Francesco Mazzarotto
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f-mazz.bsky.social
Francesco Mazzarotto
@f-mazz.bsky.social
27 followers 45 following 3 posts
Bioinformatic scientist at work to disentangle the genetic basis of cardiovascular disease and mental illness 🧬🫀🧠

University of Brescia 🇮🇹 | Imperial College London 🇬🇧

Travel lover 🌏 | ⚽ player | 🏉 fan | many places to call 🏡
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f-mazz.bsky.social
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...
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…
www.sciencedirect.com
August 9, 2025 at 6:20 AM
f-mazz.bsky.social
Wonderful new benchmark to optimize identification of complex variants and/or variants in difficult genomic regions - including centromeric repeats!

www.nature.com/articles/s41...
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 ...
www.nature.com
August 7, 2025 at 10:02 AM
f-mazz.bsky.social
Finally transitioned to BlueSky 🔵 hello everyone!
February 18, 2025 at 4:07 PM