Population-Based Penetrance of Deleterious Clinical Variants-Reference-Cited by-同舟云学术

Population-Based Penetrance of Deleterious Clinical Variants

Published:2022-01-25 Issue:4 Volume:327 Page:350
ISSN:0098-7484
Container-title:JAMA
language:en
Short-container-title:JAMA

Author:

Forrest Iain S.¹²³⁴,Chaudhary Kumardeep¹³⁴⁵,Vy Ha My T.¹⁴,Petrazzini Ben O.¹⁴,Bafna Shantanu¹⁴,Jordan Daniel M.¹⁴,Rocheleau Ghislain¹⁴,Loos Ruth J. F.¹⁴⁶,Nadkarni Girish N.¹³⁵⁷,Cho Judy H.¹³⁴⁷,Do Ron¹³⁴

Affiliation:

1. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York

2. Medical Scientist Training Program, Icahn School of Medicine at Mount Sinai, New York, New York

3. The BioMe Phenomics Center, Icahn School of Medicine at Mount Sinai, New York, New York

4. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York

5. The Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, New York

6. The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York

7. Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York

Publisher

American Medical Association (AMA)

Subject

General Medicine

Link

https://jamanetwork.com/journals/jama/articlepdf/2788347/jama_forrest_2022_oi_210144_1643049438.93955.pdf

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4. Identification of misclassified ClinVar variants via disease population prevalence.;Shah;Am J Hum Genet,2018

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