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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.

The Scan

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.