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Comment
. 2022 May 17;327(19):1926-1927.
doi: 10.1001/jama.2022.4631.

Penetrance of Deleterious Clinical Variants

Lisa Bastarache  1 , Josh F Peterson  1
Affiliations
Comment

Penetrance of Deleterious Clinical Variants

Lisa Bastarache et al. JAMA. .
No abstract available

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Conflict of interest statement

Conflict of Interest Disclosures: Dr Bastarache reported receiving personal fees from Galatea Bio Inc and having a patent for Nashville Biosciences with royalties paid. No other disclosures were reported.

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References

    1. Forrest IS, Chaudhary K, Vy HMT, et al. Population-based penetrance of deleterious clinical variants. JAMA. 2022;327(4):350–359. doi:10.1001/jama.2021.23686 - DOI - PMC - PubMed
    1. Nakanishi T, Forgetta V, Handa T, et al. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. Eur Respir J. 2020;56 (6):2001441. doi:10.1183/13993003.01441-2020 - DOI - PMC - PubMed
    1. Bastarache L, Hughey JJ, Goldstein JA, et al. Improving the phenotype risk score as a scalable approach to identifying patients with mendelian disease. J Am Med Inform Assoc. 2019;26(12):1437–1447. doi:10.1093/jamia/ocz179 - DOI - PMC - PubMed