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A complete reference genome improves analysis of human genetic variation.
Aganezov, Sergey; Yan, Stephanie M; Soto, Daniela C; Kirsche, Melanie; Zarate, Samantha; Avdeyev, Pavel; Taylor, Dylan J; Shafin, Kishwar; Shumate, Alaina; Xiao, Chunlin; Wagner, Justin; McDaniel, Jennifer; Olson, Nathan D; Sauria, Michael E G; Vollger, Mitchell R; Rhie, Arang; Meredith, Melissa; Martin, Skylar; Lee, Joyce; Koren, Sergey; Rosenfeld, Jeffrey A; Paten, Benedict; Layer, Ryan; Chin, Chen-Shan; Sedlazeck, Fritz J; Hansen, Nancy F; Miller, Danny E; Phillippy, Adam M; Miga, Karen H; McCoy, Rajiv C; Dennis, Megan Y; Zook, Justin M; Schatz, Michael C.
Afiliação
  • Aganezov S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Yan SM; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
  • Soto DC; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA.
  • Kirsche M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Avdeyev P; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.
  • Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
  • Shafin K; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.
  • Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Xiao C; National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.
  • Wagner J; National Institute of Standards and Technology, Gaithersburg, MD, USA.
  • McDaniel J; National Institute of Standards and Technology, Gaithersburg, MD, USA.
  • Olson ND; National Institute of Standards and Technology, Gaithersburg, MD, USA.
  • Sauria MEG; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
  • Vollger MR; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Rhie A; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.
  • Meredith M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.
  • Martin S; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA.
  • Lee J; Bionano Genomics, San Diego, CA, USA.
  • Koren S; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.
  • Rosenfeld JA; Cancer Institute of New Jersey, New Brunswick, NJ, USA.
  • Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.
  • Layer R; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA.
  • Chin CS; DNAnexus, Mountain View, CA, USA.
  • Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Hansen NF; Comparative Genomics Analysis Unit, National Human Genome Research Institute, Rockville, MD, USA.
  • Miller DE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Phillippy AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
  • Miga KH; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.
  • McCoy RC; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.
  • Dennis MY; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
  • Zook JM; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA.
  • Schatz MC; National Institute of Standards and Technology, Gaithersburg, MD, USA.
Science ; 376(6588): eabl3533, 2022 04.
Article em En | MEDLINE | ID: mdl-35357935

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Genoma Humano / Análise de Sequência de DNA / Genômica Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Science Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Genoma Humano / Análise de Sequência de DNA / Genômica Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Science Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos