iiinova — where your digital self keeps evolving

Francesco Mazzarotto @f-mazz.bsky.social · 11/09/2026

This study is the result of fantastic collaborative work between the University of Brescia , Imperial College London (@jamesware.bsky.social @rachelbuc.bsky.social and team), the Aswan Heart Centre, the Motol University Hospital, the University of Florence, @roddywalsh.bsky.social and Velsera 👏🌟

001

Francesco Mazzarotto @f-mazz.bsky.social · 11/09/2026

These results show that pangenome-based approaches can improve variant detection in the clinical context and suggest that they may lead to unified, efficient and cost-effective all-size variant detection frameworks.

100

Francesco Mazzarotto @f-mazz.bsky.social · 11/09/2026

The pangenome-based workflow GRAF yielded the best performance, both on our data and on WES GIAB reference sample HG002 (F1: 0.86 and 0.97, respectively). In addition, GRAF performed better than GATKHaplotypeCaller in detecting also small variants (1-19bp; F1: 0.975 vs 0.968).

100

Francesco Mazzarotto @f-mazz.bsky.social · 11/09/2026

We analysed 1,969 cardiomyopathy cases and 1,805 controls sequenced with the Illumina Trusight Cardio gene panel, comparing the performance of 6 orthogonal approaches in detecting variants ≥20bp in size (Velsera GRAF, GATKHaplotypeCaller, GATKgCNV, ExomeDepth, LumpySV and Manta).

100

Reposted by Francesco Mazzarotto

Andrea Ganna @andganna.bsky.social · 06/05/2026

New preprint on a controversial topic: Through which socioeconomic mechanisms do individuals with higher genetic predisposition for educational attainment end up with higher income over their working life? We study this using uniquely rich Finnish data.

1106

Reposted by Francesco Mazzarotto

Richard Sever @richardsever.bsky.social · 22/11/2025

"It may be uncomfortable to conclude that a widely used study design has been producing spurious results. But the evidence is in, and telling uncomfortable truths is a part of doing science." Problems with twin studies. theinfinitesimal.substack.com/p/the-missin...

theinfinitesimal.substack.com

The missing heritability question is now (mostly) answered

Not with a bang but with a whimper

03818

Francesco Mazzarotto @f-mazz.bsky.social · 09/08/2025

Excellent work by Stefania - postdoc in our group - in discussing 26 different tools for allele-specific expression analysis 🧬🔬💻 Review now out in Computers in Biology and Medicine 📰 #bioinf #bioinformatics www.sciencedirect.com/science/arti...

sciencedirect.com

Allele-specific expression analysis: pipelines, applications, challenges, and unmet needs

In diploid organisms, genes typically exhibit balanced expression of maternal and paternal alleles. However, exceptions exist, such as autosomal genes…

040

Francesco Mazzarotto @f-mazz.bsky.social · 18/02/2025

Finally transitioned to BlueSky 🔵 hello everyone!

020