A new study demonstrates that long-read sequencing can drastically improve diagnosis for rare genetic diseases, cutting what often takes years of testing down to just days. Traditional genetic tests rely on short-read sequencing, which misses many regions of the genome, especially those with structural variants or complex sequences. With long-read sequencing, researchers uncovered additional genetic variants and epigenetic signals that were invisible before.
This matters because roughly 1 in 10 people worldwide are affected by rare genetic conditions, but about half remain undiagnosed even with current technologies. By making testing faster, more comprehensive, and more affordable, long-read sequencing could finally bring an answer (and potentially proper care) to many families who’ve waited for years without a diagnosis.
The related development, a new method called SDR-seq, goes even further by reading both DNA and RNA from the same single cell. This ability to link non-coding regions (which regulate gene activity) to actual gene expression gives scientists a richer, more functional view of genome variation. That means not only can we detect “what’s different” in someone’s genome, but also “what that difference actually does” inside cells, a major leap in understanding complex genetic diseases.
Taken together, these advances could reshape genetic diagnostics. Instead of a fragmented puzzle solved over months or years, doctors might soon have powerful “one-test” tools that deliver rapid and accurate results. For patients and families coping with rare diseases, that kind of clarity can make all the difference.
Main Article: https://www.sciencedaily.com/releases/2025/01/250124151012.htm
2nd article: https://www.sciencedaily.com/releases/2025/10/251016223110.htm
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