Article

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

2025-05-27

Abstract excerpt

<h4>Background</h4> An estimated 1 in 500 people live with hypertrophic cardiomyopathy (HCM), a disease for which genetic diagnosis can identify family members at risk, and increasingly guide therapy. Mutations in the myosin binding protein C3 ( MYBPC3 ) gene account for a significant proportion of HCM cases. However, many of these variants are classified as variants of uncertain significance (VUS), complicating...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5fa8539e-d5bb-55ce-8fe3-2eff7ab7fcfb
DOI: 10.1101/2025.05.23.655878

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathyDOI 10.1101/2025.05.23.655878Read

Protein haploinsufficiency drivers identifyMYBPC3mutations that cause hypertrophic cardiomyopathySemantic proximity Read

Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contextsSemantic proximity Read

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.Semantic proximity Read

Multiplexed functional assessments of MYH7 variants in human cardiomyocytes at scaleSemantic proximity Read

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobankSemantic proximity Read

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.Semantic proximity Read

Hypertrophic cardiomyopathy in MYBPC3 carriers in agingSemantic proximity Read

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.Semantic proximity Read

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.Semantic proximity Read

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.Semantic proximity Read

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic CardiomyopathySemantic proximity Read

Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3Semantic proximity Read