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Perspectives on the future of dysmorphology.
Solomon, Benjamin D; Adam, Margaret P; Fong, Chin-To; Girisha, Katta M; Hall, Judith G; Hurst, Anna C E; Krawitz, Peter M; Moosa, Shahida; Phadke, Shubha R; Tekendo-Ngongang, Cedrik; Wenger, Tara L.
Afiliação
  • Solomon BD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Adam MP; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Fong CT; Department of Genetics, University of Rochester, Rochester, New York, USA.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Hall JG; University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.
  • Hurst ACE; Department of Pediatrics and Medical Genetics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
  • Krawitz PM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Moosa S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Phadke SR; Division of Molecular Biology and Human Genetics, Stellenbosch University, Stellenbosch, South Africa.
  • Tekendo-Ngongang C; Department of Medical Genetics, Tygerberg Hospital, Tygerberg, South Africa.
  • Wenger TL; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Am J Med Genet A ; 191(3): 659-671, 2023 03.
Article em En | MEDLINE | ID: mdl-36484420
The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have upended the field and offered fascinating new insights. Though difficult to predict the precise paths the field will follow, rapid change may continue to be inevitable. Within genetics, the practice of dysmorphology, as defined by pioneering geneticist David W. Smith in the 1960s as "the study of, or general subject of abnormal development of tissue form" has also been affected by technological advances as well as more general trends in biomedicine. To address possibilities, potential, and perils regarding the future of dysmorphology, a group of clinical geneticists, representing different career stages, areas of focus, and geographic regions, have contributed to this piece by providing insights about how the practice of dysmorphology will develop over the next several decades.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inteligência Artificial / Genômica Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inteligência Artificial / Genômica Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article