Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease-Reference-Cited by-同舟云学术

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Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease

Published:2024-07 Issue:7 Volume:111 Page:1301-1315
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Villani Rehan M.^ORCID,McKenzie Maddison E.,Davidson Aimee L.,Spurdle Amanda B.^ORCID

Funder

National Health and Medical Research Council

National Institutes of Health

Publisher

Elsevier BV

Reference53 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

2. Recommendations for clinical interpretation of variants found in non-coding regions of the genome;Ellingford;Genome Med.,2022

3. Expanded Insights Into Mechanisms of Gene Expression and Disease Related Disruptions;Smith;Front. Mol. Biosci.,2018

4. Genome-wide analysis of mammalian promoter architecture and evolution;Carninci;Nat. Genet.,2006

5. The downstream core promoter element, DPE, is conserved from Drosophila to humans and is recognized by TAFII60 of Drosophila;Burke;Genes Dev.,1997

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