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 ...
Whole genome analysis plays a critical role in the development of life-saving diagnostics, therapeutics, and vaccines, with growing interest in noncoding regions and Whole genome analysis plays a ...
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 ...
SAVANA uses a machine learning algorithm to identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data. The complex structure of cancer genomes means ...
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 ...
November 20, 2024 – Genome Research (https://genome.org) publishes a special issue highlighting advances in long-read sequencing applications in biology and medicine. In this first of two Special ...
The National Institute on Aging’s Long Life Family Study (LLFS) selected PacBio technology to generate genomic and epigenomic data from as many as 7,800 participants. The effort will rely on PacBio’s ...
PacBio has announced its participation in the 1000 Genomes Long Read Sequencing Project, contributing long-read transcriptome data to enhance this significant human genomics initiative. Through ...
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, ...
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