“Today, the diagnostic yield of genetic sequencing is frustratingly low,” Paten said. “One likely cause is the incomplete sequencing methods used in clinical practice. In this work, we test the ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to ...

Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.

The study demonstrates the impact of PacBio’s HiFi long-read sequencing technology in identifying genetic causes of rare diseases, illustrating the feasibility of potentially replacing multiple ...

Ph.D. student Shloka Negi analyzes long-read sequencing data in the UC Santa Cruz Computational Genomics lab.

The study demonstrates the impact of PacBio’s HiFi long-read sequencing technology in identifying ... of potentially replacing multiple diagnostic tests with a single, more comprehensive approach.

HiFi sequencing results from these samples ... adoption as the preferred method for rare disease diagnostics. The study, HiFi long-read genomes for difficult-to-detect, clinically relevant ...

“Short-read sequencing struggles with certain kinds of sequence variants, so to better capture these, we also used long-read sequencing that reads between 5,000 and 30,000 base pairs at a time ...