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Article

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

American journal of human genetics - 11 Jul 2024

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

Abstract excerpt

To date, clinical genetic testing for Mendelian disease variants has focused heavily on exonic coding and intronic gene regions. This multi-step study was undertaken to provide an evidence base for selecting and applying computational approaches for use in clinical classification of 5' cis-regulatory region variants. Curated datasets of clinically reported disease-causing 5' cis-regulatory region variants and...

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Identifiers

PMID: 38815586
DOI: 10.1016/j.ajhg.2024.05.002
PMCID: PMC11267523

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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