Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines

Berger, S. M., Appelbaum, P. S., Siegel, K., Wynn, J., Saami, A. M., Brokamp, E., O’Connor, B. C., Hamid, R., Martin, D. M., & Chung, W. K. (2022). Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines. Genetics in Medicine, 24(9), 1878–1887. https://doi.org/10.1016/j.gim.2022.06.002
Authors:
Sara M Berger
Paul S Appelbaum
Karolynn Siegel
Julia Wynn
Akilan M Saami
Elly Brokamp
Bridget C O'Connor
Rizwan Hamid
Donna M Martin
Wendy K Chung
Affiliated Authors:
Sara M Berger
Paul S Appelbaum
Karolynn Siegel
Julia Wynn
Akilan M Saami
Wendy K Chung
Columbia Affiliation:
Subjects:
Ethical Considerations in Medical Research Participation (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Analysis of Ancient DNA (OpenAlex Topic)
Counselors (MeSH)
Genetic Testing (MeSH)
Author Keywords:
genetic testing
liability
variant reclassification
variant reinterpretation
variant of uncertain significance
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Publication Type:
Article
Unique ID:
10.1016/j.gim.2022.06.002
PMID:
35767006
DOI:
10.1016/j.gim.2022.06.002
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: