mutation detection
Building on results from cases reported this week, investigators in the United Arab Emirates are working to expand access to rapid whole-genome sequencing in the pediatric ICU.
SARS-CoV-2 Genome Analysis Reveals Fitness-Enhancing Mutations
Using a new modeling approach, investigators analyzed sequences for nearly 6.4 million SARS-CoV-2 isolates, uncovering fitness-related mutations and clues to the virus's evolution.
Most People With Hypermutated Genome Obtain Excess Mutations from Father, Study Finds
With sequence data for 21,879 families, researchers found that germline hypermutation is rare but can stem from DNA repair defects or from a father's prior chemotherapy treatment.
Lupus Linked to TLR7 Mutations, Related Signaling Changes
Gain-of-function mutations in TLR7 were found to cause systemic lupus erythematosus through excess TLR7 pathway activation, pointing to possible treatment targets.
New Mutational Signatures Detected in Cancers Profiled for UK's 100K Genomes Project
Researchers analyzed genome sequences from 18,640 tumors profiled for the 100kGP and other efforts, leading to dozens of substitution signatures and a new signature detection algorithm.