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Karolinska University Hospital Genetic Analysis Services

The Mutation Analysis Facility (MAF) at Karolinska University Hospital is launching a range of genetic analysis services targeting the European research and clinical market and focusing on areas such as cancer profiling for solid tumors and liquid biopsy, as well as pharmacogenetics. MAF has ISO/IEC 17025 accreditation for core methods by the Swedish SWEDAC authority, and will offer a broad portfolio of services including genome-wide analysis, targeted epigenetic analysis, and DNA methylation for precision medicine research and clinical decision making. Karolinska highlighted in particular its SNP genotyping expertise, noting that it uses MALDI-TOF analysis performed on Agena Bioscience's MassArray platform to simultaneously genotype several SNPs for both small- and large-scale applications.

The Scan

Sick Newborns Selected for WGS With Automated Pipeline

Researchers successfully prioritized infants with potential Mendelian conditions for whole-genome sequencing or rapid whole-genome sequencing, as they report in Genome Medicine.

Acne-Linked Loci Found Through GWAS Meta-Analysis

Researchers in the European Journal of Human Genetics find new and known acne vulgaris risk loci with a genome-wide association study and meta-analysis, highlighting hair follicle- and metabolic disease-related genes.

Retina Cell Loss Reversed by Prime Editing in Mouse Model of Retinitis Pigmentosa

A team from China turns to prime editing to correct a retinitis pigmentosa-causing mutation in the PDE6b gene in a mouse model of the progressive photoreceptor loss condition in the Journal of Experimental Medicine.

CRISPR Screens Reveal Heart Attack-Linked Gene

Researchers in PLOS Genetics have used CRISPR screens to home in on variants associated with coronary artery disease that affect vascular endothelial function.