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 accuracy of genetic testing – a breakthrough with direct implications for patient diagnoses and care worldwide.
The work, published in Nature Communications, applies a method called local ancestry inference (LAI), which breaks the genome into ancestry-specific segments to provide more accurate insights into genetic differences.
“This research updates our genomic resources to better reflect the full spectrum of genetic variation,” said Dr. Elizabeth Atkinson, Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine and principal investigator at the NRI at Texas Children’s. “By refining allele frequency estimates for admixed populations, we can improve the accuracy of genetic diagnoses and reduce the risk of misclassification — ultimately benefitting patients across all backgrounds.”
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