Final PhD-paper is now published in Bioinformatics. If you plan to genotype structural variants, then make sure to read our paper first. You will get fewer errors in your genotype calls and better genotype quality: academic.oup.com/bioinformati...

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Thought long-read sequencing had “solved” structural variant genotyping? We did. Turns out many SVs still have high genotype error rates with current tools. Our new method SVUPP uses long-read pre-phasing to reduce errors and improve genotype quality
doi.org/10.1093/bioi...

We’ve got two exciting VESS speakers lined up for July 1 🤩
🎙️Daniel Zimmerman postdoc @pittdeptofmed.bsky.social
🎙️Frederik Filip Vinggaard Stæger @ffstaeger.bsky.social postdoc at Univ. of Copenhagen
Info + Zoom link: varianteffect.org/seminar-series
#Genetics #MedicalGenetics #FunctionalGenomics

Coming up in July!
www.varianteffect.org/seminar-seri...

We sequenced and analyzed the world's rarest large mammal, the #saola 🦄. That turned into a cool paper substantially increasing what we know about this elusive animal, its evolutionary history, population structure, and long-term decline.
Check it out here 👇 www.cell.com/cell/fulltex...

Really fascinating bit of work on #genetics of #Greenland - it really demonstrates why it's important to include people from diverse origins in genetic databases, but more importantly, it's also about HOW to include indigenous people in research + data sovreignty.
: www.nature.com/articles/s41...

What started as a small side-project ended up being the main project of my PhD and is now published in @nature.com 🙏

Nature research paper: Genetic architecture in Greenland is shaped by demography, structure and selection

https://go.nature.com/42Sc7pN

The Greenlandic population offers significant potential for precision medicine. The largest analysis of its kind is now in @Nature. A big thank you to all participants in the health surveys throughout the last 25 years 🙏 www.nature.com/articles/s41... 🧵1/6