro', Bari 70125, Italy., Surti U; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA., Sandstrom R; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Boitano M; Pacific Biosciences of California, Inc., Menlo Park, California 94025, USA., Landolin JM; Pacific Biosciences of California, Inc., Menlo Park, California 94025, USA., Stamatoyannopoulos JA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Hunkapiller MW; Pacific Biosciences of California, Inc., Menlo Park, California 94025, USA., Korlach J; Pacific Biosciences of California, Inc., Menlo Park, California 94025, USA., Eichler EE; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.

Publikováno v: Nature [Nature] 2015 Jan 29; Vol. 517 (7536), pp. 608-11. Date of Electronic Publication: 2014 Nov 10.

De novo fragment assembly with short mate-paired reads: Does the read length matter?

Autor: Chaisson MJ; Bioinformatics Program, University of California San Diego, La Jolla, California 92093, USA. mchaisso@bioinf.ucsd.edu, Brinza D, Pevzner PA

Publikováno v: Genome research [Genome Res] 2009 Feb; Vol. 19 (2), pp. 336-46. Date of Electronic Publication: 2008 Dec 03.