Francesco Mazzarotto's Avatar

Francesco Mazzarotto

@f-mazz

Bioinformatic scientist at work to disentangle the genetic basis of cardiovascular disease and mental illness ๐Ÿงฌ๐Ÿซ€๐Ÿง  University of Brescia ๐Ÿ‡ฎ๐Ÿ‡น | Imperial College London ๐Ÿ‡ฌ๐Ÿ‡ง Travel lover ๐ŸŒ | โšฝ player | ๐Ÿ‰ fan | many places to call ๐Ÿก

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23.11.2024
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Latest posts by Francesco Mazzarotto @f-mazz

One on left is a black dog and above it the words โ€œRealityโ€. Below it is โ€œI chased a squirrelโ€ 

One the right is a black dog and above it says โ€œLinkedInโ€. 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.

One on left is a black dog and above it the words โ€œRealityโ€. Below it is โ€œI chased a squirrelโ€ One the right is a black dog and above it says โ€œLinkedInโ€. 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.

๐Ÿ˜‚

11.02.2026 12:10 ๐Ÿ‘ 4384 ๐Ÿ” 1171 ๐Ÿ’ฌ 70 ๐Ÿ“Œ 98
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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...

22.11.2025 14:03 ๐Ÿ‘ 38 ๐Ÿ” 18 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 3
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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 genesโ€ฆ

Excellent work by Stefania - postdoc in our group - in discussing 26 different tools for allele-specific expression analysis ๐Ÿงฌ๐Ÿ”ฌ๐Ÿ’ป

Review now out in Computers in Biology and Medicine ๐Ÿ“ฐ

#bioinf #bioinformatics

www.sciencedirect.com/science/arti...

09.08.2025 06:20 ๐Ÿ‘ 4 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0
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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...

07.08.2025 10:02 ๐Ÿ‘ 0 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0

Finally transitioned to BlueSky ๐Ÿ”ต hello everyone!

18.02.2025 16:07 ๐Ÿ‘ 2 ๐Ÿ” 0 ๐Ÿ’ฌ 0 ๐Ÿ“Œ 0