In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...

April 14, 2025 – Genome Research (https://genome.org) publishes a second special issue highlighting advances in long-read sequencing applications in biology and medicine. In this second Special Issue, ...

Long-read sequencing technologies analyse long, continuous stretches of DNA. These methods have the potential to improve researchers’ ability to detect complex genetic alterations in cancer genomes.

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully employed an algorithm to identify ...

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 ...

A whole-genome sequencing approach shows early promise over current commercial methods for identifying more patients likely to benefit from PARP inhibitor cancer treatments, according to a study led ...

Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed a new machine learning method called SAVANA that significantly reduces sequencing errors for cancer genomes. Long-read ...