elezzx.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

I have been amazed that my advisors can spot the tiniest extra space between two words in the doc. Now I can see it too, like right there lol.

submitted 2 days ago • 0 comments

Reminder to folks in genetics/genomics, HGG Advances is a wonderful open-access journal to publish your work in. Consider submitting your latest and greatest with us! :D

submitted 8 days ago • 0 comments

📣 🥳 🧑‍💻 Our department is hiring: Tenure-Track Assistant Professor / Associate Professor in Bioinformatics at Aarhus University, Denmark Deadline June 1st Thanks for sharing! mbg.au.dk/en/news-and-...

submitted 14 days ago • 0 comments

It's that time of the year again: ASHG Abstracts! ASHG has always provided an excellent avenue to present novel methods in StatGen and GenEpi, get early feedback, and meet your colleagues! Deadline is June 9th, so still plenty of time :D Link below 👇 www.ashg.org/meetings/202...

submitted 14 days ago • 0 comments

Congratulations to Malone Center affiliate member @stephaniehicks.bsky.social on this distinction from @amstatnews.bsky.social!

submitted 21 days ago • 2 comments

Super excited to share my latest preprint with @klohmueller.bsky.social! Here we leverage the unique signature that recessive deleterious variants can lead to an increase in archaic ancestry to tackle a classic question - the dominance distribution on the human genome www.biorxiv.org/content/10.1...

submitted 21 days ago • 2 comments

👇

submitted 22 days ago • 0 comments

I hope to see you at ProbGen 2026 on March 25th-28th! I expect a wonderful meeting as always!

submitted 22 days ago • 0 comments

1/n 🚨Very excited to share our recent work!🚨 To understand gene regulation across diverse environmental conditions and cellular contexts, we treated a broad array of human cell types with three environmental exposures in vitro. www.biorxiv.org/content/10.1...

submitted 24 days ago • 3 comments

Multitasking is a disaster

submitted 24 days ago • 0 comments

Big news for health data research and population diversity: The Mexico City Prospective Study data are now available securely to approved researchers worldwide. www.ndph.ox.ac.uk/news/latin-a... Cohort description: www.ctsu.ox.ac.uk/research/pro...

submitted 28 days ago • 2 comments

Looking forward to presenting at the Cell Symposia: Precision genomics for human health in San Diego, September 11–13, 2025. For a chance to present your research at this event, submit an abstract before May 30 here: www.cell-symposia.com/precision-ge... #CSPrecisionGen25 See you in San Diego!

submitted 28 days ago • 0 comments

Mfw my PhD advisor fixed a major bug, which itself solves a minor bug that is completely independent (I think) @nmancuso.bsky.social

submitted 29 days ago • 1 comment

Amidst all the terrible and terrifying news, so lovely to hear of @jkpritch.bsky.social's election to the National Academy of Sciences. Congratulations!

submitted 30 days ago • 3 comments

Posting on behalf of Shamil Sunyaev: Eimear(Vice Chair) and I (Chair) are organizing the 2025 Gordon Research Conference (GRC) on Human Genetics and Genomics, which will be held on July 6-11, 2025 in beautiful University of Southern Maine, Portland, Maine.

submitted 35 days ago • 3 comments

I am recruiting a quantitative/computational postdoc to my group at UCLA. This is a great opportunity to work on foundational theory, methods, and software in statistical genetics. Link to apply: recruit.apo.ucla.edu/JPF10275. Please repost!

submitted 31 days ago • 0 comments

Type 1 diabetes (T1D) and other autoimmune diseases often co-occur in families. Leveraging data from 12.6K genotyped trios in @finngen.bsky.social, our work - online today in Cell Genomics - studied the transmission of parental autoimmune diseases on T1D in offspring. www.cell.com/cell-genomic...

submitted 34 days ago • 1 comment

Excited to share our MPAC preprint, a scalable ensemble of ML models for genome-wide non-coding variant effect prediction and our findings from 575M predictions across databases including @ukbiobank.bsky.social, GTEx, ClinVar, COSMIC, and @gnomad-project.bsky.social www.biorxiv.org/content/10.1...

