mutation detection Middle East Team Calls for Local Availability of Rapid WGS to Diagnose Severely Ill Infants Premium 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. Apr 20, 2022 Advanced Alzheimer's Disease Linked to Somatic Mutation Rise in Neuronal Cells Apr 14, 2022 Genomic Study of Mammalian Species Links Somatic Mutation Rate to Lifespan Apr 11, 2022 New Variation of Duplex Sequencing Method Improves Low-Frequency Somatic Mutation Detection Premium Mar 29, 2022 Pan-Cancer Genomic Data Analysis Identifies Prognostic Biomarkers Mar 14, 2022 Study Describes De Novo Mutation Detection With Long-Read Familial Sequence Data Feb 11, 2022 Cancer Genome Analysis Points to Biallelic Mutations to Inform Variant Interpretation Feb 9, 2022 Large-Scale Cancer Genome Analysis Reveals Mutation Clusters That Can Inform Prognosis Sep 30, 2021 Individuals With Polymerase Defects Have Increased Somatic Mutations, But Not Increased Aging Sep 7, 2021 Lung Cancers in Non-Smokers Fall Into Informative Molecular Subtypes Aug 25, 2021 Genetic Analyses Trace How Mutations Accumulate in Cells of the Human Body Over Time Jul 2, 2021 DNA 'Damagenome' May Provide Disease Clues, Study Suggests Jun 22, 2021 Guardant Health Targets Emerging Treatment Response Market With New ctDNA Product Premium Apr 16, 2021 OncoDiag Taking Aim at Broader Adoption of Molecular Multiplex Test for Bladder Cancer Recurrence Premium Mar 4, 2021 At AGBT, Two Labs Share SARS-CoV-2 Genomic Surveillance Experience Premium Mar 3, 2021 Agena Rolls out Seq-It SARS-CoV-2 Variant Panel Globally for Use on MassArray System Premium Jan 27, 2021 Small Cell Lung Cancer Study Uncovers Disease-Associated Germline Mutations Jan 13, 2021 Autism Spectrum Disorder Study Finds Contribution From De Novo Tandem Repeat Mutations Jan 11, 2021 Multi-Cancer Molecular Screening Assays Primed for Clinical Implementation in 2021 Premium Jan 7, 2021 Identical Twins Have Non-Identical Genomes, Study Finds Jan 7, 2021 Clear Labs, Integrated DNA Technologies Expand Partnership to Include COVID-19 Testing Load More Breaking News Canadian Healthcare Providers, Policymakers Value Different Aspects of Clinical Genomic Sequencing New Products Posted to GenomeWeb: Oxford Nanopore, Bio-Rad, NanoString, More People in the News at OraSure, Element Biosciences, Micronoma, More Guardant Health Files Motions to Dismiss, Change Venue in Illumina Patent Lawsuit In Brief This Week: SQI Diagnostics, T2 Biosystems, Enhanc3D, QuidelOrtho, More Illumina, Precision Health Research Singapore Partner for 100K Genomes Population Study The Scan Blend of Omicron With Delta The Associated Press reports that currently circulating Omicron variants have some features previously seen in the Delta variant. Limited Contrast The New York Times reports that there is a shortage of a contrast agent used for some medical scans. Pig Improvement Farmers in China are using genetics to improve their hog herds, according to Reuters. Science Papers Present Way to Molecularly Classify Prostate Cancer, Saliva-Based SARS-CoV-2 Test, More In Science this week: approach to molecularly classify prostate tumors, saliva-based test for SARS-CoV-2, and more.