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Critical Illness Contributors Found in Pediatric Exomes

In JAMA Network Open, researchers from Columbia University, Regeneron Pharmaceuticals, the New York City Office of Chief Medical Examiner's molecular genetics lab, and New York Presbyterian Hospital uncover excess rare, loss-of-function variants in children with critical illnesses or related deaths. Using exome sequence data for 267 pediatric critical illness cases, 18 deceased children with a history of bronchiolitis, and 9,990 unaffected controls, the team saw enhanced rare or ultrarare loss-of-function variation in 231 of the cases, although most patients were not diagnosed with a genetic condition. "This genetic association study found that critically ill children harbored excess [loss-of-function] variants," the authors reported, concluding that their findings so far "indicate that critically ill children harbor ultrarare risk variants detected by [exome sequencing], even in the absence of genetic diagnoses."

The Scan

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.

Neurological Outcomes Linked to Innate Immune Features After Cardiac Arrest

Researchers reporting in Med dig into immune features found a few hours after cardiac arrest that correspond with neurological outcomes.

Mouse Study Finds Circadian Rhythm-Related Gene Expression Changes Linked to Sleep Apnea

A paper in PLOS Biology reveals tissue-specific circadian rhythm and gene expression patterns in an intermittent hypoxia-based mouse model of obstructive sleep apnea.

Polygenic Risk Score to Predict Preeclampsia, Gestational Hypertension in Pregnant Women

Researchers in Nature Medicine provide new mechanistic insights into the development of hypertensive disorders of pregnancy, which may help develop therapeutics.