GoKawiil
Tech News
A commentary argues that healthcare systems should stop delaying whole genome sequencing for certain patients, saying rare disease diagnoses often take years to reach. It contends the cost of that delay should be counted not just in time but in dollars, clinical capacity, and missed chances for better treatment.
Washington state health officials published a study in NEJM Evidence showing that a measles outbreak in South Carolina, which began in October 2025 and ended in April 2026 with 997 cases, spread to Washington through five separate importation events within a two-week span in January. Those introductions led to 26 cases among Washington residents before health authorities contained the spread, with whole genome sequencing confirming the virus arrived independently multiple times rather than spreading from a single source.
Researchers from 21 institutions, including MD Anderson, Duke, UCSF and Mayo Clinic, generated new whole-genome and whole-exome sequencing data on brain tumor samples, combining them with previously published GLASS and TCGA datasets. The analysis used longitudinal tumor and blood samples sequenced on Illumina NovaSeq platforms to track genomic changes in astrocytomas and oligodendrogliomas over time.
Researchers analyzed whole-genome sequencing data from 1,001 prostate cancer patients (1,172 tumour samples) collected through the PPCG consortium, applying computational tools to classify structural variants, including simple, complex, and chromothripsis-related genomic rearrangements. The team combined breakpoint detection, copy number segmentation, and statistical tests to build a detailed picture of mutational processes driving the disease.