Francesco Mazzarotto (@franz_mazz) 's Twitter Profile
Francesco Mazzarotto

@franz_mazz

โœบLecturer in medical genetics @unibs_official

โœบHonorary Research Fellow @imperialcollege

โœบBioinformatician at work on cardio ๐Ÿซ€ and psych ๐Ÿง  genetics ๐Ÿงฌ

ID: 1005446221283119110

calendar_today09-06-2018 13:47:14

148 Tweet

254 Followers

201 Following

Francesco Mazzarotto (@franz_mazz) 's Twitter Profile Photo

Want to know more on the dominance/recessiveness spectrum in cardiomyopathy? ๐Ÿซ€๐Ÿงฌ Check out the ๐Ÿงตbelow by Roddy Walsh ๐Ÿ‡ช๐Ÿ‡บ ๐Ÿ‡บ๐Ÿ‡ฆ and our new study published by Nature Cardiovascular Research ๐Ÿ‘‡ Excellent team work with Alex Lipov, Sean Jurgens and colleagues ๐ŸŽฏ Paper here: nature.com/articles/s4416โ€ฆ

Francesco Mazzarotto (@franz_mazz) 's Twitter Profile Photo

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

Roddy Walsh ๐Ÿ‡ช๐Ÿ‡บ ๐Ÿ‡บ๐Ÿ‡ฆ (@roddywalsh) 's Twitter Profile Photo

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/s4416โ€ฆ

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 <a href="/NatureCVR/">Nature Cardiovascular Research</a> study nature.com/articles/s4416โ€ฆ
Sean Jurgens (@jurgenssean) 's Twitter Profile Photo

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/s4416โ€ฆ Roddy Walsh ๐Ÿ‡ช๐Ÿ‡บ ๐Ÿ‡บ๐Ÿ‡ฆ Francesco Mazzarotto

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
<a href="/NatureCVR/">Nature Cardiovascular Research</a> study nature.com/articles/s4416โ€ฆ
<a href="/roddywalsh/">Roddy Walsh ๐Ÿ‡ช๐Ÿ‡บ ๐Ÿ‡บ๐Ÿ‡ฆ</a> <a href="/franz_mazz/">Francesco Mazzarotto</a>
James Ware (@drjamesware) 's Twitter Profile Photo

Guideline text is leaning heavily on the word โ€œusuallyโ€ here - though true in that context. But much more efficient to do comprehensive testing first time rather than reserving analysis of genes that are more rarely causal to those who test negative for the traditional 8โ€ฆ

Francesco Mazzarotto (@franz_mazz) 's Twitter Profile Photo

What a result.... ๐Ÿ’ฅ So grateful and proud to collaborate with and be part of such an amazing institution ๐Ÿ™ #imperialcollege #QSWUR

Francesco Mazzarotto (@franz_mazz) 's Twitter Profile Photo

Finally out! ๐Ÿ”ฅ Really enjoyed working on this review on genome-wide associations with variants other than SNPs ๐Ÿงฌ Learnt a lot from a great team - feeling blessed and loving this! Review here: nature.com/articles/s4157โ€ฆ Thread by Nature Reviews Genetics below โฌ‡๏ธ

EMBL-EBI (@emblebi) 's Twitter Profile Photo

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/s4157โ€ฆ

Genome-wide association studies focusing on SNPs have advanced our understanding of certain diseases but are reaching limits for some conditions.

This <a href="/NatureRevGenet/">Nature Reviews Genetics</a> review highlights how exploring copy number variation can help break these limits.

nature.com/articles/s4157โ€ฆ
Francesco Mazzarotto (@franz_mazz) 's Twitter Profile Photo

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 ๐Ÿงฌ๐Ÿซ€ #cardiogen #gwas #prs