Penetrance of Deleterious Clinical Variants-Reply

Iain S. Forrest; Girish N. Nadkarni; Ron Do

doi:10.1001/jama.2022.4634

Penetrance of Deleterious Clinical Variants-Reply

Iain S. Forrest
, Girish N. Nadkarni
, Ron Do

The Charles Bronfman Institute for Personalized Medicine

Research output: Contribution to journal › Letter › peer-review

1 Scopus citations

Original language	English
Pages (from-to)	1927
Number of pages	1
Journal	JAMA - Journal of the American Medical Association
Volume	327
Issue number	19
DOIs	https://doi.org/10.1001/jama.2022.4634
State	Published - 17 May 2022

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10.1001/jama.2022.4634

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@article{30e92bff4a5040f19a650ff53390cc4e,

title = "Penetrance of Deleterious Clinical Variants-Reply",

author = "Forrest, \{Iain S.\} and Nadkarni, \{Girish N.\} and Ron Do",

note = "Funding Information: Corresponding Author: Ron Do, PhD, Annenberg Bldg, Floor 18, Room 80A, 1468 Madison Ave, New York, NY 10029 ([email protected]). Conflict of Interest Disclosures: Mr Forrest reported receiving grants from the National Institute of General Medical Sciences. Dr Do reported receiving personal fees from Variant Bio, grants and nonfinancial support from Goldfinch Bio, and grants from AstraZeneca and having pending equity from Pensieve Health and being a consultant for and scientific cofounder of Pensieve Health. No other disclosures were reported. 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 2. 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 3. Silverman EK, Pierce JA, Province MA, Rao DC, Campbell EJ. Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates. Ann Intern Med. 1989;111(12):982-991. doi:10.7326/0003-4819-111-12-982 4. Wright CF, West B, Tuke M, et al. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting. Am J Hum Genet. 2019;104(2):275-286. doi:10.1016/j.ajhg.2018.12.015 5. 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 6. Sudlow C, Gallacher J, Allen N, et al. UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 2015;12(3):e1001779. doi:10.1371/journal.pmed.1001779",

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T1 - Penetrance of Deleterious Clinical Variants-Reply

AU - Forrest, Iain S.

AU - Nadkarni, Girish N.

AU - Do, Ron

N1 - Funding Information: Corresponding Author: Ron Do, PhD, Annenberg Bldg, Floor 18, Room 80A, 1468 Madison Ave, New York, NY 10029 ([email protected]). Conflict of Interest Disclosures: Mr Forrest reported receiving grants from the National Institute of General Medical Sciences. Dr Do reported receiving personal fees from Variant Bio, grants and nonfinancial support from Goldfinch Bio, and grants from AstraZeneca and having pending equity from Pensieve Health and being a consultant for and scientific cofounder of Pensieve Health. No other disclosures were reported. 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 2. 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 3. Silverman EK, Pierce JA, Province MA, Rao DC, Campbell EJ. Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates. Ann Intern Med. 1989;111(12):982-991. doi:10.7326/0003-4819-111-12-982 4. Wright CF, West B, Tuke M, et al. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting. Am J Hum Genet. 2019;104(2):275-286. doi:10.1016/j.ajhg.2018.12.015 5. 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 6. Sudlow C, Gallacher J, Allen N, et al. UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 2015;12(3):e1001779. doi:10.1371/journal.pmed.1001779

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