submitted 36 days ago • 2 comments

a quick note on my paper with @jeffspence.bsky.social and @jkpritch.bsky.social on conditional frequency spectra, now out in a @genetics-gsa.bsky.social special issue: doi.org/10.1093/genetics/iyae210

submitted 41 days ago • 3 comments

Incredible GRC Genetics and Genomics conference line-up this year in Portland, Maine (www.grc.org/human-geneti...). With conference-maxxing sessions that run to 9:30pm! Submission deadline is June 8th, conference July 6-11th.

submitted 41 days ago • 2 comments

Our new paper is out today in AJHG! We applied a "footprinting" algorithm to ATAC-seq data from 170 livers to find non-coding variants associated with TF binding. We show that these "footprint QTLs" (#fpQTLs) can fine-map GWAS loci at base-pair resolution. www.cell.com/ajhg/fulltex...

submitted 42 days ago • 1 comment

@maxdudek.bsky.social applied a deep learning algorithm to ATAC-seq from 170 livers to measure TF binding at non-coding variants. We show "footprint QTLs" (#fpQTLs) can fine-map causal variants. @ajhgnews.bsky.social @penngenetics.bsky.social @chopresearch.bsky.social www.cell.com/ajhg/abstrac...

submitted 42 days ago • 3 comments

Re-posting given recent adds go.bsky.app/9asWtuD

submitted 165 days ago • 1 comment

Our April issue is online! Catch up with the latest human #genetics & #genomics research www.cell.com/hgg-advances...

submitted 49 days ago • 0 comments

Aneuploidy is the leading cause of pregnancy loss. In work led by @saracarioscia.bsky.social and @aabiddanda.bsky.social, we reanalyzed genetic testing data from 139,416 IVF embryos to discover variants associated with recombination phenotypes and aneuploidy risk. www.medrxiv.org/content/10.1...

submitted 52 days ago • 1 comment

📢 new preprint alert: So so excited to share our analysis on the impact of common and rare variants on single-cell gene expression in blood, using WGS and scRNA-seq data from nearly 2,000 individuals and 5.4m cells as part of TenK10K phase 1 🧬 www.medrxiv.org/content/10.1... 🧵👇 (1/n)

submitted 67 days ago • 3 comments

23andMe declared bankruptcy and the company is gonna be sold off for parts. That includes your DNA information and the only amount of control you have is to delete your info immediately. It’s very simple to do. Gift link: wapo.st/4kUsBEF

submitted 66 days ago • 18 comments

Before ARGs, there were pedigrees Pedigrees have long been a powerful computational tool in quantitative genetics. We developed randPedPCA (randomized pedigree PCA) that can deliver principal components of millions of individuals in less than 30 seconds. www.biorxiv.org/content/10.1... (1/n)

submitted 72 days ago • 1 comment

Indexing in Python is real evil

submitted 72 days ago • 0 comments

Tomorrow is the last day to apply to the Leena Peltonen School of Human Genomics summer program (Wellcome Campus, UK) for scientists nearing the completion of their PhD. 1:1 mentorship from many fantastic tutors! lpshg.com/how-to-apply/

submitted 84 days ago • 0 comments

📣Excited to share my last postdoc paper with @soumya-boston.bsky.social on eQTL mechanisms depending on where the RNA is in the cell! @broadinstitute.org @harvardmed.bsky.social TL;DR:Early RNA eQTL variants in the nucleus and late RNA eQTL variants in the cytosol have distinct molecular mechanism🧵

submitted 92 days ago • 2 comments

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 101 days ago • 1 comment

PennPRS: a centralized cloud computing platform for efficient polygenic risk score training in precision medicine https://www.medrxiv.org/content/10.1101/2025.02.07.25321875v1

submitted 108 days ago • 0 comments

New year new start! My group has moved to the Dept of Biosystems Science and Engineering in ETH Zurich - very excited to work with new colleagues here! We’re also hiring soon, if interested in a PhD/postdoc in quantitative genetics and genomics, esp with focus in psych disorders, pls get in touch!

submitted 114 days ago • 3 comments

Excited to present our work on developing jaxQTL, a fast single-cell eQTL mapping tool that improves power and robustness in identifying sc-eQTLs using count-based models. See details in threads 🧵 www.medrxiv.org/content/10.1...

submitted 122 days ago • 1 comment

Work by PhD student @jayatirsharma.bsky.social on how grouping Hispanic/Latino participants into a single group can obfuscate substantial substructure, leading to false conclusions. We show how heterogeneity by background group wrt genetic ancestry and environment can affect genetic risk models.

submitted 178 days ago • 0 comments