Rare diseases (RD) are more common than you might think. For every 20 people you know, one is likely affected by a rare disease. Of the 7,000 known RD conditions, 80% have a genetic origin, yet over ...

A recent study found that strict adherence to high-throughput sequencing (HTS) technology-based carrier screening in pre-conceptional or early pregnancy stage, along with complete follow-up and ...

BGI Genomics and Partner demonstrated the high efficiency of High-Throughput Sequencing (HTS) in preventing severe thalassemia birth defects. The findings were published in the Journal of Genetics and ...