Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records-Reference-Cited by-同舟云学术

Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records

Published:2021-12 Issue:12 Volume:23 Page:2300-2308
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Schiabor Barrett Kelly M.^ORCID,Bolze Alexandre,Ni Yunyun,White Simon,Isaksson Magnus,Sharma Lavania,Levin Elissa,Lee William,Grzymski Joseph J.,Lu James T.,Washington Nicole L.,Cirulli Elizabeth T.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-021-01293-9.pdf

Reference40 articles.

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2. Murray MF et al. DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:989–995 https://doi.org/10.1038/s41436-020-01082-w.

3. Miller DT, et al. ACMG SF v3.0 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). Genet Med. 2021. https://doi.org/10.1038/s41436-021-01172-3.

4. Clinical outcomes of a genomic screening program for actionable genetic conditions;Buchanan,2020

5. Association of rare pathogenic DNA variants for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome with disease risk in adults according to family history;Patel,2020

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