Browsing Tag
Mutation
30 posts
Genetic links between ovarian ageing, cancer risk and de novo mutation rates
UK Biobank data processing and quality control To conduct the rare variant burden analyses described in this study,…
DNA mismatch and damage patterns revealed by single-molecule sequencing
Mustjoki, S. & Young, N. S. Somatic mutations in “benign” disease. N. Engl. J. Med. 384, 2039–2052 (2021).…
New tARC-seq method enhances precision in tracking SARS-CoV-2 mutations
In a recent study published in Nature Microbiology, researchers developed a targeted accurate ribonucleic acid (RNA) consensus sequencing…
Study discovers hidden mechanism behind rapid COVID variants
The SARS-CoV-2 virus that causes COVID has the unsettling ability of often generating variants of itself. Other viruses…
Exploring how gene variants affect brain cells in children with severe epilepsy
Epilepsy is a brain disorder that causes recurring seizures. It is one of the most common neurological diseases,…
Three early-phase clinical studies show promising initial data for patients with lymphoma, gastric cancers
Three early-phase clinical studies presented by researchers from The University of Texas MD Anderson Cancer Center at the…
Research identifies how leukemia develops resistance to first line treatments
Relapses in a common form of leukemia may be preventable following new research which has identified how the…
Researchers elucidate how gene mutation mechanism causes autism
Researchers show how mutations of gene transcription and chromatin regulation-related genes cause autism. The loss-of-function mutation of KMT2C, a…
Gene therapy and glycoside drugs offer new hope for polycystic kidney disease treatment
Researchers have shown that dangerous cysts, which form over time in polycystic kidney disease (PKD), can be prevented…
Lurie Children’s Hospital administers first gene therapy for Duchenne muscular dystrophy in Illinois
On March 27, 2024, Ann & Robert H. Lurie Children’s Hospital of Chicago treated its first patient with…