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COSMIC 34, dbSNP Build 128

Release 34 of the Catalogue of Somatic Mutations In Cancer database is now available here. The new COSMIC release includes updates on BRCA1, BRCA2, and the EWSR1/ERG gene fusion from the scientific literature. Also, the website has been enhanced with an update of old gene names and further links. In addition, the Cancer Genome Project trace and genotype archive, which holds the group’s sequence traces and genotype data, is now available.


NCBI dbSNP EntrezSNP build 128 and build 128 FTP are now available here.

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.