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Invitae Immunologic, Metabolic, Newborn Screening Confirmation Panels

Invitae announced it has added 80 new panels and updated 24 panels for the diagnosis of inherited immunologic and metabolic disorders, as well as panels that confirm diagnoses suggested by newborn screening. Some of these offerings include new and updated lysosomal storage disorder panels covering 52 genes; an updated, 90-gene newborn screening confirmation panel; a new panel of 133 genes for diagnosing treatable neurometabolic disorders; a new panel of more than 200 genes linked to primary immunodeficiencies; and a new 46-gene panel for associated monogenic forms of inflammatory bowel disease. Additionally, the firm includes deletion/duplication analysis at no extra charge in an effort to identify between 5 percent and 10 percent of pathogenic variants that are difficult to gauge with next-generation sequencing. 

The Scan

Not Yet a Permanent One

NPR says the lack of a permanent Food and Drug Administration commissioner has "flummoxed" public health officials.

Unfair Targeting

Technology Review writes that a new report says the US has been unfairly targeting Chinese and Chinese-American individuals in economic espionage cases.

Limited Rapid Testing

The New York Times wonders why rapid tests for COVID-19 are not widely available in the US.

Genome Research Papers on IPAFinder, Structural Variant Expression Effects, Single-Cell RNA-Seq Markers

In Genome Research this week: IPAFinder method to detect intronic polyadenylation, influence of structural variants on gene expression, and more.