Rachel Ungar
@raungar.bsky.social
Postdoc at @StanfordBioethx
Genetics PhD @StanfordMed, BS @UArkansas
elsi / rna-seq / rare disease / multi-omics / chronic illness / x-chromosome
Genetics PhD @StanfordMed, BS @UArkansas
elsi / rna-seq / rare disease / multi-omics / chronic illness / x-chromosome
Reposted by Rachel Ungar
This survey was put together by several fellow trainees and friends who are dedicated to the ethical conduct of human genetics research. Tagging some below! @christacaggiano.bsky.social @roshnipatel.bsky.social @raungar.bsky.social @dianexue.bsky.social @jpflores.rbind.io
June 2, 2025 at 5:37 PM
This survey was put together by several fellow trainees and friends who are dedicated to the ethical conduct of human genetics research. Tagging some below! @christacaggiano.bsky.social @roshnipatel.bsky.social @raungar.bsky.social @dianexue.bsky.social @jpflores.rbind.io
This was the first project I started when I joined the Montgomery lab over five years ago, and I really grew up scientifically with this project. I am extra lucky that Stephen developed this project specifically with my personal scientific interests in mind.
January 24, 2025 at 4:07 PM
This was the first project I started when I joined the Montgomery lab over five years ago, and I really grew up scientifically with this project. I am extra lucky that Stephen developed this project specifically with my personal scientific interests in mind.
Many thanks to my second author Taibo Li, who was wonderful to work with and even helped finish this project even after returning to the MD side of his MD-PhD. I am also grateful for the mentorship of @sbmontgom.bsky.social throughout this project.
January 24, 2025 at 4:04 PM
Many thanks to my second author Taibo Li, who was wonderful to work with and even helped finish this project even after returning to the MD side of his MD-PhD. I am also grateful for the mentorship of @sbmontgom.bsky.social throughout this project.
We saw that many of these sex-biased variants were enriched for being in motifs that recruited transcription factors with known sex biases.
January 24, 2025 at 4:02 PM
We saw that many of these sex-biased variants were enriched for being in motifs that recruited transcription factors with known sex biases.
We show these sex-biased variants are enriched for being in pharmacogenes with adverse-drug reactions, including those with known sex-biased adverse drug reactions. To my knowledge no study had previously looked at pharmacogenetic implications of sex-biased rare variants.
January 24, 2025 at 4:01 PM
We show these sex-biased variants are enriched for being in pharmacogenes with adverse-drug reactions, including those with known sex-biased adverse drug reactions. To my knowledge no study had previously looked at pharmacogenetic implications of sex-biased rare variants.
Sex differences are often overstated, so I want to be clear. Males and females are more similar than they are different. We identified just 0.04% of total rare variants to have a difference by sex.
January 24, 2025 at 4:01 PM
Sex differences are often overstated, so I want to be clear. Males and females are more similar than they are different. We identified just 0.04% of total rare variants to have a difference by sex.
We (Taibo Li) then trained a Bayesian model to predict variants with different functional effects by sex. We identified 753 variants with a predicted sex bias across 464 genes.
January 24, 2025 at 4:00 PM
We (Taibo Li) then trained a Bayesian model to predict variants with different functional effects by sex. We identified 753 variants with a predicted sex bias across 464 genes.
We then wanted to understand the functional impact of rare variants, both with and without sex-stratification. In males, but not females, we found that rare variants had a stronger functional impact when on the X-chromosome as compared to the autosomes.
January 24, 2025 at 4:00 PM
We then wanted to understand the functional impact of rare variants, both with and without sex-stratification. In males, but not females, we found that rare variants had a stronger functional impact when on the X-chromosome as compared to the autosomes.
This project actually started as one trying to understand the impact of sex-stratification on expression outlier discovery. We saw a small change (0.1-0.2% genes changed outlier status), but one that indicated a reduction in false outliers.
January 24, 2025 at 4:00 PM
This project actually started as one trying to understand the impact of sex-stratification on expression outlier discovery. We saw a small change (0.1-0.2% genes changed outlier status), but one that indicated a reduction in false outliers.