Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure
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Published:2024-03
Issue:3
Volume:26
Page:101051
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Nolan Joshua, Buchanan James, Taylor John, Almeida Joao, Bedenham Tina, Blair Edward, Broadgate Suzanne, Butler Samantha, Cazeaux Angela, Craft Judith, Cranston Treena, Crawford Gillian, Forrest Jamie, Gabriel Jessica, George Elaine, Gillen Donna, Haeger Ash, Hastings Ward Jillian, Hawkes Lara, Hodgkiss Claire, Hoffman Jonathan, Jones Alan, Karpe Fredrik, Kasperaviciute Dalia, Kovacs Erika, Leigh Sarah, Limb Elizabeth, Lloyd-Jani Anjali, Lopez Javier, Lucassen Anneke, McFarlane Carlos, O’Rourke Anthony W., Pond Emily, Sherman Catherine, Stewart Helen, Thomas Ellen, Thomas Simon, Thomas Tessy, Thomson Kate, Wakelin Hannah, Walker Susan, Watson Melanie, Williams Eleanor, Ormondroyd ElizabethORCID
Funder
Wellcome Trust NIHR Oxford Biomedical Research Centre
Subject
Genetics (clinical)
Reference48 articles.
1. 100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care–Preliminary Report;N Engl J Med,2021 2. Clinical cancer genomic profiling;Chakravarty;Nat Rev Genet,2021 3. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing;Green;Genet Med,2013 4. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG);Miller;Genet Med,2022 5. Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics;van El;Eur J Hum Genet,2013
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