Francesco Mazzarotto
@f-mazz.bsky.social
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 🏡
University of Brescia 🇮🇹 | Imperial College London 🇬🇧
Travel lover 🌏 | ⚽ player | 🏉 fan | many places to call 🏡
Reposted by Francesco Mazzarotto
"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...
Problems with twin studies.
theinfinitesimal.substack.com/p/the-missin...
The missing heritability question is now (mostly) answered
Not with a bang but with a whimper
theinfinitesimal.substack.com
November 22, 2025 at 2:03 PM
"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...
Problems with twin studies.
theinfinitesimal.substack.com/p/the-missin...
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...
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
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...
Review now out in Computers in Biology and Medicine 📰
#bioinf #bioinformatics
www.sciencedirect.com/science/arti...
Wonderful new benchmark to optimize identification of complex variants and/or variants in difficult genomic regions - including centromeric repeats!
www.nature.com/articles/s41...
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
Wonderful new benchmark to optimize identification of complex variants and/or variants in difficult genomic regions - including centromeric repeats!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Finally transitioned to BlueSky 🔵 hello everyone!
February 18, 2025 at 4:07 PM
Finally transitioned to BlueSky 🔵 hello everyone!