iiinova — where your digital self keeps evolving

Robin Beaumont

@rnbeaumont.bsky.social

Reposted by Robin Beaumont

Harry Wright @hiwwright.bsky.social · 06/02/2026

Excited 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...

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Reposted by Robin Beaumont

Dr Gareth Hawkes @drghawkes.bsky.social · 17/11/2025

Interested in whole genomes, AI and functional validation? Sign up to hear more about our summer school in the sunny southwest U.K. @exeter.ac.uk in Sept 2026, in partnership with the U.K. Functional Genomics Initiative @uk-fgx.bsky.social and Google Deepmind @nihrexeterbrc.bsky.social

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Reposted by Robin Beaumont

Kartik Chundru @chundru.bsky.social · 08/11/2025

New paper on everyone’s favourite topic, QC! We show why you should do genotype-level QC on your WGS data www.biorxiv.org/content/10.1... Very real quotes about this paper - “The most exciting, mind-blowing paper of the year!” “On a par with Fisher 1918” “I read it every night. Just so beautiful”

biorxiv.org

Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing

Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...

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