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Updated: Dec 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease

Roddy Walsh1,2, Najim Lahrouchi3,4, Rafik Tadros5

  • 1Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands. r.t.walsh@amsterdamumc.nl.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 7, 2020
PubMed
Abstract

Keywords:
ACMG/AMP guidelinesBrugadaLQTSvariant interpretation

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