Almost forgot: Shout out to @nextflow.io for sending us stickers to get a bit of conference vibe here in innsbruck 🎉

Details about the workshop can be found here: genepi.i-med.ac.at/workshops/ne... Please feel free to reply directly to this thread for feature requests or via Github: github.com/genepi/imput...
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Btw, you can now set the mean minimum coverage when submitting a job, making it easier to work with low-coverage data. Let us know which features you’d like to see next. For graphical job execution click here: mitoverse.i-med.ac.at

And I almost forgot the most frightening moment in this journey: shutting down the old server after 9 years. #byebyehadoop

Our framework AND pipeline are now used by all the major imputation servers - Michigan, Topmed, Munich - which makes us quite proud. It’s also great to see @stephenturner.us covering us in his recent blog: tinyurl.com/5tp9tz7e.
We would love to hear from more imputation servers around the world. 🌏

We believe this work will help others analyze VNTRs from short-read sequencing data and understand their impact on numerous human phenotypes, potentially explaining parts of the missing heritability. end.

For the first time, we were able to analyze the LPA VNTR in >199,000 samples from the UKB. This approach successfully revealed new, strong Lp(a)-lowering effects for KIV-2 variants, with a protective effect against coronary artery disease, and also validated previous findings. 5/n

And yes, we can! We developed a computational approach to resolve intra-repeat variation in the KIV-2 VNTR region using widely available short-read sequencing data, and we also applied it to 5 other medically relevant VNTRs 4/n

We specifically focused on the "dark" region of the cardiovascular disease gene LPA – the so-called KIV-2 VNTR. We wanted to determine if we could decipher this region using short-read sequencing data 3/n

In July this year, we (Silvia Di Maio, Peter Zöscher and @stncsn.bsky.social et al.) published a Genome Biology paper to decipher repeats in the human genome, so called VNTRs genomebiology.biomedcentral.com/articles/10.... 2/n