Skip to main content
Premium Trial:

Request an Annual Quote

New Products: Eastern Biotech's Trigene; UK NHS's Cancer Test; COSMIC


Eastern Biotech in Dubai is now offering BGI Health's non-invasive sequencing-based prenatal test for Down syndrome under the name Trigene. The test, which BGI calls NIFTY for noninvasive fetal trisomy, is based on a shotgun sequencing strategy.

The UK's National Health Service has launched a 46-gene cancer panel developed by the University of Oxford and Oxford University Hospitals NHS Trust. Currently, the test is being run out of the Oxford Biomedical Research Center's Molecular Diagnostics Center, but will eventually be offered broadly within the NHS. The £300 ($453) test is based on Life Technologies' Ion AmpliSeq Cancer panel and runs on the Ion Torrent PGM. It was developed under the UK's Stratified Medicine Program, through a tumor profiling initiative funded by the Technology Strategy Board. The test was initially made available at the beginning of the year through the University of Oxford (CSN 1/2/2013).

The Wellcome Trust Sanger Institute has released version 64 of COSMIC, the Catalog of Somatic Mutations in Cancer. The latest release includes the full curation of gene fusions CIC-DUX4 and ACTB-GLI1 in solid tumors. It has also added 12 whole-genome sequencing publications, bringing the total number of whole-genome sequencing samples to 5,023.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.