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Next-Generation Discovery Workflows

Two new studies revealed the prevalence of pathogenic variants in breast cancer-related genes, while highlighting genes that may be most informative in the clinic.

By uncovering genetic factors behind blood and urine biomarkers, researchers came up with polygenic scores related to biomarker status and related disease risk.

Two new studies of people with autism spectrum disorder indicate that mosaic mutations and copy number variants contribute to a person's risk for the condition.

The exome-by-phenome-wide analysis uncovered 21 novel gene-phenotype associations, including genes linked to glaucoma and diabetes.

Using single-cell and bulk RNA sequence data, investigators identified four pathway-based GBM subtypes, including a mitochondrial subtype that appears to respond to related inhibitors.