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New Products: Children's Mercy's TaGSCAN; COSMIC


Children's Mercy Hospital has launched its Targeted Gene Sequencing and Custom Analysis, or TaGSCAN, test to diagnose pediatric genetic diseases. The test screens for more than 750 diseases that are the result of a single-gene defect, such as muscular dystrophy, cystic fibrosis, polycystic kidney disease, and hundreds of others. The test costs less than $3,200 and has a turnaround time of six to eight weeks. It is available to Children's Mercy patients and referring physicians through the Center for Pediatric Genomic Medicine at Children's Mercy.

The Wellcome Trust Sanger Institute has released version 67 of COSMIC, the Catalog of Somatic Mutations in Cancer. The latest release now includes copy number aberrations as well as somatic mutations. It also includes three new curated genes, 11 new fusion gene pairs, 20 new systematic screen publications, and six new census genes.

COSMIC's Cancer Cell Line Project also now contains the full exome sequencing of 1,015 cell lines. COSMIC now contains a total of 7,954 whole-genome sequencing samples.