Cristian Pattaro

Here an extensive summary of the paper 👇

bsky.app/profile/cpat...

👏 Shout out to Drs. Luisa Foco and Marzia De Bortoli who conducted this multi-year project to a happy ending with dedication and perseverance

We believe this may be an important step towards DSP-related disease treatment, with DSP-AS1 as the main candidate target 🎯to act on DSP

#desmoplakin #CHRISstudy #DSP

Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression - Human Genetics Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosomal genes cause autosomal dominant and recessive familial arrhythmogenic cardio...

📰 Paper out! "Genomic and molecular evidence that the lncRNA DSP-AS1 modulates desmoplakin expression" hot off the press on Human Genetics,

we demonstrate that, to alter DSP expression, DSP-AS1 can be targeted

Fully open access text 👇

link.springer.com/article/10.1...

A network of metabolites and their potential causal relationships. Green edges are Detected by the statistical causal inference method MR-link-2

Our paper, MR-link-2 has just been published! Offering pleiotropy robust Mendelian randomization from a single region! www.nature.com/articles/s41...

News Flash! Effect Size doesn't matter! PGS-world is moving from anger/denial to the bargaining phase*

News Flash! Effect sizes don't matter! The polygenic score world is moving from anger/denial to the bargaining phase. (Thanks Sasha) ‪@hughjonesd.bsky.social‬.

Lausanne Comp Bio Symposium 2025 (cbiosymposium.unil.ch)

🗓 Abstract deadline 30 June (𝟑 𝐝𝐚𝐲𝐬 𝐭𝐨 𝐠𝐨!!!)
🎤 Oral presentation notifications: 7 July
✅ Early Bird registration deadline: 11 July
💰 Registration fee for non-PI: 150 CHF

A lot about HWE 👇

A related issue that starts from AP bio is that because the students learn genetics via Mendel, they come away with the misunderstanding that every variant has to have a recessive allele and a dominant allele.

So they have to unlearn that before they can understand about SNPs.

In the face of anti-science politics, silence is not without cost More scientific leaders need to speak out about anti-science agendas and threats to academic freedom across the world.

“Having the freedom to defend science is a privilege. Those who have it owe it to everyone the world over to make their voices heard.” Our editorial calling for global academies to speak out like the Pontifical Academy just did - www.nature.com/articles/d41...

🧪
www.nature.com/articles/d41...

Adaptations to water stress and pastoralism in the Turkana of northwest Kenya The Turkana people inhabit arid regions of east Africa—where temperatures are high and water is scarce—and they practice subsistence pastoralism, such that their diet is primarily composed of animal p...

recommended read
pmc.ncbi.nlm.nih.gov/articles/PMC...

But now, very happy to see it in its final form. Doing this work has revealed me many aspects of population genetics. Surely, what I learned was much more than what we discovered... but the #STC1 - #thyroid interaction story is fascinating
gtexportal.org/home/gene/STC1

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between-and within-continent variability reflecting major environmental effects. To identify molec...

The paper was on #medRxiv since 2 years, remaining trapped at some journal's editorial office 🤦

www.medrxiv.org/content/10.1...

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting major environmental determinants. To identify...

🆕 Systematic mediation & interaction analyses of kidney function genetic loci in a general population study. Finally out @dariushghasemi.bsky.social work on the value of a single population study to assess loci from global #GWAS consortia 👏
#SLC34A1 #SHROOM3 #STC1

journals.plos.org/plosone/arti...

A blueprint for the batmobile.

Your genome is not a blueprint. A thread about misleading metaphors in science communication. 🧬🧪 1/n

Divide and Lose One Reason Why Italy’s Progressives Lost the June 2025 Referendums

Together with @paugrau.bsky.social, we have just posted our first Substack, which is our quick take on the outcome of the labour rights and citizenship referendums in Italy on 8-9 June
1/
open.substack.com/pub/simonhix...

Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch Binding Domain 1 (STBD1), Coiled-Coil Domain C...

Initial tests that were instrumental to build #Haplomics were applied to the #SHROOM3 locus for kidney function, revealing more complex population profiles

www.kireports.org/article/S246...

this is the 3rd paper in a row from @dariushghasemi.bsky.social impressive PhD path

Haplomics: A Snakemake pipeline for haplotype-based association analysis in multi-omics studies Summary Genome-wide association studies (GWAS) generated thousands of loci associated with complex traits and diseases. However, to characterize of the pleiotropic, molecular and population genetic bo...

As a post-GWAS analysis, ever thought about automatic haplotype testing @ each locus + test vs any number of traits?
👏 Amazing @dariushghasemi.bsky.social just released #Haplomics, a #Snakemake pipeline walking u all the way down to summary stats+clustering
www.medrxiv.org/content/10.1...
#statgen

Cohort Profile: the Cooperative Health Research in South Tyrol study | Institute for Biomedicine – Eurac Research We are pleased to announce our latest research publication "Cohort Profile: the Cooperative Health Research in South Tyrol (CHRIS) Study." This paper represents our very first complete cohor...

6/ Other infos here:

www.linkedin.com/posts/instit...

The wider contribution of this paper is to provide a stepwise framework for selecting instruments for a complex trait based on biological considerations that is transparent and can be pre-specified. In practice, analysts typically should present results with different instrument choices.

Can you use variant level information in colocalisation? Yes! Will it improve accuracy on average? Yes! Will it make a substantial difference? Not using any information we could think of.

Very nice work by @jeffreypullin.bsky.social to adapt coloc to enable these questions to be addressed.

Read more in our latest paper from Rotimi & colleagues: shorturl.at/V2mL1

Sequential recruitment of study participants may inflate genetic heritability estimates - Human Genetics After the success of genome-wide association studies to uncover complex trait loci, attempts to explain the remaining genetic heritability (h 2) are mainly focused on unraveling rare variant associati...

5/ and here:
link.springer.com/article/10.1...

The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results - Journal of Translational Medicine The Cooperative Health Research In South Tyrol (CHRIS) study is a population-based study with a longitudinal lookout to investigate the genetic and molecular basis of age-related common chronic condit...

4/ More on the study design and protocols can be found here
translational-medicine.biomedcentral.com/articles/10....

3/ Kudos to Rebecca Lundin, Roberto Melotti, and the whole team to get this fundamental paper published

2/ The work describes one of the largest population-based studies in #Italy, characteristics of the baseline (n>13K) and of the ongoing active follow-up, including multiple omics

Cohort Profile: the Cooperative Health Research in South Tyrol study Italy’s autonomous South Tyrol province is uniquely adapted to longitudinal population studies of health and healthy aging with its alpine setting, self-go

🆕 The Cohort Profile paper of the Cooperative Health Research In South Tyrol is out on @intjepidemiol.bsky.social 🧵

academic.oup.com/ije/article/...

📣 Latest from the lab: Performance of deep-learning-based approaches to improve polygenic scores www.nature.com/articles/s41...

Its thought deep learning will substantially improve PGS but the reality is MANY have tried but no/little gain has been seen so far. Here we report our negative results.

You Don’t Need More Ideas. You Need a Better Question What Michelangelo, a Nobel Laureate, and a PhD Meltdown Taught Me about Research Questions

You don’t need more ideas.

You need a better question.

A thread on clarity, chaos, & what a Nobel Prize winner, a mosquito net & a PhD meltdown taught me about writing (+ thinking) better.

🪨 Here’s my new Respect the Marble post: catherineeunicedevries.substack.com/p/you-dont-n...

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