Related Experiment Video

Updated: Jul 13, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients

Aishwarya Rajesh Krishnan1, Marci Lb Schwartz1,2, Cherith Somerville1,2

  • 1Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.

Future Cardiology
|October 13, 2023
PubMed

Keywords:
MYH6TPCN1arrhythmiacardiomyopathygene curationgene-disease validitywhole genome sequencing

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