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New Products: SoftGenetics' Geneticist Assistant; Ariosa's Harmony Test; Quest's CMT Panel; More


SoftGenetics has launched the Geneticist Assistant NGS Interpretative Workbench, a web-based tool to control, visualize, interpret, and analyze next-generation sequencing data in order to identify pathogenetic variants. The tool was developed in collaboration with researchers at the Mayo Clinic.

Ariosa Diagnostics has expanded its Harmony Prenatal Test to include the option of Y-chromosome analysis. The expanded test will now be able to determine fetal sex with greater than 99 percent accuracy and assess the risk of Y aneuploidy.

Quest's Athena Diagnostics business has launched a 23-gene next-gen sequencing-based test for Charcot-Marie-Tooth disease and Sanger sequencing tests for myofibrillar myopathy, hereditary sensory and autonomic neuropathy, hereditary neuralgic amyotrophy, hypokalemic periodic paralysis, limb girdle muscular dystrophy, benign familiar infantile epilepsy, and familial paroxysmal kinesigenic dyskinesia (see story, this issue).

Arup Laboratories will make Natera's Panorama test available to its customers. Panorama is a non-invasive prenatal targeted sequencing-based test that screens for fetal aneuploidies by evaluating 19,500 SNPs.

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.