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The Exome Scores Again

Researchers and clinicians at Massachusetts General Hospital report their use of exome sequencing to identify two nonsense mutations in ANGPTL3 as a cause of hypolipidemia in the New England Journal of Medicine this week. With funding from the National Human Genome Research Institute, among other sources, the Mass General team sequenced the complete exomes of two family members with combined hypolipidemia and found that they were both "compound heterozygotes for two distinct nonsense mutations in ANGPTL3" — the gene that encodes the angiopoietin-like 3 protein, which has been shown to increase plasma triglyceride and HDL cholesterol levels in rodents. "Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders," the authors write.

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.