One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
MENLO PARK, Calif., Jan. 13, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today celebrated long-read sequencing being named ...
Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...
Researchers from the Faculty of Engineering at The University of Hong Kong (HKU) have developed two innovative deep-learning algorithms, ClairS-TO and Clair3-RNA, that significantly advance genetic ...
Chong’s study, “Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak,” was recently published in Nature Communications. UAB researchers have developed a ...
Saliva is an easily accessible source of high molecular weight DNA for Oxford Nanopore long-read sequencing applications.
Powered by GeneDx Infinity™ with unparalleled scale and diversity, GeneDx fuels breakthrough scientific research and delivers the most precise rare disease diagnosis for patients and families “GeneDx ...
Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis. Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS ...
Pacific Biosciences of California, Inc. PACB, popularly known as PacBio, recently announced that its HiFi whole-genome ...
Researchers are now exploring how to best extract and use saliva-derived DNA for long-read sequencing applications. Download ...