Profile avatar
raungar.bsky.social
Postdoc at @StanfordBioethx Genetics PhD @StanfordMed, BS @UArkansas elsi / rna-seq / rare disease / multi-omics / chronic illness / x-chromosome
42 posts 191 followers 225 following
Regular Contributor
Active Commenter
Posts 19 Comments 31

New preprint w/ @soumyakundu.bsky.social @sbmontgom.bsky.social @anshulkundaje.bsky.social ! Using deep learning & scATAC-seq, we studied context-specific variants in disease & evolution, and introduce FLARE for de novo mutations—w/ application to autism-affected families. doi.org/10.1101/2025...

submitted 10 days ago • 0 comments

The Stanford Center for Biomedical Ethics was asked to be the Montgomery Lab's valentine this year via an IRB, and we delightfully approved their request!

submitted 14 days ago • 1 comment

Are you a scientist interested in science communication but don’t know where to start? Ever wonder how a graduate student has time for outreach projects? Check out SCOPE! An org @vangeliqueallen.bsky.social and I created! First panel on creating children’s books and podcasts is today at 1pm ET 😊🧪

submitted 28 days ago • 0 comments

Interested in rare variants, the X-chromosome, sex-differences, pharmacogenetics, or transcription factors? You might be interested in our new manuscript where we identified >700 functional rare variants with a difference in effect by sex in GTEx! bit.ly/x_rv_sex #genomics #multiomics 💻🧬

submitted 36 days ago • 1 comment

What do you mean when you say that you've #shared your #data broadly? @jonathanmoreno.bsky.social and I published a new data sharing framework in @naturegenet.bsky.social along with #bioethics challenges for #genomics in the #ai era. www.nature.com/articles/s41... @pennmedresearch.bsky.social

submitted 38 days ago • 1 comment

If anyone happens to need it this week for...reasons...this is the best graphic on the complexity of human sex determination I've ever seen. I use it in an undergrad course on gene regulatory mechanisms. Shoutout to @unamandita.bsky.social! www.scientificamerican.com/article/beyo...

submitted 38 days ago • 36 comments

The Trump Administration announced an executive order “restoring biological truth to the federal government”. There’s a lot to talk about here, but let's focus on this so-called "biological truth".

submitted 38 days ago • 1 comment

So excited to read this preprint after Maggie's amazing plenary at ASHG. Congrats @maggie-arriaga.bsky.social and team 🥳 A transcriptome first approach identifies pathogenic variants in RNU4ATAC and highlights the RNU6ATAC as a putative new disease gene 🧬🖥️ A 💪 day for snRNA preprints!!

submitted 52 days ago • 0 comments

Our team identified a new putative disease-gene using a transcriptome-first approach! 💻🧬

submitted 52 days ago • 0 comments

🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338 Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬

submitted 71 days ago • 1 comment

What do GWAS and rare variant burden tests discover, and why? Do these studies find the most IMPORTANT genes? If not, how DO they rank genes? Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬) www.biorxiv.org/content/10.1...

submitted 74 days ago • 5 comments

Paper came out this past week! Using MAVEs to reduce variant classification disparities in underrepresented populations and demonstrating AI bias in computational predictors rdcu.be/d2kCn Previous tweetorial: x.com/MoezDawood/s... Previous post by @ee-reh-neh.bsky.social: bsky.app/profile/ee-r...

submitted 83 days ago • 0 comments

It was so fun to chat with the amazing @jpflores.bsky.social about our class, incentives in science, and some of our favorite food!

submitted 100 days ago • 1 comment

This is now published! www.cell.com/cell-genomic...

submitted 105 days ago • 0 comments

It's been a minute since I've been on here, wanted to update that this is now published! www.cell.com/ajhg/fulltex... We saw genome build choice impacting RNA-seq results for ~4% of all genes, and ~39% of all quantified genes from six biospecimen types.

submitted 105 days ago • 0 comments

Congratulations to my mentee Maggie Maurer, an ASHG Trainee Research Excellence Pre-Doctoral Winner. She discovered a new disease gene in her rotation project last year! The critical method for this project was shared with us by collaborator Vijay Ganesh and clinical work was done by Rodrigo Mendez.

submitted 108 days ago • 1 comment

Great online course material, Stanford's GENE 220: Introduction to Genetics, Ethics, and Society from @roshnipatel.bsky.social and @raungar.bsky.social h/t @jpflores.bsky.social stanford-genethics.github.io/index.html

submitted 393 days ago • 0 comments

Have you ever wondered how genome build is impacting your RNA-seq results? I am excited to share our new paper on medRxiv investigating the impact of hg19, hg38, and chm13 on six routinely-collected biospecimens: www.medrxiv.org/content/10.1... (1/8) 🧬💻👩‍💻🧪

submitted 413 days ago • 1 comment

Thread of some really great works out this week in the world of countering naive genetic thinking (e.g. hereditarianism, genetic determinism, scientific racism)

submitted 479 days ago • 1 comment