Kristoffer Vitting-Seerup
@kvittingseerup.bsky.social
Associate professor and leader of the Isoform Analysis Group at The Technical University of Denmark. Bioinformatician and passionated scientist. He/His
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!
April 2, 2025 at 7:45 AM
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
Importantly, this finding holds true independently of whether we consider all possible missense variants or missense variants in ClinVar/COSMIC
April 2, 2025 at 7:45 AM
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
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. 👇
Switching to analyzing rare variants, we considered ~25M potential isoform-specific missense variants predicted by #AlphaMissense. 👇
April 2, 2025 at 7:45 AM
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. 👇
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.
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.
April 2, 2025 at 7:45 AM
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.
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. 👇
Since hundreds of experimentally verified cases have shown that isoforms are important, we set out to assess the size of this opportunity gap. 👇
April 2, 2025 at 7:45 AM
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. 👇
Since hundreds of experimentally verified cases have shown that isoforms are important, we set out to assess the size of this opportunity gap. 👇
