A team at the University of California, Irvine has developed the first genetic reference maps for DNA repeats linked to over 50 fatal diseases.

The UC Irvine Tandem Genome Aggregation Database enables further research on mutation-disease connections, diagnostic advancements, and health disparity understanding.

Published in Cell, the study reveals the UC Irvine TR-gnomAD, filling a significant void in genomic sequencing by providing detailed maps of short DNA repeats.

Analysis of data from 338,963 individuals led to the identification of 0.91 million tandem repeats (TRs), with 0.86 million selected for deeper investigation.

The study discovered that 30.5% of the TRs had two or more prevalent variants due to mutations at the same chromosomal location.

Future plans include expanding the database with more high-quality TRs and covering a wider range of ancestries to enhance personalized medicine.