GEN13d
Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis
Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.
Long-read sequencing revolutionizes diagnosis of rare diseases
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.