Article

The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort

2025-02-07

Abstract excerpt

<h4>Objective</h4> This study aims to describe the genetic landscape of syndromic and non-syndromic hearing loss (HL) in the UK population using data from the 100,000 Genomes Project (100kGP). <h4>Design</h4> Cohort study <h4>Setting</h4> NHS England <h4>Participants</h4> 2,271 families with syndromic and non-syndromic HL recruited to the 100kGP rare disease programme between 2013 and 2018. Participants with at le...

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Literature Corpus work: 7e9b66db-3b17-5b95-bb34-11cbbbd914c3
DOI: 10.1101/2025.02.06.25321804

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