Article

Comprehensive Comparison of a Genotype-Forward vs. Phenotype-Forward Approach for Monogenic Cardiovascular Diseases in the UK Biobank Cohort

2025-09-14

Abstract excerpt

<h4>Background</h4> Monogenic cardiovascular diseases (MCVD) remain substantially under-diagnosed, and thus interest is shifting from a phenotype-forward approach towards a genotype-first strategy that applies to population-wide genomic screening. We evaluated the prevalence of pathogenic and predicted pathogenic MCVD variants and assessed disease expression in the population-based UK Biobank (UKB) cohort to dete...

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Literature Corpus work: ce7572d0-245c-5d19-b9fe-1fde4517a0f7
DOI: 10.1101/2025.09.11.25335614

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