Modeling the impact of data sharing on variant classification

Autor: Shirts Bh, Melissa S. Cline, Casaletto J

ObjectiveMany genetic variants are classified, but many more are designated as variants of uncertain significance (VUS). Patient data may provide sufficient evidence to classify VUS. Understanding how long it would take to accumulate sufficient patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::57e4253cbde36d6b50629a78df439db1
https://doi.org/10.1101/2021.06.21.449318

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Primary care provider practices, attitudes, and confidence with hereditary cancer risk assessment and testing: A mixed methods study.

Autor: Conner S; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA. Electronic address: slewan@uw.edu., Theoryn T; Institute for Public Health Genetics, School of Public Health, University of Washington, Seattle, WA; Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA., Dusic E; Institute for Public Health Genetics, School of Public Health, University of Washington, Seattle, WA; Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA., Beers F; Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA., Knerr S; Department of Health Systems and Population Health, School of Public Health, University of Washington, Seattle, WA., Norquist B; Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, School of Medicine, University of Washington, Seattle, WA., Shirts BH; Institute for Public Health Genetics, School of Public Health, University of Washington, Seattle, WA; Department of Laboratory Medicine and Pathology, School of Medicine, University of Washington, Seattle, WA., Bowen D; Institute for Public Health Genetics, School of Public Health, University of Washington, Seattle, WA; Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA., Swisher EM; Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, School of Medicine, University of Washington, Seattle, WA., Wang C; Department of Community Health Sciences, School of Public Health, Boston University, Boston, MA.

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Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect.

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