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Heiko Runz Profile picture
Heiko Runz
@heikorunz
genetics, medicine, drug discovery, ethics
Feb 23, 2022 • 10 tweets • 5 min read
Our joint @FinnGen_FI+@uk_biobank coding variant study is now out @Nature. We bridge rare & common disease genetics by linking protein-coding variants from >650k individuals to >700 disease endpoints, resolve GWAS loci & explain mechanisms 👏@ben_b_sun 🧵rdcu.be/cHCMs We tweeted earlier on
• power of cross-biobank study to find rare/low-frequency signals
• @FinnGen_FI bottlenecked population benefits
• pleiotropy linking biomarkers & disease
• ClinVar variant disease associations
threadreaderapp.com/thread/1450067…
This new🧵is on a few vignettes
Oct 18, 2021 • 11 tweets • 9 min read
Our association study in 653K individuals linking protein-coding genetic variants from @uk_biobank exomes & imputed genotypes in @FinnGen_FI to 744 disease endpoints. Brilliant work by @ben_b_sun 1/10 @GeneticsSociety #ASHG21
medrxiv.org/cgi/content/sh… 2/ GWAS have linked 1000s of genetic variants to disease, but datasets to resolve association signals to coding genes & higher impact rare/low frequency alleles are emerging only now, e.g. through sequencing @uk_biobank or leveraging bottlenecked populations like @FinnGen_FI Image