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Article

DiscoVari: A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes.

Circulation. Genomic and precision medicine - 1 Aug 2023

Kurzlechner Leonie M, Kishnani Sujata, Chowdhury Shawon, Atkins Sage L, Moya-Mendez Mary E, Parker Lauren E, Rosamilia Michael B, Tadros Hanna J, Pace Leslie A, Patel Viraj, Chahal C Anwar A, Landstrom Andrew P

Abstract excerpt

BACKGROUND: With genetic testing advancements, the burden of incidentally identified cardiac disease-associated gene variants is rising. These variants may carry a risk of sudden cardiac death, highlighting the need for accurate diagnostic interpretation. We sought to identify pathogenic hotspots in sudden cardiac death-associated genes using amino acid-level signal-to-noise (S:N) analysis and develop a web-based...

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Identifiers

PMID: 37409478
DOI: 10.1161/CIRCGEN.122.003911
PMCID: PMC10527712

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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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