Rachel Ungar
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raungar.bsky.social
Rachel Ungar
@raungar.bsky.social
Postdoc at @StanfordBioethx
Genetics PhD @StanfordMed, BS @UArkansas
elsi / rna-seq / rare disease / multi-omics / chronic illness / x-chromosome
Are you an early-career researcher working on the computational analysis of population-level human genetics data? We want to hear from you about if, how, and why you use population descriptors in your research! Fill out our short survey: forms.gle/SCiNUq71wgi5... 🧬💻🧪
June 2, 2025 at 10:02 PM
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!
February 14, 2025 at 9:32 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.
January 24, 2025 at 4:00 PM
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.
November 13, 2024 at 3:51 AM
We then investigate how build impacts detection of outliers. Most outlier status is consistent between builds, but we do see that the amount gene’s quantification changes between builds is correlated with the average z-score change. (4/8)
January 12, 2024 at 10:12 PM
For this framework, we identify differences between the hg19 and hg38 build (hg19:hg38) and hg38 and chm13 build (hg38:chm13). Across numerous metrics, we see that the hg38:chm13 comparisons display more differences than the hg19:hg38 comparisons. (3/8)
January 12, 2024 at 10:12 PM
As a framework, we identify three ways in which build can impact results. This can be due to (1) a gene is only annotated in a given build, or a gene is annotated in both builds but (2) quantified at different levels between the builds, or (3) quantified in only one of builds. (2/8)
January 12, 2024 at 10:11 PM