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Saphetor VarSome API

Saphetor has introduced an application programming interface for its VarSome genomic annotation tool. The API helps bioinformaticians and technology developers who support genetic research integrate VarSome's knowledge base of curated data from more than 30 publicly available genomic databases into their own IT systems. Lausanne, Switzerland-based Saphetor said that the API can increase annotation throughput by fourfold compared to other methods, helping researchers process a full genome in about two hours over an "average" internet connection.

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.