Cristian Pattaro
@cpattaro.bsky.social
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📥 237
📝 191
Biostatistics. Genetics. Epidemiology. Group leader of Biostats & Epi @ Eurac Research
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Cristian Pattaro
Neil deGrasse Tyson
about 13 hours ago
Every machine in a Hospital that diagnoses your body without cutting you open is based on a principle of Physics, discovered by a Physicist who had no interest in Medicine. If you think the world doesn’t need Basic Science, or that somehow Science has failed you, think again.
#sciencematters
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Data are there. Methods are there. And the missing heritability issue is nearly over. All in this beautifully-written piece
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new genomic annotation resource by Christopher E Gillies et al: Variant Classification Using Proteomics‐Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery
onlinelibrary.wiley.com/doi/10.1002/...
w github repo
github.com/rgcgithub/es...
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https://onlinelibrary.wiley.com/doi/10.1002/gepi.70023
6 days ago
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Daniel E. Weeks
12 days ago
“Promiscuous dichotomisation is yet another way of torturing the data to produce false confessions of which we must be eternally wary.”
#statistics
#P-hacking
#stats
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Olav Smeland
13 days ago
Excited to share our cross-disorder GWAS analysis of neurological and psychiatric disorders (~1 M cases), now out in
@natneuro.nature.com
! We show more extensive genetic pleiotropy than previously recognized, supporting a more unified view of these disorders
rdcu.be/ePmwD
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A genome-wide analysis of the shared genetic risk architecture of complex neurological and psychiatric disorders
Nature Neuroscience - Smeland et al. demonstrate greater genetic overlap between neurological and psychiatric disorders than previously recognized, along with diverse neurobiological associations....
https://rdcu.be/ePmwD
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Cristian Pattaro
13 days ago
First time on Bsky and first big announcement! I am excited to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Our manuscript is here:
www.nature.com/articles/s41...
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Estimation and mapping of the missing heritability of human phenotypes - Nature
WGS data were used from 347,630 individuals with European ancestry in the UK Biobank to obtain high-precision estimates of coding and non-coding rare variant heritability for 34 co...
https://www.nature.com/articles/s41586-025-09720-6
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Triad sou.
14 days ago
On “Confirmatory” Methodological Research in Statistics and Related Fields. F. J. D. Lange, Juliane C. Wilcke, Sabine Hoffmann, Moritz Herrmann, Anne-Laure Boulesteix. Statistics in Medicine.
onlinelibrary.wiley.com/doi/10.1002/...
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On “Confirmatory” Methodological Research in Statistics and Related Fields
Empirical substantive research, such as in the life or social sciences, is commonly categorized into the two modes exploratory and confirmatory, both of which are essential to scientific progress. Th...
https://onlinelibrary.wiley.com/doi/10.1002/sim.70303?af=R
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Edgar V. Lerma 🇵🇭
18 days ago
Is It Time to Consider Population-Based Urine Dipstick Screening for Early Detection of Kidney Disease? ca. 2025 from
@kireports.bsky.social
@saynanorouzi.bsky.social
#Nephpearls
#KidneyWk
#NephSky
👉
www.kireports.org/article/S246...
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AldoLabZennaro
26 days ago
I am deeply honored to have been awarded the European Hormone Medal 2026!
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George Davey Smith
about 1 month ago
Galton calling for data sharing in 1901 - does anyone know of earlier examples?
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Maria Bigoni
about 1 month ago
🚨 Job Market Alert 🚨 The Department of Economics of the University of Bologna invites applications for a fixed-term Assistant Professor position **any field** starting AY 2026/27. 📅 Apply by Nov 10 💼 6-year contract, low teaching load, no Italian required. Info:
econjobmarket.org/positions/11...
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Frank Harrell
about 1 month ago
Glad to see this! I’ve long preferred a single robust well thought-out model that includes terms for things we know we don’t know such as interactions and nonlinearity of predictor effects. Bayesian models use skeptical priors for complexities we hope we don’t need.
#StatsSky
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Further evidence that race and ethnicity are social constructs: at the same level of genetic admixture, self-assigned race/ethnicity varies by ancestry, with age also playing a role in the self-classification process
#popgen
onlinelibrary.wiley.com/doi/10.1002/...
