Postdoc at @StanfordBioethx Genetics PhD from @StanfordMed, @UArkansas Alumna elsi / rna-seq / rare disease / multi-omics / chronic illness / x-chromosome
Joined August 2014
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How is your genome build choice influencing your RNA-seq results? We saw ~4% of all genes, and ~39% of all quantified genes from six biospecimen types were impacted in one of three ways
📢Online now @AJHGNews!
📰Impact of genome build on RNA-seq interpretation and diagnostics
🧑🤝🧑@raungar @page_goddard @sbmontgom & colleagues
cell.com/ajhg/fulltext/S0002…
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! (thread on 🔵☁️)
Functional impact of rare variants and sex across the X-chromosome and autosomes biorxiv.org/cgi/content/shor… #biorxiv_genomic
A new putative disease gene found due to a transcriptome-first approach! Check out this new paper!
What if one variant can cause splicing outliers transcriptome-wide? Our preprint shows how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover a novel disease-gene relationship! (medrxiv.org/content/10.1101/…)
Rachel Ungar retweeted
🚨 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! 🧬
Had the pleasure of chatting with the amazing @jpflores_31 about our class!
In this episode, I interviewed Dr. Roshni Patel (@RoshniAPatel) & Dr. Rachel Ungar (@raungar), former students (now postdocs!) that developed the course "Introduction to Genetics, Ethics, & Society" @Stanford. I'm so lucky to learn from and know them!
Rachel Ungar retweeted
For many traits there is a correlation between the number of duplications or loss-of-function (LoF) mutations someone carries, and their phenotype. Curiously, for most traits, these effects are aligned in the SAME direction. Why?
Congratulations to my mentee Maggie (Taylor) Maurer, who discovered a new disease gene in her rotation project last year! The critical method for this project was shared with us by co-first author @VGaneshMDPhD and important clinical work was done by coauthor Rodrigo Mendez.
ASHG Trainee Research Excellence Pre-Doctoral Winners -
🏆Lindsay Guare (@Penn)
🏆Taylor Maurer (@Stanford)
🏆Zoi Tsangalidou (@UniofOxford)
Accept their awards at #ASHG24! Congratulations! 🎉
Rachel Ungar retweeted
Join Nov 4th @ClinGenResource for "Ethics & Inclusivity in Genetics Education: Challenges and Paths Forward." Among other things, I'll get to talk about some of the awesome work done by @RoshniAPatel @raungar and team educating genetics trainees in ethics
clinicalgenome.org/tools/anc…
Rachel Ungar retweeted
so fun to be interviewed by an organization I've admired for years! had the chance to brag about the incredible trainee-led work that went into the ethics class led by @raungar + @tgjorgjieva1 + @alvinahere + @daphmarts + me
PGED's #SpotlightSeries on remarkable people ~ Gill met w/ Roshni & Alvina to learn about their proudest projects – including creating & teaching an Introduction to Genetics, Ethics, & Society college course! Read their story: pged.org/2024/10/09/roshni-p….
#PGED #communityspotlight
Rachel Ungar retweeted
Want to aggregate rare variants into a single gene score while capturing diverse functional effects → Check out DeepRVAT, my first paper lead with @brianfclarke now out in @NatureGenet. DeepRVAT scores can be plugged into any testing framework to discover new disease genes.
🧵 1/9 Delighted to announce that #DeepRVAT is out today in Nature Genetics! Here's a recap of our tweetorial from the preprint, with updates for some exciting new results. It's been a joy to work with @Holtkamp_Eva, as well as @gagneurlab and @OliverStegle.
Rachel Ungar retweeted
🧵 Thrilled to share our latest in @Nature! We’ve mapped fetal blood development in Down syndrome (DS) using single-cell multi-omics, studying why children with DS face a 150-fold higher leukemia risk and blood abnormalities at birth.
nature.com/articles/s41586-0…
Rachel Ungar retweeted
Very excited to share our new preprint from the Kirkpatrick and @arbelharpak labs!
Natural selection can act differently on females and males. How frequently does this happen in the human genome?
biorxiv.org/content/10.1101/…
1/n
Rachel Ungar retweeted
What do we mean by diversity in data in genetics, and how should we achieve the benefits it is designed to bring? Piece in Nature Genetics out today, summarizing a new GA4GH policy framework. A thread. rdcu.be/dTpfu
A great browser that includes not just the gene-level results, but also biomarker importance! An example: public.cgr.astrazeneca.com/m… pulse rate is highest predictor of tachycardia. unfortunately does seem some newer ICD codes are missing, but a great resource nevertheless
Thrilled to see our latest research on early disease prediction, biomarker discovery and novel target detection published in @NatureGenet! 🚀 🎉
nature.com/articles/s41588-0…
@AstraZeneca #CGR #MachineLearning #Biomarkers #AI #UKBiobank #HealthcareInnovation #DataScience
First study finding an abundance of sex-biased eQTLs (the lack of sex-biased eQTLs has been a major q in the field). Plus results suggests TFs as a major mechanism for sex differences
What causes differences in biological sex? In our latest preprint, @_AngelaJones takes our lab in a new direction, revealing mechanisms of sex-biased gene expression and identifying abundant sex-biased eQTL throughout the genome (1/6) medrxiv.org/cgi/content/shor…
Rachel Ungar retweeted
For nearly 2 decades, Alzheimer’s disease (AD) “genome-wide” association studies only covered the autosomes. Today we unveil the X chromosome and prioritize SLC9A7, a.k.a. NHE7, as an AD risk gene.
Article: jamanetwork.com/journals/jam…
Editorial: jamanetwork.com/journals/jam…
Rachel Ungar retweeted
In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation.
Now out on medRxiv:
medrxiv.org/content/10.1101/…
I am excited to share that I have started a postdoc at @StanfordBioethx! I am so excited for all the new learning, collaboration, and projects ahead of me!
I would not be here today if I didn't have the chance to create the Genetics, Ethics, and Society class alongside @RoshniAPatel and many others. A note to grad students -- your outreach/advocacy/etc can become so much more!
Rachel Ungar retweeted
1) Just out @Nature today! We show that human TMEFF1 is a restriction factor for #Herpes simplex virus 1(HSV1) in the brain, by limiting NECTIN1—HSV1-gD mediated HSV1 entry into cortical neurons. TMEFF1 defect can underlie HSV1 #encephalitis. nature.com/articles/s41586-0…
