drghawkes.bsky.social
MRC Career Development Fellow, Lecturer in Health Data Science, University of Exeter. Academic in genetics, rare variants and complex traits
👤 Joined on 17 August 2024
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@drghawkes.bsky.socialVery nice work led @drghawkes.bsky.social, showing convergence between rare and common genetic associations, using whole-genome sequencing data to evaluate the contribution of rare non-coding variants for commonly studied anthropometric traits 🧪🧬 www.nature.com/articles/s41...
Show PostWoo!!! @hiwwright.bsky.social bamboozles us with his All of Us mastery! This is the result of lot of hard work and some brilliance from one of the most talented ECRs I’ve worked with A very important message which will reduce a lot of noise in aggregate associations, and improve interpretability
Show PostExcited to share my first preprint on federated conditional analysis of rare single variant and aggregate association tests across six genetically-inferred ancestry groups in All of Us and UK Biobank doi.org/10.64898/202...
Show PostMassive thanks to everyone involved in this study, @chundru.bsky.social @drarwood.bsky.social @carolinefwright.bsky.social @laferrat.bsky.social @rnbeaumont.bsky.social @mnweedon.bsky.social @kash-a-patel.bsky.social @drghawkes.bsky.social @timfrayling.bsky.social Liza Darrous and Aurelie Kamoun
Show PostThis is because rare variants and aggregates are confounded by linkage and haplotype structure, just like common variant GWAS. Previous methods which rely on reference panels or LD-matrices to determine independence break down or don't scale to very rare variants in WGS data
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