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The Complex Relationship of Genetic Ancestry With Self‐Reported Race/Ethnicity
Race and ethnicity are demographic constructs used to characterize individuals in biomedical research, and in particular to assess health disparities. Their use in medicine and research has been disc....
https://onlinelibrary.wiley.com/doi/10.1002/gepi.70019
about 1 month ago
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Michael Friendly
about 1 month ago
#rstats
#dataviz
Over 30 years ago, when I was doing graphics with
#SAS
, I imagined traveling in color space and computing meaningful palettes. I ranted that: Every time you are forced to say “#008B8B” or “cyan4” a puppy dies somewhere
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Another great paper and neat analysis from Andrea's group 👏
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about 1 month ago
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Cristian Pattaro
about 1 month ago
1/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author
@kanwalbatool.bsky.social
:)
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ASN Publications
about 1 month ago
In a new "Mechanisms of Kidney Disease" article in #ASNJASN, authors explore population studies and the genetic architecture of kidney diseases, highlighting a spectrum of risk. Read more:
kidney.pub/JASN0893
#ASNJASN,
@dannygale.bsky.social
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Frank Harrell
about 1 month ago
Briefly the two measures must already be perfectly transformed, there be no floor or ceiling effects, and difference must be unrelated to baseline. Details at
hbiostat.org/bbr/change
#Statistics
#StatsSky
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14 Transformations, Measuring Change, and Regression to the Mean – Biostatistics for Biomedical Research
https://hbiostat.org/bbr/change
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Nicholas Mancuso
about 2 months ago
5 YEARS of HGG Advances! Mike, Jessica, Sara, and so many others have done such a fantastic job in shaping and expanding the journal. Please consider submitting your work in genetics/genomics with us!
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"a polygenic score, by design, is acausal. It is a correlation accumulator"
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about 2 months ago
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"dependence is the modal human condition"
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about 2 months ago
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Massive
#retraction
of
#Mendelianrandomization
papers @ Skin Res Technol, >30 papers retracted in a single issue Unclear biological rationale supporting valid application of MR to the research question 😶 Decision by journal+publisher. Authors disagree
onlinelibrary.wiley.com/toc/16000846...
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Skin Research and Technology: Vol 31, No 10
Click on the title to browse this issue
https://onlinelibrary.wiley.com/toc/16000846/2025/31/10
about 2 months ago
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Tuuli Lappalainen
about 2 months ago
We're hiring! My team at
@nygenome.org
is looking for a statistical genetics postdoc to decipher functional architecture of complex diseases from cutting-edge CRISPR+scRNA-seq data, with
@nevillesanjana.bsky.social
lab. Happy to meet at
#ASHG25
, apply here
jobs.silkroad.com/NYGenome/Car...
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Postdoctoral Research Associate, Lappalainen & Sanjana Labs - 101 Avenue of the Americas, 7th Floor, New York, New York - New York Genome Center
Find a career with New York Genome Center
https://jobs.silkroad.com/NYGenome/Careers/jobs/591?source=ONLINE
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Janne Pott
about 2 months ago
📣Preprint alert - a tricky one, as there are no significant results (and we all know null-results are hard to publish) Do PCSK9 levels affect survival in breast cancer patients? We tried to replicate findings in cell lines and mouse model using 3 Mendelian Randomization approaches, but failed.
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Towards race-free predictive formulas: a path that should not be abandoned
www.nejm.org/doi/full/10....
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The Race-Correction Debates — Progress, Tensions, and Future Directions | NEJM
Many race-adjusted clinical tools have recently been scrutinized and replaced with race-neutral versions — efforts that have faced obstacles and generated contentious debate about the use of race i...
https://www.nejm.org/doi/full/10.1056/NEJMms2506241?query=nephrology
about 2 months ago
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reflections on
#sociogenomics
#popgen
www.cell.com/trends/genet...
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A tale of two sociogenomics: shall the twain ever meet?
