whole-genome sequencing
Mutational Signatures Profiled in Pediatric Cancers
Researchers uncovered and analyzed mutational signatures in 27 cancer types or subtypes by analyzing genome sequences for nearly 800 tumors.
Sarcoma Susceptibility Traced to Telomere Function, Mitotic Pathways
A search for rare sarcoma-related germline variants led to centromere and shelterin genes involved in mitotic function and telomere regulation, respectively.
Sequencing Study Uncovers Genes Under Positive Selection in Large, Long-Lived Sea Creatures
Sequences from a range of cetacean species suggest the aquatic environment has exerted selective pressure genes involved in growth, cancer suppression, and other features.
Plague Pathogen Population History Informed by Integrative Analysis
Researchers found that genetic analyses of Yersinia pestis genomes alone could not sufficiently track the slow-mutating microbes, which have an unstable molecular clock.
Rebranded GeneDx Bets Future on Whole-Exome, Whole-Genome Sequencing in Pediatric Rare Disease
Premium
After dropping underdeveloped Sema4 business lines but emphasizing the Centrellis informatics platform, the new GeneDx expects to reach profitability by 2025.