Deep-learning algorithms enhance mutation detection in cancer and RNA sequencing

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 ...
ascopubs.org

Comparison and performance of three plasma next-generation sequencing assays versus tissue testing for the detection of actionable driver mutations in advanced non-squamous non ...

Comparative genomic landscape of patients with lung cancer with high-load versus low-load Epstein-Barr virus infection. This is an ASCO Meeting Abstract from the 2024 ASCO Annual Meeting I. This ...
Phys.org

Mutations that affect protein stability follow simple math rules, study shows

In a study published in the journal Nature, researchers from the Center for Genomic Regulation (CRG) and the Wellcome Sanger Institute have discovered that mutations affect protein stability following ...
Fred Hutch

Surprising findings about blood cell mutations bode well for transplant recipients

After an allogeneic stem cell transplant, a recipient’s body faces a daunting task: rebuilding the person’s blood-forming and immune systems from the ground up from a relatively small number of “seed” ...
News Medical

How Do Genetic Mutations Cause Disease?

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...