Illumina releases DRAGEN v4.0 secondary analysis platform July 27, 2022 -- Illumina has released Illumina Dynamic Read Analysis for Genomics (DRAGEN) v4.0 as its most accurate and comprehensive secondary analysis platform. The new features allow laboratories to expand capabilities in analysis in oncology, pharmacogenomics, single-cell sequencing, and population genomics.Read More
NGS detects mutation that causes spinal muscular atrophy July 27, 2022 -- Gustavo Barcelos Barra and colleagues at Sabin Medicina Diagnostica in Brasilia, Brazil, are developing a next-generation sequencing (NGS) panel that detects a mutation in a small spot on the SMN1 gene which causes spinal muscular atrophy.Read More
Spanish researchers unlock the mystery of multidrug resistance July 25, 2022 -- A team from the Spanish National Cancer Research Centre has determined that mutations that inactivate the function of a particular gene, FBXW7, reduce the sensitivity to the vast majority of drugs and result in multidrug resistance, according to a study published July 21 in EMBO Molecular Medicine.Read More
Scientists publish whole-genome sequences of 150k individuals from U.K. Biobank July 20, 2022 -- In a paper published today in the journal Nature, scientists from Amgen subsidiary Decode Genetics with collaborators from Denmark report they have determined the whole-genome sequences of 150,119 individuals from the U.K. Biobank and identified more than 600 million sequence variants.Read More
Mouse DNA methylation array seeks to accelerate high-sample-throughput studies July 14, 2022 -- Scientists have developed a mouse DNA methylation array that contains more than 296,000 probes and a murine methylome atlas of 1,239 diverse cell types, strains, ages, and pathologies, giving researchers an in-depth view into the basis of health and disease in this important model organism.Read More
Biochemical pathway leads to inflammation characteristic of autoimmune disease: study July 14, 2022 -- Researchers from the University of California, San Diego School of Medicine, along with colleagues from other institutions, have described the biochemical pathway that leads to inflammation characteristic of autoimmune diseases, which they contend could lead to new anti-inflammatory therapies.Read More