It was great to be able to contribute the EP400 finding to this preprint. Together with @ginaravenscroft.bsky.social and @cfolland.bsky.social we flagged a novel CAG repeat locus in the EP400 gene as a likely (though extremely rare) cause of spinocerebell…
RP @doctorveera.bsky.social: Profiling tandem repeats variations in the population using 1027 long read genomes from All of Us cohort. All the samples are from individuals of African and African American ancestries. 1/ Danxi, Xu et al. bioRxiv www.bio…
Great to see new findings coming from the All of Us data. Such a valuable project for, literally, all of us. https://bsky.app/profile/did:plc:47k2czyqk6fcgfzf4mu7btqg/post/3lfd4fb77z22q
Profiling tandem repeats variations in the population using 1027 long read genomes from All of Us cohort. All the samples are from individuals of African and African American ancestries. 1/ Danxi, Xu et al. bioRxiv www.biorxiv.org/content/10.1...