Lastly, a bonus analysis for the #proteomics interested people: To our knowledge, the first systematic meta-analysis of isoform abundance across numerous proteomics datasets shows that up to 32.8% of detected genes utilize multiple major isoforms!

We find that 72.7% of analyzed human missense variants have a different functional interpretation in another isoform.

Importantly, this finding holds true independently of whether we consider all possible missense variants or missense variants in ClinVar/COSMIC

Using strict colocalization we find that ~45% of genes associated with 9,804 GWAS phenotypes exhibit isoform-specific effects have isoform-level effects!

Switching to analyzing rare variants, we considered ~25M potential isoform-specific missense variants predicted by #AlphaMissense. 👇

We systematically assessed the impact of isoform-level analysis across more than 100 QTL datasets and 76 million human genetic variants

Using QTL data, we find that gene expression alone only explains 46.7% of the genes affected by common variants —the rest are also affected at the isoform level.

We find that less than 20% of recent peer-reviewed genetics articles consider splicing/isoforms, even though they have the data to analyze them.

Since hundreds of experimentally verified cases have shown that isoforms are important, we set out to assess the size of this opportunity gap. 👇

The Genetics research community has a problem. Most recent articles do not consider #splicing/isoforms.

Here, we analyze how important this opportunity gap is - and spoiler warning - we find it is essential for both analysis of common and rare variants

More info👇

www.medrxiv.org/content/10.1...

We (here at the DTU) are looking for an Associate Professor in Deep Learning Health Bioinformatics. Come join us in Denmark! And don't hesitate to email if you have any questions!

Hi Genomics/Bioinformatics 🖥️ 🧬

I'm Kristoffer and I'm looking forward to talk science/bioinformatics with you all 😁

What is the best way to get started here?

Hi @danirabaiotti.bsky.social - I just moved here from twitter. Could you add me to the the What's Science feed? I'd like to get into the Genomics/Bioinformatics 🖥️ 🧬 feed 😁