PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Autorzy:
Wohler E; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Martin R; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Griffith S; Center for Inherited Disease Research - CIDR, Johns Hopkins School of Medicine, Baltimore, MD, USA. Rodrigues EDS; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Antonescu C; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. DohenyKF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Center for Inherited Disease Research - CIDR, Johns Hopkins School of Medicine, Baltimore, MD, USA. Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA. Valle D; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Sobreira N; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Aug 18; Vol. 16 (1), pp. 365. Date of Electronic Publication: 2021 Aug 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
Autorzy:
Crosslin DR; Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, Seattle, 98195 WA USA ; Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, Seattle, 98195 WA USA. Robertson PD; Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, Seattle, 98195 WA USA. Carrell DS; Group Health Research Institute, Group Health Cooperative, 1730 Minor Avenue, Seattle, 98101 WA USA. Gordon AS; Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, Seattle, 98195 WA USA. Hanna DS; Department of Pathology, University of Washington, 1959 NE Pacific Street, Seattle, 98195 WA USA. Burt A; Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, Seattle, 98195 WA USA. Fullerton SM; Department of Bioethics and Humanities, University of Washington, 1959 NE Pacific Street, Seattle, 98195 WA USA. Scrol A; Group Health Research Institute, Group Health Cooperative, 1730 Minor Avenue, Seattle, 98101 WA USA. Ralston J; Department of Pathology, University of Washington, 1959 NE Pacific Street, Seattle, 98195 WA USA. Leppig K; Department of Pathology, University of Washington, 1959 NE Pacific Street, Seattle, 98195 WA USA. Hartzler A; Department of Pathology, University of Washington, 1959 NE Pacific Street, Seattle, 98195 WA USA. Baldwin E; Department of Pathology, University of Washington, 1959 NE Pacific Street, Seattle, 98195 WA USA. Andrade Md; Division of Biomedical Statistics and Informatics, Mayo Clinic, 200 First Street SW, Rochester, 55905 MN USA. Kullo IJ; Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, 55905 MN USA. Tromp G; The Sigfried and Janet Weis Center for Research, Geisinger Health System, 100 North Academy Avenue, Danville, 17882 PA USA. DohenyKF; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, 333 Cassell Drive, Baltimore, 21224 MD USA. Ritchie MD; Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, 512A Wartik Laboratory, University Park, 16802 PA USA ; Biomedical and Translational Informatics, Geisinger Health System, 100 North Academy Avenue, Danville, 17882 PA USA. Crane PK; Division of General Internal Medicine, University of Washington, 325 Ninth Avenue, Seattle, 981014 WA USA. Nickerson DA; Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, Seattle, 98195 WA USA. Larson EB; Group Health Research Institute, Group Health Cooperative, 1730 Minor Avenue, Seattle, 98101 WA USA. Jarvik GP; Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, Seattle, 98195 WA USA ; Department of Genome Sciences, University of Washington, 3720 15th Avenue NE, Seattle, 98195 WA USA.
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Źródło:
Genome medicine [Genome Med] 2015 Jul 03; Vol. 7 (1), pp. 67. Date of Electronic Publication: 2015 Jul 03 (Print Publication: 2015).
Correction: Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.
Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study.
Autorzy:
Johnson EO; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America. Hancock DB; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America. Gaddis NC; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America. Levy JL; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America. Page G; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America. Novak SP; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America. Glasheen C; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America. Saccone NL; Washington University School of Medicine, St. Louis, MO, United States of America. Rice JP; Washington University School of Medicine, St. Louis, MO, United States of America. Moreau MP; Rutgers University Cell and DNA Repository (RUCDR), Piscataway, NJ, United States of America. DohenyKF; Center for Inherited Disease Research (CIDR), Johns Hopkins University, Baltimore, MD, United States of America. Romm JM; Center for Inherited Disease Research (CIDR), Johns Hopkins University, Baltimore, MD, United States of America. Brooks AI; Rutgers University Cell and DNA Repository (RUCDR), Piscataway, NJ, United States of America. Aouizerat BE; School of Nursing, University of California San Francisco, San Francisco, CA, United States of America; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, United States of America. Bierut LJ; Washington University School of Medicine, St. Louis, MO, United States of America. Kral AH; RTI International, Research Triangle Park, NC, Atlanta, GA, San Francisco, CA, United States of America.
