Publications by authors named "Bridget M Riley-Gillis"
Background: Limited understanding of the diversity of variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene across ancestries hampers efforts to advance molecular diagnosis of cystic fibrosis (CF). The consequences pose a risk of delayed diagnoses and subsequently worsened health outcomes for patients. Therefore, characterizing the spectrum of CFTR variants across ancestries is critical for revolutionizing molecular diagnoses of CF.
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- Genome-wide association studies have identified many common genetic variants tied to human diseases, but the exploration of rare genetic variations has been limited.
- This study analyzes exome-sequencing data from 394,841 individuals in the UK Biobank to assess the impact of rare coding variations across 4,529 phenotypes, linking genetic associations to their frequency and potential harmfulness.
- The findings contribute to our understanding of genetic factors in health and disease, offering a public dataset and tools like the Genebass browser for researchers to investigate rare variant associations.