Francesco Mazzarotto

One on left is a black dog and above it the words “Reality”. Below it is “I chased a squirrel” One the right is a black dog and above it says “LinkedIn”. Below it says, Proud to announce that I effectively executed a rapid-response squirrel displacement strategy to mitigate potential yard intrusions. Humbled by the unwavering support of my family and local stakeholders. This experience reinforced the importance of vigilance, ownership, and continuous improvement. Looking forward to scaling this impact in future engagements.

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The missing heritability question is now (mostly) answered Not with a bang but with a whimper

"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...

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…

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...

The Platinum Pedigree: a long-read benchmark for genetic variants - Nature Methods This work introduces a pedigree-derived benchmark for single-nucleotide variants, indels, structural variants and tandem repeats, offering a variant map to validate sequencing workflows or to support ...

Wonderful new benchmark to optimize identification of complex variants and/or variants in difficult genomic regions - including centromeric repeats!

www.nature.com/articles/s41...

Finally transitioned to BlueSky 🔵 hello everyone!