Science Daily6d
Long reads successfully used to find genetic causes of rare diseases
The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...
technologynetworks1mon
Improving Long-Read Next Generation Sequencing: What You Should Know
Long-read, single-molecule DNA sequencing is a foundational method in genomics research, with applications including identifying complex structural variants and analyzing whole chromosomes. However, ...
Long-read sequencing successfully uncovers genetic causes of rare diseases
The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...
EurekAlert!1mon
Combining long- and short-read sequencing in single cells reveals new mRNAs in neurodegenerative diseases
“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 ...
News Medical on MSN10d
Long reads can revolutionize genetic diagnosis of rare diseases
The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces-short reads.
PacBio, Radboud UMC announces study results using HiFi long read sequencing
PacBio (PACB) announced a significant publication from Radboud University Medical Center and its research partners in the American Journal of ...
Business Insider9d
PacBio and Radboud UMC Announce Remarkable Study Results Using HiFi Long Read Sequencing to Help Advance Rare Disease Diagnostics
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 ...
Morningstar9d
PacBio and Radboud UMC Announce Remarkable Study Results Using HiFi Long Read Sequencing to Help Advance Rare Disease Diagnostics
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 ...