How does the social environment ‘get under the skin’ to influence the behavior of individual animals and humans and the activity of their genomes? And, conversely, how do genetic variants influence so...
https://www.cell.com/trends/genetics/fulltext/S0168-9525(25)00198-2?dgcid=raven_jbs_etoc_email
about 2 months ago
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Very nice application of factor analysis
#stats
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about 2 months ago
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Mike Inouye
about 2 months ago
Not unrelated... I've recently updated the Research page on our lab's website (first time in nearly 10 years!)
www.inouyelab.org/home/research
and we are now recruiting PhD students for autumn 2026
@dphpc.bsky.social
@cam.ac.uk
- feel free to get in touch!
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Inouye Lab - Research
Background Technological advances have continued to drive the study of biology towards the statistical and computational sciences. We are now able to differentiate and quantify biomolecules at levels ...
https://www.inouyelab.org/home/research
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keywords for innovative science: rookie & diversity
www.nature.com/articles/d41...
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Want to do disruptive science? Include more rookie researchers
Papers from research teams with a substantial number of beginners are highly disruptive and innovative, study shows.
https://www.nature.com/articles/d41586-025-03117-1?WT.ec_id=NATURE-202510
about 2 months ago
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the Trials within Cohort (TwiC) design:
www.jclinepi.com/article/S089...
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about 2 months ago
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bioRxiv Genetics
about 2 months ago
SAFE-LD: A novel method for the estimation of linkage disequilibrium from summary statistics
https://www.biorxiv.org/content/10.1101/2025.09.29.679154v1
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Guido Valverde
about 2 months ago
Why scientists should take more coffee breaks
www.science.org/content/arti...
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Why scientists should take more coffee breaks
Grad students should make time for casual conversations with peers, this Ph.D. student writes
https://www.science.org/content/article/why-scientists-should-take-more-coffee-breaks?utm_campaign=Science&utm_medium=ownedSocial&utm_source=facebook&fbclid=IwY2xjawNKCgJleHRuA2FlbQIxMABicmlkETFXdXJmQldOY0R6TnF5VnlHAR7FRizFBVGQGYF4knZv-c16Gom79JbcViFuCvvMjg7g6m7VewHR_KWGNGYnqA_aem_WWWZk1yJV9llTfZDz92yTA
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Andrea Ganna
about 2 months ago
🧬💥 Do the genetics that make you develop a disease also help you survive it? Not much. Our new study in Nature Genetics including 9 disease and 7 biobanks shows: • Susceptibility variants ≠ survival • PRSs for onset weak at predicting progression • Lifespan PRS predicts survival better
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Karsten Suhre
about 2 months ago
A pretty comprehensive comparison of most actual
#proteomics
platforms: Current landscape of plasma proteomics from technical innovations to biological insights and biomarker discovery
www.nature.com/articles/s42...
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Current landscape of plasma proteomics from technical innovations to biological insights and biomarker discovery - Communications Chemistry
Plasma proteome profiling has surged as a promising avenue for biomarker discovery, yet comprehensive platform comparisons remain scarce. Here, the authors evaluate eight proteomics platforms, revealing key differences and complementary strengths, providing crucial insights for researchers into coverage trade-offs and implicating biomarker discovery and clinical applications.
https://www.nature.com/articles/s42004-025-01665-1
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"ignoring political issues that affect health means ignoring real barriers to care"
www.thelancet.com/journals/lan...
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Gaza's healthocide: medical societies must not stay silent
The catastrophic humanitarian crisis in Gaza, with the apparent deliberate targeting of health-care infrastructure and personnel, has highlighted a profound challenge to the global medical community. ...
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2825%2901735-0/fulltext
about 2 months ago
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Sasha Gusev
3 months ago
I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:
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Beneath the surface of the sum
When genetic interactions matter and when they don't
https://open.substack.com/pub/theinfinitesimal/p/beneath-the-surface-of-the-sum?r=43f9ax&utm_campaign=post&utm_medium=web&showWelcomeOnShare=true
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Lori O'Brien
about 2 months ago
For this
#FluorescenceFriday
, a gorgeous image of an adult mouse kidney labeled with AQP2 and alpha SMA antibodies. AQP2 (green) marks the collecting duct and distal connecting segment while SMA marks the arterial tree. Courtesy of talented postdoc Sarah McLarnon.
