Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.
UC Santa Cruz researchers showcase how long-read sequencing can diagnose rare genetic diseases in days instead of years.
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
Ph.D. student Shloka Negi analyzes long-read sequencing data in the UC Santa Cruz Computational Genomics lab.
Key Findings Enabled by PacBio Technology: Synchronized Multiomic Sequencing: For the first time, a single sequencing run provided simultaneous insights into genome, methylome, epigenome, and ...