BioTechniques10 天
Long-read sequencing expedites rare disease diagnoses
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 ...
GEN13 天
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.
来自MSN13 天
Long-Read Sequencing Brings New Hope for Rare Disease Diagnosis and Treatment
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
technologynetworks14 天
Long Read Sequencing Speeds Up Rare Disease Diagnosis
UC Santa Cruz researchers showcase how long-read sequencing can diagnose rare genetic diseases in days instead of years.
Long read sequencing reveals more genetic information while cutting time and cost of rare ...
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.
jmg.bmj7 天
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
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 ...
Armed robbery in Revesby16 天
Long-Read Sequencing Boosts Rare Disease Diagnosis
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 ...
labiotech10 天
Seven genome sequencing companies to look out for
Discover the top genomics startups revolutionizing genome sequencing technologies to enhance disease prevention and treatment ...
Yahoo Finance26 天
PacBio and Radboud UMC Announce Remarkable Study Results Using HiFi Long Read Sequencing to ...
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 ...
PacBio Technology Powers Landmark Multiomic Study Published in Nature Genetics
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 ...