Publications by authors named "Gjorgji Madjarov"
Hum Genomics
November 2024
Article Synopsis
- Newborn Screening (NBS) programs in developed countries focus on identifying treatable disorders that are not immediately evident, but many genetic conditions are still excluded due to high costs and specialized testing needs.
- A new tool called SCAN has been developed, which is non-invasive and cost-effective, and uses nanopore sequencing combined with machine learning to estimate chromosomal abnormalities.
- In initial trials, SCAN proved to be highly effective in detecting Klinefelter Syndrome, achieving perfect sensitivity, specificity, and accuracy, and could potentially be adapted to identify other genetic disorders as well.*
