Frederik Stæger

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...

07.01.2026 08:05 — 👍 3    🔁 0    💬 0    📌 0

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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...

07.01.2026 08:00 — 👍 3    🔁 3    💬 1    📌 1

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

16.06.2025 17:26 — 👍 3    🔁 4    💬 0    📌 1

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

10.06.2025 16:27 — 👍 3    🔁 3    💬 0    📌 0

Genomes of critically endangered saola are shaped by population structure and purging The generation of whole-genome sequencing data from 26 saolas provides insights into the phylogenetic placement, population structure, historical decline, and genetic diversity in one of the world’s m...

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...

06.05.2025 07:26 — 👍 32    🔁 13    💬 2    📌 2

Genetic architecture in Greenland is shaped by demography, structure and selection - Nature We illustrate that including data from Greenlandic Inuit can greatly reduce inequity in genomic-based healthcare in Greenland and other indigenous Arctic populations.

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...

17.03.2025 13:50 — 👍 38    🔁 13    💬 1    📌 0

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

20.03.2025 09:48 — 👍 2    🔁 0    💬 0    📌 0

Genetic architecture in Greenland is shaped by demography, structure and selection - Nature We illustrate that including data from Greenlandic Inuit can greatly reduce inequity in genomic-based healthcare in Greenland and other indigenous Arctic populations.

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

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

13.02.2025 10:08 — 👍 30    🔁 5    💬 0    📌 2

Genetic architecture in Greenland is shaped by demography, structure and selection - Nature We illustrate that including data from Greenlandic Inuit can greatly reduce inequity in genomic-based healthcare in Greenland and other indigenous Arctic populations.

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

20.03.2025 09:32 — 👍 8    🔁 4    💬 1    📌 1