Our latest research is out today on ‪@medrxivpreprint.bsky.social: www.medrxiv.org/content/10.1... Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk. Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n

Nature research paper: Whole-genome sequencing of 490,640 UK Biobank participants go.nature.com/46EtTyW

Excited to share a new preprint from the lab with @ryandhindsa.bsky.social ! www.biorxiv.org/content/10.1... Led by @sherrynyeo.bsky.social, @erinmayc.bsky.social, and friends, we continue our journey to find viral DNA in our favorite place-- the overlooked and discarded reads in existing data! 1/

Neuron programming! Pro-neural TFs + 480 morphogen conditions + scRNA-seq --> Diverse iN subtypes of forebrain, midbrain, hindbrain, spinal cord, and PNS. @hsiuchuanlin.bsky.social‬ @jasperjanssens.bsky.social‬ and Treutlein Lab! @science.org www.science.org/doi/10.1126/... #NGN2 #ASCL1

Drop by poster B0008 today to learn about genetic risk factors for retinal detachment! We found that variants in VSX2 were associated with an increased risk of retinal detachment in the UK Biobank. Shout out to my PIs Ben Frankfort and @ryandhindsa.bsky.social! @arvoinfo.bsky.social #visionscience

It’s out! The first paper from my postdoc – and first from the @bhadurilab.bsky.social – is now live @natneuro.nature.com . 🧠✨ Using a new meta-atlas generation strategy, we identified functional gene networks that more fully explain how cell types are formed in the human cortex. (1/13)

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...

🚨 We’re hiring postdocs! Join our lab in Houston to study human disease using stem cell models, functional genomics, and big genomic data. Wet & dry lab backgrounds welcome. Please email me if you're interested ([email protected]) or apply directly: jobs.bcm.edu/job/Postdoct... 📩

Excited to share our latest study published in @naturecomms.bsky.social! We demonstrate that broad ancestral representation dramatically improves our ability to detect disease-associated regions of the genome. Outstanding work was led by @alexander-han.bsky.social www.nature.com/articles/s41...

Our paper describing ITSN1 as a novel risk gene for Parkinson’s disease was published in @cp-cellreports.bsky.social today! We found that rare loss-of-function variants in ITSN1 increase Parkinson's disease risk by 10-fold www.cell.com/cell-reports...

Dr. @ryandhindsa.bsky.social et al linked variants in the gene #ITSN1 to a significantly elevated risk of #ParkinsonsDisease, paving a new way for treatments. @cellpress.bsky.social @bcmhouston.bsky.social #DuncanNRI @astrazeneca.bsky.social www.bcm.edu/news/itsn1-g...

Now online! Safeguarding the future of biomedical science in the United States

I'm very happy to share our latest work with Seth Berger and the UCI-GREGoR team. Using long-read sequencing, we can detect de novo variants *without* sequencing both parents. We call our method duoNovo. preprint: www.medrxiv.org/content/10.1... R package: github.com/sbergercnmc/... (1/n)

We have 8 days and we need to raise at LEAST $60,000 for a successful #StandUpforScience2025 These funds will go to: the DC rally, covering costs of local rally sites (e.g., insurance!), and setting up @standupforscience.bsky.social for March 8th and beyond! Our work only begins on March 7th!

Had a lot of fun teaming up with my younger brother and collaborators @bcmfromthelabs.bsky.social and @astrazeneca.bsky.social on this paper! We trained ML models that predict genes linked to dominant and recessive neurodevelopmental disorders @ajhgnews.bsky.social www.cell.com/ajhg/abstrac...

#AI approach accelerates the identification of #genes contributing to neurodevelopmental conditions such as #autismSpectrumDisorder, #epilepsy & #developmentalDelay. @ryandhindsa.bsky.social awzoghbi et al. #AJHG @bcmhouston.bsky.social @bcmgenetics.bsky.social #DuncanNRI www.bcm.edu/news/ai-acce...

📣 New from @ryandhindsa.bsky.social & co! 📄Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes

Excited to share our latest pre-print, in which we show that greater genetic diversity, rather than sample size alone, improving the accuracy of genetic intolerance metrics www.biorxiv.org/content/10.1...