Skip to main content
Premium Trial:

Request an Annual Quote

New Products: Aug 3, 2010

Premium

The Wellcome Trust Sanger Institute has released version 48 of COSMIC, the Catalogue of Somatic Mutations in Cancer, available here. The new release contains the majority of curated p53 mutations, curated mutations for the TET2 and SETD2 genes, 10 new fusion gene pairs, and two new systematic screens. The system has also been updated to provide genomic coordinates on both NCBI36 and the later GRCh37 genome builds. COSMIC now includes 2,760,220 experiments, 541,928 tumors, 23,907 unique mutations, 18,490 genes, 4,946 fusions, 2,306 structural variants, and 28 whole cancer genomes.

The Scan

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.

Lupus Heterogeneity Highlighted With Single-Cell Transcriptomes

Using single-cell RNA sequencing, researchers in Nature Communications tracked down immune and non-immune cell differences between discoid lupus erythematosus and systemic lupus erythematosus.

Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

With an approach called MELT, researchers in the European Journal of Human Genetics uncovered mobile element insertions in exomes from 3,232 individuals with or without developmental or neurological abnormalities.

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.