Dr. E. Atkinson @egatkinson.bsky.social et al have developed a new computational method that enables scientists to more accurately identify #geneticChanges linked to #disease. @natgenet.nature.com @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social www.bcm.edu/news/new-app...

Tractor-Mix is now published in @natgenet.nature.com! Led by @doubletaotan.bsky.social, we developed a GWAS method that handles admixture and relatedness together, expanding the range of samples that can be analyzed with local-ancestry resolution. Paper: rdcu.be/fuxCD

Extending genome-wide association studies to admixed cohorts with high degrees of relatedness - Nature Genetics

Tractor-Mix is a GWAS method for admixed cohorts with high relatedness, improving ancestry-specific effect estimation, controlling false positives and boosting power to detect ancestry-enriched loci a...

nature.com

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...

MosaicSim: A Novel Mosaic Variant Simulator Reveals Diminishing Returns of Ultra-High Coverage for Mosaic Variant Detection

Genetic mutations within select cells of a tissue, termed mosaic variants (MV), are being increasingly recognized for their role in human disease. This growing interest underscores the need for specia...

biorxiv.org

A fun lab outing to the zoo ahead of conference season! 🦒

Texas Children's/Baylor College of Medicine Researchers Create Groundbreaking Tool to Improve Accuracy of #GeneticTesting @egatkinson.bsky.social @bcmgenetics.bsky.social @bcmhouston.bsky.social #TCHResearchNews #TexasChildrens @natcomms.nature.com tinyurl.com/jj6kyrrv

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 🧬🖥️

Pragati Kore@pragskore.bsky.social · 10mo ago

📃 We’re excited to share our latest work, now published in Nature Communications — a major update to the Genome Aggregation Database (gnomAD) that improves allele frequency resolution for two gnomAD-defined genetic ancestry groups using local ancestry inference (LAI).

A 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...

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects - Nature Genetics

Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse p...

nature.com

Delighted to amplify my talented PhD student’s work! Check it out for a great way to streamline and harmonize Tractor analyses.

@nirav-shah.bsky.social · 11mo ago

🚨 New preprint! Traditional GWAS often exclude admixed individuals, missing ancestry-enriched genetic signals. We built Tractor Nextflow Workflow - a modular, scalable pipeline that automates phasing, LAI, and Tractor GWAS, alongside comprehensive documentation. Preprint: doi.org/10.1101/2025...

🚨 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:

The American Journal of Human Genetics@ajhgnews.bsky.social · last yr.

📣Online now! 📄Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench 🧑‍💻 @jasminebakerphd.bsky.social @egatkinson.bsky.social & co

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...

Psychiatric genetics in the diverse landscape of Latin American populations - Nature Genetics

Latin America and the Caribbean remain largely underrepresented in psychiatric genetics research. This Review highlights the need for more research in these populations to advance genetic insights and...

nature.com

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! 🧵⬇️

Differential performance of polygenic prediction across traits and populations depending on genotype discovery approach

Polygenic scores (PGS) are widely used for estimating genetic predisposition to complex traits by aggregating the effects of common variants into a single measure. They hold promise in identifying ind...

biorxiv.org

A fun Atkinson lab meeting with 100% membership in person! Exciting to see the whole group together

TODAY! @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!

BCM Department of Molecular and Human Genetics@bcmgenetics.bsky.social · last yr.

In Feb, The American Journal of Human Genetics sat with Jessica Honoratu-Mauer to discuss her recent paper, “Characterizing features affecting local ancestry inference performance in admixed populations.” To read the interview visit www.ashg.org/ajhg/inside-... Congrats Jessica on your publication!

We asked three chairs of PGC Working Groups: what is the goal for their research this year? @niamhmullins.bsky.social, Barbara Franke and @egatkinson.bsky.social #womeninSTEM #InternationalWomensDay2025

Grace Tietz is a Ph.D. student in the Genetics & Genomics Program at Baylor in the lab of Dr. Elizabeth Atkinson's. Grace's primary project aims to improve genetic testing for cardiovascular disease across populations. She was just awarded her F31 from the NHLBI.