Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis ... “To solve these cases, we developed a new pangenomic tool that integrates new high-quality assemblies like the ...

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 ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days — in a single test and at a much lower cost.

One PWS case with a previously unresolved diagnosis subtyped as maternal isodisomy. This work highlights the application of long-read sequencing and other imprinted regions outside of the PWS/AS ...

Nanopore sequencing, a single-molecule long-read sequencing technology, was first independently proposed by Deamer, Branton, and Church (Pennisi, 2012), and rapid and great improvements in this ...

Long-read sequencing also provides direct phasing data as well as information about methylation ... "To solve these cases, we developed a new pangenomic tool that integrates new high-quality ...

Dr. Aaron Wenger tells us about SPRQ chemistry, highlighting its unique benefits and role in expanding our understanding of rare diseases.

Discover the top genomics startups revolutionizing genome sequencing technologies to enhance disease prevention and treatment ...

MENLO PARK, Calif., Jan. 14, 2025 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading provider of highly accurate long-read sequencing solutions, announced a significant publication from Radboud ...