Francesco Mazzarotto's Avatar

Francesco Mazzarotto

@f-mazz.bsky.social

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

24 Followers  |  44 Following  |  3 Posts  |  Joined: 23.11.2024  |  1.8843

Latest posts by f-mazz.bsky.social on Bluesky

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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 โ€” 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 โ€” ๐Ÿ‘ 0    ๐Ÿ” 0    ๐Ÿ’ฌ 0    ๐Ÿ“Œ 0

Finally transitioned to BlueSky ๐Ÿ”ต hello everyone!

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

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