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New Products: Verinata Health's Verifi; GeneDx's XomeDx; COSMIC


Verinata Health has launched Verifi, its noninvasive sequencing-based test to diagnose fetal trisomy 21, trisomy 18, and trisomy 13 in high-risk pregnancies. According to the company's website, the test is available for women as early as 10 weeks into pregnancy and has a turnaround time of eight to 10 business days.

subsidiary GeneDx has launched its XomeDx exome sequencing test to diagnose rare diseases. The test is intended for patients who have gone through routine diagnostic tests without receiving a diagnosis. Out-of-pocket costs will be under $1,000 for a set of three tests, including the patient and two healthy family members, according to the company (CSN 10/19/2012).

The Wellcome Trust Sanger Institute has released version 58 of COSMIC, the Catalog of Somatic Mutations in Cancer. Five new fusion gene pairs and one new cancer gene are curated in the new release. Additionally, 13 new genes have been added to the cancer gene census, bringing the total genes implicated in cancer to 487.

The Scan

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.

Researchers Reprogram Plant Roots With Synthetic Genetic Circuit Strategy

Root gene expression was altered with the help of genetic circuits built around a series of synthetic transcriptional regulators in the Nicotiana benthamiana plant in a Science paper.

Infectious Disease Tracking Study Compares Genome Sequencing Approaches

Researchers in BMC Genomics see advantages for capture-based Illumina sequencing and amplicon-based sequencing on the Nanopore instrument, depending on the situation or samples available.

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.