Publications by authors named "Marie Erwood"
Article Synopsis
- A study explored the effectiveness of using short-read and long-read genome sequencing to identify genetic causes of neurodevelopmental disorders (NDDs) in individuals who previously did not receive a genetic diagnosis.
- The research involved 692 individuals, finding causal variants in 36% of affected individuals and uncertain variants in another 23%.
- Long-read sequencing proved beneficial for resolving complex structural variants and improving the overall understanding of genetic contributions to NDDs.
Background: Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (WGS), resolve the precise variant configuration and investigate possible mechanisms of cxSV formation.
Methods: We performed short-read WGS and analysis of breakpoint junctions to identify cxSVs in a cohort of 1324 undiagnosed rare disease patients.
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals.
View Article and Find Full Text PDF