Pragati Kore
@pragskore.bsky.social
Statistical Genetics PhD student @ Baylor College of Medicine | Researcher @ Broad Institute of MIT and Harvard | Views are my own. (she/her)
🙌 Huge thanks to the gnomAD team & collaborators — this is a step toward more equitable & clinically useful population frequency resources.
October 6, 2025 at 6:45 PM
🙌 Huge thanks to the gnomAD team & collaborators — this is a step toward more equitable & clinically useful population frequency resources.
👆The gnomAD browser is now up and running with LAI data live for both genetic ancestry groups!
October 6, 2025 at 6:45 PM
👆The gnomAD browser is now up and running with LAI data live for both genetic ancestry groups!
🌐 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...
• 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...
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...
www.texaschildrens.org
October 6, 2025 at 6:31 PM
🌐 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...
• 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...
🧪 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
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
October 6, 2025 at 6:31 PM
🧪 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
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
• ~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.
• Variants once below the 5% ACMG BA1 benign threshold can now exceed it in ancestry-specific tracts → stronger evidence to reclassify VUS → Benign.
October 6, 2025 at 6:31 PM
• ~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.
• Variants once below the 5% ACMG BA1 benign threshold can now exceed it in ancestry-specific tracts → stronger evidence to reclassify VUS → Benign.
🔎 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.
• 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.
October 6, 2025 at 6:31 PM
🔎 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.
• 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.