The Challenge of Genetic Variants of Uncertain Clinical Significance-Reference-Cited by-同舟云学术

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The Challenge of Genetic Variants of Uncertain Clinical Significance

Published:2022-07 Issue:7 Volume:175 Page:994-1000
ISSN:0003-4819
Container-title:Annals of Internal Medicine
language:en
Short-container-title:Ann Intern Med

Author:

Burke Wylie¹^ORCID,Parens Erik²,Chung Wendy K.³,Berger Sara M.⁴^ORCID,Appelbaum Paul S.⁵^ORCID

Affiliation:

1. Department of Bioethics and Humanities, University of Washington, Seattle, Washington (W.B.)

2. The Hastings Center, Garrison, New York (E.P.)

3. Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York (W.K.C.)

4. Department of Pediatrics, Columbia University Irving Medical Center, New York, New York (S.M.B.)

5. Department of Psychiatry, Columbia University Irving Medical Center, New York, New York (P.S.A.).

Publisher

American College of Physicians

Subject

General Medicine,Internal Medicine

Reference62 articles.

1. The Role of Genetic Testing in Patients With Breast Cancer

2. Lynch Syndrome–Associated Colorectal Cancer

3. Genomics of Cardiovascular Disease

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. Different Interpretations of the Same Genetic Data

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2. Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification;Human Genetics;2024-08

3. Variants of uncertain significance in precision oncology: nuance or nuisance?;The Oncologist;2024-06-07

4. Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis;2024-06-04

5. Variant classification changes over time in the clinical molecular diagnostic laboratory setting;Journal of Medical Genetics;2024-05-28

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