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De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler, Michael D; Loesch, Douglas P; Perry, James A; Heard-Costa, Nancy L; Taliun, Daniel; Cade, Brian E; Wang, Heming; Daya, Michelle; Ziniti, John; Datta, Soma; Celedón, Juan C; Soto-Quiros, Manuel E; Avila, Lydiana; Weiss, Scott T; Barnes, Kathleen; Redline, Susan S; Vasan, Ramachandran S; Johnson, Andrew D; Mathias, Rasika A; Hernandez, Ryan; Wilson, James G; Nickerson, Deborah A; Abecasis, Goncalo; Browning, Sharon R; Zöllner, Sebastian; O'Connell, Jeffrey R; Mitchell, Braxton D; O'Connor, Timothy D.
Afiliación
  • Kessler MD; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Loesch DP; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Perry JA; Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Heard-Costa NL; University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer Center, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Taliun D; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Cade BE; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Wang H; Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Daya M; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Ziniti J; Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD 21201.
  • Datta S; Department of Neurology, Boston University School of Medicine, Boston, MA 02118.
  • Celedón JC; Framingham Heart Study, Framingham, MA 01702.
  • Soto-Quiros ME; Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109.
  • Avila L; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115.
  • Weiss ST; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
  • Barnes K; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115.
  • Redline SS; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
  • Vasan RS; Department of Medicine, University of Colorado Denver, Aurora, CO 80045.
  • Johnson AD; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115.
  • Mathias RA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115.
  • Hernandez R; Division of Pediatric Pulmonary Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213.
  • Wilson JG; Department of Pediatrics, Hospital Nacional de Niños, 10103 San José, Costa Rica.
  • Nickerson DA; Department of Pediatrics, Hospital Nacional de Niños, 10103 San José, Costa Rica.
  • Abecasis G; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115.
  • Browning SR; Department of Medicine, Harvard Medical School, Boston, MA 02115.
  • Zöllner S; Department of Medicine, University of Colorado Denver, Aurora, CO 80045.
  • O'Connell JR; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115.
  • Mitchell BD; Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115.
  • O'Connor TD; Framingham Heart Study, Framingham, MA 01702.
Proc Natl Acad Sci U S A ; 117(5): 2560-2569, 2020 02 04.
Article en En | MEDLINE | ID: mdl-31964835
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Genoma Humano / Amish Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Genoma Humano / Amish Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article