mutation detection
Rare Variant Disease Ties Found Using Large-Scale Sequencing Datasets
Researchers performed phenome-wide association analyses with exome or genome sequences for diverse UK Biobank, Mass General Brigham Biobank, and All of Us participants.
Bladder Cancer Genomes Reveal Treatment Response-Related Mutations in Driver Gene
Researchers linked ERCC2 mutations to broader somatic mutation and treatment response patterns when they analyzed tumor genome sequences from hundreds of bladder cancers.
Clonal Hematopoiesis Drivers Detected in Selection-Focused Study
Researchers performed gene-level selection analyses on blood-based exome sequences from UK Biobank participants, narrowing in on 17 clonal hematopoiesis driver genes.
Long-Read Sequencing Study Finds Genetic Culprit for Rare Neurological Condition
By analyzing members of a large extended family in Utah, researchers linked a ZFHX3 gene repeat expansion to a severe condition called spinocerebellar ataxia 4.
The lab achieved a sequencing quality score of Q140, or one error in a 100 trillion bases, for detecting single-base substitutions on single strands of DNA.