A5056428863- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Cancer-related gene regulation
- BRCA gene mutations in cancer
- Congenital heart defects research
Royal Devon and Exeter Hospital
2022-2024
University of Exeter
2021-2024
Many rare monogenic diseases are known to be caused by deleterious variants in thousands of genes, however the same can also found people without associated clinical phenotypes. The penetrance these is generally unknown wider population, as they typically identified small cohorts affected individuals and families with highly penetrant variants. Here, we investigated phenotypic effect rare, potentially genes loci where similar cause developmental disorders (DDs) a large population cohort. We...
Abstract Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown milder subclinical phenotypes population cohorts. Here, we show that carrying multiple (2−5) rare across 599 dominant DD has an additive adverse effect on numerous cognitive socioeconomic traits UK Biobank, which can be partially counterbalanced by higher educational attainment polygenic score (EA-PGS). Phenotypic deviators from expected EA-PGS could...
ABSTRACT Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DD), and have been shown milder sub-clinical phenotypes population cohorts. To investigate potential genetic modifiers, we identified individuals UK Biobank with predicted deleterious 599 autosomal dominant DD genes, found that carrying multiple rare these had an additive adverse effect on numerous cognitive socio-economic traits, which could be partially counterbalanced by higher...
ABSTRACT Many rare diseases are known to be caused by deleterious variants in Mendelian genes, however the same can also found people without associated clinical phenotypes. The penetrance of these monogenic is generally unknown wider population, as they typically identified small cohorts affected individuals and families with highly penetrant variants. Here, we investigated phenotypic effect rare, potentially genes loci that cause developmental disorders (DD) a large population cohort. We...