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COSMIC Release 37

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COSMIC, the Catalog of Somatic Mutations in Cancer, release 37 is available here. In total, over 1,200 new mutations have been added in the new release. COSMIC v37 extends the complete curation of oncogenic EWSR1 fusion partners and includes two new curated genes, PHOX2B and PRKAR1A. Resequencing studies and cell line projects from the Sanger Institute’s Cancer Genome Project are also updated, each receiving over 100 new mutations.

The Scan

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.

Rett Syndrome Mouse Model Study Points to RNA Editing Possibilities

Investigators targeted MECP2 in mutant mouse models of Rett syndrome, showing in PNAS that they could restore its expression and dial down symptoms.

Investigators Find Shared, Distinct Genetic Contributors to Childhood Hodgkin Lymphoma

An association study in JAMA Network Open uncovers risk variants within and beyond the human leukocyte antigen locus.

Transcriptomic, Epigenetic Study Appears to Explain Anti-Viral Effects of TB Vaccine

Researchers report in Science Advances on an interferon signature and long-term shifts in monocyte cell DNA methylation in Bacille Calmette-Guérin-vaccinated infant samples.