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PierianDx Clinical Genomicist Workspace

PierianDx said that its Clinical Genomicist Workspace genomics workflow and analysis software now supports clinical microarray technology (CMA). CMA enhancements within CGW include workflow integration to submit processed microarray results from a batch of samples to generation of a templated report without user intervention; the ability to review, sort, and filter copy number variants (CNV) as well as loss of heterozygosity (LOH) segments and associated quality information; the ability to set laboratory-specific validation filters for CNV and LOH segments as well as specific panel- and case-specific filters; clinical interpretations that are automatically inferred in patient cases for review and editing; and an updated knowledgebase that includes published literature for articles that mention cytogenetic positions, genes, and phenotypes associated with a patient case.

The Scan

Harvard Team Report One-Time Base Editing Treatment for Motor Neuron Disease in Mice

A base-editing approach restored SMN levels and improved motor function in a mouse model of spinal muscular atrophy, a new Science paper reports.

International Team Examines History of North American Horses

Genetic and other analyses presented in Science find that horses spread to the northern Rockies and Great Plains by the first half of the 17th century.

New Study Examines Genetic Dominance Within UK Biobank

Researchers analyze instances of genetic dominance within UK Biobank data, as they report in Science.

Cell Signaling Pathway Identified as Metastasis Suppressor

A new study in Nature homes in on the STING pathway as a suppressor of metastasis in a mouse model of lung cancer.