Researchers develop first genetic maps for disease-linked DNA repeats

The University of California, Irvine research team has created the first genetic reference maps for short DNA repeats linked to over 50 fatal diseases. The UC Irvine Tandem Genome Aggregation Database allows researchers to study the connection between these mutations, known as tandem repeat expansions, and diseases like ALS and cancer. Published in Cell, the study introduces the UC Irvine TR-gnomAD, addressing the lack of understanding in current genome sequencing efforts. By analyzing data from nearly 339,000 participants, the team identified over 900,000 high-quality repeats, with plans to include more diverse ancestries for personalized precision medicine.

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