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Źródło:
PloS one [PLoS One] 2015 Mar 18; Vol. 10 (3), pp. e0118149. Date of Electronic Publication: 2015 Mar 18 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
Genetic variation in the HLA region is associated with susceptibility to herpes zoster.
Autorzy:
Crosslin DR; 1] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA [2] Department of Genome Sciences, University of Washington, Seattle, WA, USA. Carrell DS; Group Health Research Institute, Group Health Cooperative, Seattle, WA, USA. Burt A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA. Kim DS; 1] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA [2] Department of Genome Sciences, University of Washington, Seattle, WA, USA. Underwood JG; Department of Genome Sciences, University of Washington, Seattle, WA, USA. Hanna DS; Department of Genome Sciences, University of Washington, Seattle, WA, USA. Comstock BA; Department of Biostatistics, University of Washington, Seattle, WA, USA. Baldwin E; Group Health Research Institute, Group Health Cooperative, Seattle, WA, USA. de Andrade M; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA. Kullo IJ; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA. Tromp G; The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA, USA. Kuivaniemi H; The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA, USA. Borthwick KM; The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA, USA. McCarty CA; 1] Essentia Institute of Rural Health, Duluth, MN, USA [2] Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA. Peissig PL; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA. DohenyKF; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Pugh E; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Kho A; Divisions of General Internal Medicine and Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Pacheco J; Divisions of General Internal Medicine and Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Hayes MG; Division of Endocrinology, Metabolism, and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Ritchie MD; Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, Pennsylvania, PA, USA. Verma SS; Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, Pennsylvania, PA, USA. Armstrong G; Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, Pennsylvania, PA, USA. Stallings S; Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA. Denny JC; Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA. Carroll RJ; Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA. Crawford DC; 1] Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA [2] Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA. Crane PK; Division of General Internal Medicine, University of Washington, Seattle, WA, USA. Mukherjee S; Division of General Internal Medicine, University of Washington, Seattle, WA, USA. Bottinger E; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine, New York, NY, USA. Li R; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Keating B; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Mirel DB; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. Carlson CS; Fred Hutchinson Cancer Research Center, Public Health Sciences Division, Seattle, WA, USA. Harley JB; Cincinnati Children's Hospital Medical Center/Boston's Children's Hospital (CCHMC/BCH), Boston, MA, USA. Larson EB; Group Health Research Institute, Group Health Cooperative, Seattle, WA, USA. Jarvik GP; 1] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA [2] Department of Genome Sciences, University of Washington, Seattle, WA, USA.
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Źródło:
Genes and immunity [Genes Immun] 2015 Jan-Feb; Vol. 16 (1), pp. 1-7. Date of Electronic Publication: 2014 Oct 09.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
Autorzy:
Williams SR; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America; Cardiovascular Research Center, University of Virginia, Charlottesville, Virginia, United States of America. Yang Q; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America; The Framingham Heart Study, Framingham, Massachusetts, United States of America. Chen F; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America. Liu X; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America. Keene KL; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America; Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, United States of America; Department of Biology, East Carolina University, Greenville, North Carolina, United States of America; Center for Health Disparities Research, East Carolina University, Greenville, North Carolina, United States of America. Jacques P; Jean Mayer USDA Human Nutrition Research Center on Aging and Friedman School of Nutrition Science and Policy, Tufts University, Boston, Massachusetts, United States of America. Chen WM; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America. Weinstein G; Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America. Hsu FC; Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America. Beiser A; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America; Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America. Wang L; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America. Bookman E; National Human Genome Research Institute, Bethesda, Maryland, United States of America. DohenyKF; Center for Inherited Disease Research, Johns Hopkins University, Baltimore, Maryland, United States of America. Wolf PA; Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America. Zilka M; Center for Inherited Disease Research, Johns Hopkins University, Baltimore, Maryland, United States of America. Selhub J; Jean Mayer USDA Human Nutrition Research Center on Aging and Friedman School of Nutrition Science and Policy, Tufts University, Boston, Massachusetts, United States of America. Nelson S; Department of Biostatistics, University of Washington, Seattle, Washington, United States of America. Gogarten SM; Department of Biostatistics, University of Washington, Seattle, Washington, United States of America. Worrall BB; Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, United States of America; Department of Neurology University of Virginia, Charlottesville, Virginia, United States of America. Seshadri S; Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America. Sale MM; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America; Department of Medicine, University of Virginia, Charlottesville, Virginia, United States of America; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, United States of America.
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