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shaicarmi.bsky.social
Associate professor at the Hebrew University of Jerusalem. Statistical, population, and medical genetics; preimplantation genetic testing. Views my own. http://scarmilab.org
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Key reads from last week on human genetics, multiomics, and precision medicine 🧵 1⃣New e/sQTL resource from TOPMed In 14,324 whole blood & tissue samples the study detects cis- and trans-e/sQTLs and colocalizes them with 10,000 GWAS signals for 164 traits. 🔗 www.medrxiv.org/content/10.1...

submitted 3 days ago • 1 comment

Happy to share a new preprint, to which I provided a minor contribution. Using genetic data from ~100k human embryos, we found ~1k that were haploid or triploid. We describe a thorough characterization of these embryos, with many interesting findings 🧵 1/9 www.biorxiv.org/content/10.1...

submitted 9 days ago • 1 comment

Excited to share a couple of new items (links below): 1. Our work on gene-environment interactions in the UKBiobank is up at the American Journal of Human Genetics 2. Our work on modeling ancient human population size history is up at Molecular Biology and Evolution

submitted 10 days ago • 1 comment

Hello BlueSky evolutionary biology community - I'm new here. What a horribly exciting time to join! After about 4 years at Embark Veterinary, I’m looking for my next position. Aiming to stay within population genetics, ideally as a staff scientist or programmer.

submitted 16 days ago • 1 comment

Long but very interesting read on the junk science behind DNA-based face prediction for forensic purposes. Parabon nanolabs is famous for solving hundreds of cold cases using forensic genetic genealogy and advancing the science behind the technique. But... theintercept.com/2025/02/02/f...

submitted 17 days ago • 1 comment

Come and join our research lab at @mcgill University as a Research Associate! If you're excited about using genomics and other omics to understand causes of disease, send me a direct message or check out the position here: www.mcgill.ca/genepi/oppor...

submitted 19 days ago • 0 comments

Our review on the genomics of rare disease in the Greater Middle East is out this week in @naturegenet.bsky.social www.nature.com/articles/s41...

submitted 21 days ago • 1 comment

A very good short explainer by Iosif on the new Nature papers on the origin of Indo-European languages. Helps make sense of the results and their implications.

submitted 21 days ago • 1 comment

Genome-wide associations spanning 194 in-hospital drug dosage change phenotypes highlight diverse genetic backgrounds in concurrent drug therapy https://www.medrxiv.org/content/10.1101/2025.02.04.25321575v1

submitted 21 days ago • 0 comments

Delighted to have part of Ashwini's PhD work published in the EJHG! Here Ashwini drills down into our earlier fine-scale structure work to look at the relative signals of isolation across Ireland and Britain www.nature.com/articles/s41... [1]

submitted 22 days ago • 1 comment

A SNP Foundation Model: Application in Whole-Genome Haplotype Phasing and Genotype Imputation www.biorxiv.org/content/10.1...

submitted 24 days ago • 0 comments

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank www.medrxiv.org/content/10.1...

submitted 24 days ago • 1 comment

Mendelian randomization (MR) has been criticized due to a flood of papers based on the output of a single R command. But MR can offer valuable insights into disease etiology and can be really fun Some interesting MR applications in examples from our work over the years 🧵 1/17

submitted 25 days ago • 1 comment

We have two new PDRA positions for folks interested in working on the intersection of stats gen and neurodevelopmental research. Will be based in Cambridge, working closely with @hilarycmartin.bsky.social. Funded until Jan 2027. Deadline: 16 February. here:https://www.jobs.cam.ac.uk/job/50147/

submitted 27 days ago • 0 comments

Fascinating new study by Lara Cassidy and Colleagues on a South British Iron Age burial site with an extraordinary matrilocal relatedness pattern (www.nature.com/articles/s41... 1/6

submitted 27 days ago • 2 comments