
Francesco Mazzarotto
@franz_mazz
โบLecturer in medical genetics @unibs_official
โบHonorary Research Fellow @imperialcollege
โบBioinformatician at work on cardio ๐ซ and psych ๐ง genetics ๐งฌ
ID: 1005446221283119110
09-06-2018 13:47:14
148 Tweet
254 Followers
201 Following


Want to know more on the dominance/recessiveness spectrum in cardiomyopathy? ๐ซ๐งฌ Check out the ๐งตbelow by Roddy Walsh ๐ช๐บ ๐บ๐ฆ and our new study published by Nature Cardiovascular Research ๐ Excellent team work with Alex Lipov, Sean Jurgens and colleagues ๐ฏ Paper here: nature.com/articles/s4416โฆ

First of a series of "IDs" of the main recessive cardiomyopathy genes, in light of our recent work published by Nature Cardiovascular Research ๐ซ๐งฌ โฌ๏ธ BAG5 on the stage! โฌ๏ธ #cardiogen #CardioTwitter #genetics


Our latest #recessiveCMgenes summary is for TRIM63, probably the most prevalent biallelic gene for hypertrophic cardiomyopathy and one with several unique characteristics. See the full details in our recent Nature Cardiovascular Research study nature.com/articles/s4416โฆ


Next in our series of recessive cardiomyopathy genes: RPL3L. A great example of a gene harboring a spectrum of phenotypes across allele zygosity! #recessiveCMgenes See the full details in our recent Nature Cardiovascular Research study nature.com/articles/s4416โฆ Roddy Walsh ๐ช๐บ ๐บ๐ฆ Francesco Mazzarotto






Finally out! ๐ฅ Really enjoyed working on this review on genome-wide associations with variants other than SNPs ๐งฌ Learnt a lot from a great team - feeling blessed and loving this! Review here: nature.com/articles/s4157โฆ Thread by Nature Reviews Genetics below โฌ๏ธ

Genome-wide association studies focusing on SNPs have advanced our understanding of certain diseases but are reaching limits for some conditions. This Nature Reviews Genetics review highlights how exploring copy number variation can help break these limits. nature.com/articles/s4157โฆ


Congratulations Sean Zheng James Ware and the many others who worked toward this incredible effort! Very grateful for having had the chance to contribute, even in a small way, to this new HCM GWAS ๐งฌ๐ซ #cardiogen #gwas #prs