Caroline Wright

Jul 29, 2024 | nature.com | Caroline Wright |Luke Sharp |Leigh Jackson |Anna Murray |James S. Ware |Heidi Rehm | +1 more

AbstractPenetrance is the probability that an individual with a pathogenic genetic variant develops a specific disease. Knowing the penetrance of variants for monogenic disorders is important for counseling of individuals. Until recently, estimates of penetrance have largely relied on affected individuals and their at-risk family members being clinically referred for genetic testing, a ‘phenotype-first’ approach.

Jul 11, 2024 | nature.com | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Sarah Stenton |Susan Walker |Jenny Lord | +42 more

AbstractAround 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2.

Apr 26, 2024 | genomemedicine.biomedcentral.com | Robin Beaumont |Gareth Hawkes |Adam C Gunning |Caroline Wright

Variants from exome sequencing (ES) data within the UK Biobank were called centrally by the UKB team using graphTyper [19]. We used the Ensembl VEP v104 [20] with the LOFTEE plugin [15] to annotate the variants with their predicted functional consequences. We excluded variants which were flagged for removal by UKB due to low depth based on 90% of calls having depth < 10.

Jun 22, 2023 | nature.com | Saleh Shekari |Stasa Stankovic |Eugene J. Gardner |Gareth Hawkes |Katherine A. Kentistou |Robin Beaumont | +6 more

Author notesThese authors contributed equally: Saleh Shekari, Stasa Stankovic, John R. B. Perry, Anna Murray. Authors and AffiliationsDepartment of Clinical and Biomedical Sciences, University of Exeter, Exeter, UKSaleh Shekari, Gareth Hawkes, Robin N. Beaumont, Andrew R. Wood, Caroline F. Wright, Michael N. Weedon, Katherine S. Ruth & Anna MurraySchool of Public Health, Faculty of Medicine, University of Queensland, Brisbane, Queensland, AustraliaSaleh Shekari & Gita D.