Deep generative models of LDLR protein structure to predict variant pathogenicity-Reference-Cited by-同舟云学术

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Deep generative models of LDLR protein structure to predict variant pathogenicity

Published:2023-12 Issue:12 Volume:64 Page:100455
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

James Jose K.^ORCID,Norland Kristjan,Johar Angad S.^ORCID,Kullo Iftikhar J.^ORCID

Funder

National Heart Lung and Blood Institute

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference64 articles.

1. Genetic basis of hypercholesterolemia in adults;Saadatagah;NPJ Genom. Med.,2021

2. Genetic identification of familial hypercholesterolemia within a single U.S. health care system;Abul-Husn;Science,2016

3. The clinical genome resource (ClinGen) familial hypercholesterolemia variant curation expert Panel consensus guidelines for LDLR variant classification;Chora;Genet. Med.,2022

4. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG);Miller;Genet. Med.,2021

5. Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals;Safarova;Eur. J. Hum. Genet.,2017

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