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Inherited Retinal Disease Study Reveals Structural Variant Impacts on Risk Genes

For a paper in Genetics in Medicine, a team from Radboud University Medical Center, the Technion-Israel Institute of Technology, Trinity College Dublin, and elsewhere present findings from a structural variant (SV) analysis of inherited retinal diseases (IRDs). After identifying an inversion variant affecting the IRD-related gene USH2A, the researchers re-analyzed existing short-read sequence-based genomes for 427 IRD cases with or without a prior genetic explanation, bringing in optical genome mapping insight to help find suspicious SVs. The search pointed to 30 pathogenic SVs, they report, including several IRD-related variants not found in the initial genome analyses. Half of the pathogenic SVs fell in the USH2A gene, though several other IRD-related genes were impacted in smaller groups of patients. "This study highlights that SVs are an underestimated cause of IRDs and demand a sophisticated approach and more attention to facilitate detection during genome analyses," the authors note.

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.