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American Statistical Association History of Statistics
2 months ago
#OTD
1876 Edith Abbott b (d 28 Jul 1957) ASA Fellow 1945. One of the 1st F deans in the US, she pioneered statistical methods applied to policy development for welfare, education & protections for immigrants, working women & children
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Nicola Pirastu
2 months ago
The Health Data Science Centre at
@humantechnopole.bsky.social
is looking for an outstanding Postdoc to work on Generative Machine Learning for biomedical data. If you are passionate about ML and real-world health data, this is the position for you! info:
[email protected]
tinyurl.com/5n8yy7xp
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Human Technopole hiring Postdoc in Generative Machine Learning for Biomedical Data in Milan, Lombardy, Italy | LinkedIn
Posted 3:54:30 PM. APPLICATION CLOSING DATE: October 9th 2025Job descriptionHuman Technopole (HT) is an…See this and similar jobs on LinkedIn.
https://tinyurl.com/5n8yy7xp
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Jeffrey Barrett
2 months ago
1. e.g.
pmc.ncbi.nlm.nih.gov/articles/PMC...
2.
jamanetwork.com/journals/jam...
For expert advice on using tylenol during pregnancy:
www.acog.org/clinical/cli...
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Acetaminophen Use in Pregnancy and Neurodevelopmental Outcomes
https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2025/09/acetaminophen-use-in-pregnancy-and-neurodevelopmental-outcomes
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Chris Wallace
2 months ago
In modern datasets, very large sample sizes combined with slight differences in information across SNPs (eg die to imputation) can mislead fine mapping algorithms, and in turn colocalisation.
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Cool method to exploring the
#omnigenic
architecture of complex traits
www.cell.com/ajhg/fulltex...
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Exploring the omnigenic architecture of selected complex traits
Core genes identified for ulcerative colitis, coronary artery disease, and other traits by a multi-modal graph machine-learning pipeline are expressed in disease-relevant tissues. Core genes demonstra...
https://www.cell.com/ajhg/fulltext/S0002-9297%2825%2900276-9
2 months ago
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We often try to put rare genetic diseases & common diseases into context wrt some genetic finding. Here, a helpful review on how rare variants may alter common disease risk & viceversa, how common disease genetic background influence rare/genetic diseases
www.sciencedirect.com/science/arti...
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The rare-to-common disease journey: a winding road to new therapies
The study of genetic variants that cause rare diseases has been a central strategy of genetic research for the last century, but the contribution of r…
https://www.sciencedirect.com/science/article/pii/S0168952525001106?via%3Dihub
2 months ago
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Reviving an often forgotten topic:
#Bias
due to participant overlap in two-sample
#MendelianRandomization
onlinelibrary.wiley.com/doi/10.1002/...
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Bias due to participant overlap in two‐sample Mendelian randomization
Mendelian randomization analyses are often performed using summarized data. The causal estimate from a one-sample analysis (in which data are taken from a single data source) with weak instrumental v...
https://onlinelibrary.wiley.com/doi/10.1002/gepi.21998
2 months ago
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Yun S. Song
2 months ago
We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics.
www.biorxiv.org/content/10.1...
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Meghan Azad, PhD
2 months ago
A Genetic Atlas of the Mammary Gland 🧬🤱🐭 New research from
@geula.bsky.social
& team shows shifts in gene activity across pregnancy → lactation → weaning. This new 'atlas' provides new avenues for studying lactation disorders and breast cancer.
academic.oup.com/nar/article/...
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After publishing its founding paper,
#KidneyGenAfrica
is now ready for its 1st Training Workshop in
#CKD
#genetic
#epidemiology
, dedicated to researchers based in Africa, on Jan 25-30, 2026, in South Africa. More details here
www.kidneygenafrica.org/kidneygenafr...
www.linkedin.com/feed/update/...
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2 months ago
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Konrad
2 months ago
A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank:
www.nature.com/articles/s41...
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects - Nature Genetics
Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse p...
https://www.nature.com/articles/s41588-025-02335-7
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Johannes Rainer
2 months ago
and a preprint with some more info on the
#Spectra
infrastructure and
#SpectriPy
:
doi.org/10.31219/osf...
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OSF
https://doi.org/10.31219/osf.io/cwt2v_v2
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📣3-year bioinformatics position open @ our Institute to work w outstanding
@jorainer.bsky.social
on
#metabolomics
data data data
#rstats
add a skeleton here at some point
2 months ago
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