Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis. Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS ...
Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.
Nagpur: The samples of two city kids are now being sent to the National Institute of Virology (NIV) Pune for whole genome sequencing, the results of which are likely to take a longer period.