July 15, 2025, Copenhagen: We are excited to share our latest paper in Frontiers in Genetics: Get ready for short tandem repeats analysis using long reads – the challenges and the state of the art.
Short tandem repeats (STRs) are repetitive DNA sequences that influence genetic diversity and disease susceptibility. Making up ~3% of the human genome, certain STR expansions can disrupt protein synthesis and DNA repair, leading to neurodegenerative and neuromuscular disorders. Traditional short-read sequencing often struggles with STRs due to its limited read length and accuracy. Our paper explores how long-read technologies like Oxford Nanopore and PacBio overcome these challenges—enabling more accurate STR analysis—and highlights current hurdles, bioinformatics workflows, and tools shaping the future of STR genotyping.
At gMendel®, we are redefining early diagnosis through AI-driven, affordable, and scalable screening solutions. We are proud to announce that STR analysis will be integrated in the gMendel® Test for Newborn Screening.
📖 Read the full article:
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1610026/full