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Pragati Kore @pragskore.bsky.social · 06/10/2025

🙌 Huge thanks to the gnomAD team & collaborators — this is a step toward more equitable & clinically useful population frequency resources.

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Pragati Kore @pragskore.bsky.social · 06/10/2025

👆The gnomAD browser is now up and running with LAI data live for both genetic ancestry groups!

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Pragati Kore @pragskore.bsky.social · 06/10/2025

🌐 Explore & download: • Check the new Local Ancestry tab in the gnomAD browser: gnomad.broadinstitute.org • Full LAI VCFs & open-source pipeline: github.com/broadinstitu... 📰 Texas Children’s press release: www.texaschildrens.org/content/news...

texaschildrens.org

Texas Children’s Researchers Create Groundbreaking Tool to Improve Accuracy of Genetic Testing | Texas Children's

Researchers at Texas Children’s Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the a...

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Pragati Kore @pragskore.bsky.social · 06/10/2025

🧪 Why it matters: Traditional allele frequencies can mask ancestry-driven differences in admixed genomes. LAI can help clinicians & researchers: • Refine variant interpretation • Improve carrier & disease prevalence estimates • Identify population-enriched risk variants

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Pragati Kore @pragskore.bsky.social · 06/10/2025

• ~81% of variants with LAI calls now have an updated gnomAD-wide max frequency (grpmax) — changing how some variants are classified. • Variants once below the 5% ACMG BA1 benign threshold can now exceed it in ancestry-specific tracts → stronger evidence to reclassify VUS → Benign.

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Pragati Kore @pragskore.bsky.social · 06/10/2025

🔎 What’s new: • For the first time, gnomAD includes haplotype-level allele frequencies for genetically inferred African/African American (n = 20,250) and Admixed American (n = 7,612) genomes. • ~85% & ~78% of variants differ ≥2× across ancestry tracts, respectively.

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Pragati Kore @pragskore.bsky.social · 06/10/2025

📃 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).

nature.com

Improved allele frequencies in gnomAD through local ancestry inference - Nature Communications

This study incorporates local ancestry into the Genome Aggregation Database (gnomAD) to improve allele frequency estimates for admixed populations, enhancing variant interpretation and enabling more accurate and equitable genomic research and clinical care.

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