Elizabeth Atkinson
Population and statistical genomicist working to make genomics fully representative. Views are my own. (she/her)
- We are pleased to share our new preprint introducing MosaicSim, a framework for generating realistic mosaic variants! Mosaic variants - mutations present in only a subset of cells - are crucial for development, disease, and cancer, but are notoriously hard to call. www.biorxiv.org/content/10.6...
- Detecting mosaic variants is challenging due to low VAFs and real sequencing noise. MosaicSim layers user-defined variants directly onto empirical WGS data, preserving true read-level properties while providing a controlled ground-truth set for benchmarking.
- A fun lab outing to the zoo ahead of conference season! 🦒
- Reposted by Elizabeth Atkinson[Not loaded yet]
- Thrilled to share our new @natcomms.nature.com paper on local ancestry informed allele frequencies in gnomAD, which are live now on the browser! Check out my stellar PhD student @pragskore.bsky.social’s Bluetorial on how this brings finer detail to variant interpretation 🧬🖥️
- Reposted by Elizabeth AtkinsonA project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...
- Delighted to amplify my talented PhD student’s work! Check it out for a great way to streamline and harmonize Tractor analyses.
- 🚨 New perspective piece in @ajhgnews.bsky.social! 🚨 We developed a hands-on training resource for large-scale genomic data analysis in the All of Us Researcher Workbench, now published here:
- Access to big genomic data is growing, but parallel access to skills needed to use it hasn’t kept up. We created an accessible, cloud-based genomic analysis training bootcamp using real All of Us data, Jupyter notebooks, and the Hail framework to lower the barrier for early-career researchers.
- We're excited to introduce Tractor-Mix, our new method for GWAS in admixed cohorts with relatedness, led by the fantastic @doubletaotan.bsky.social! Read the full preprint here: www.medrxiv.org/content/10.1... Thanks to all our amazing collaborators who helped make this work possible!
- Check out my stellar PhD student, Pragati's talk on our work generating local ancestry informed frequency estimates in gnomAD as part of the prestigious Emerging Genomic Scientist Symposium next week! Congrats on being selected for this amazing event!
- I'm delighted to be part of this symposium, put on by University of Pennsylvania Perelman School of Medicine, and led by @bpasaniuc.bsky.social and @sarahtishkoff.bsky.social. See you in a few weeks! upenn.co1.qualtrics.com/jfe/form/SV_...
- 📃 I am excited to share our @naturegenet.bsky.social review paper on the state of psychiatric genetics in Latin America, put forth by the Latin American Genomics Consortium (LAGC)! 🎉 www.nature.com/articles/s41...
- www.biorxiv.org/content/10.1... 📄 New preprint alert! 📄 @helenyslin.bsky.social benchmarked polygenic scores (PGS) using genotyping arrays vs whole-genome sequencing (WGS) across traits & populations in @AllofUsResearch. What’s the best approach? The answer is… it depends! 🧵⬇️
- 1/ Background: PGS are widely used to estimate genetic predisposition to complex traits. However, the choice of genotype discovery approach (arrays vs. WGS) could have important implications for predictive performance, portability, and computational efficiency.
- A fun Atkinson lab meeting with 100% membership in person! Exciting to see the whole group together
- Reposted by Elizabeth AtkinsonTODAY! @standupforscience.bsky.social is taking place in DC & across the U.S. to help protect the American scientific enterprise & defend science as a public good that drives social, political, & economic progress. Find your local site: buff.ly/3EWhSZM #scienceforall #advocacy 1/2🧵
- So proud of my amazing lab member @jhmauer.bsky.social being featured by AJHG for this fantastic work!
