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Ensembl, ProMax.

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Release 1.0 of Ensembl is now available at www.ensembl.org.

Improvements over previous releases include a new web user interface, comprehensive “How To” documents, and a rewritten view of the human genome that allows per-user configuration.

The database now offers 24,046 confirmed genes, and 90 percent of known genes are correctly mapped to the genome.

The Ensembl developers at the European Bioinformatics Institute and the Sanger Center expect to offer several other features within two weeks, including a comparison of mouse whole genome shotgun data to the human genome assembly and clustering of all vertebrate protein sequences to provide potential gene family groups.

Structural Bioinformatics of San Diego has doubled the number of protein families in its ProMax protein structure database to over 400.

The ProMax database is a repository for computationally derived 3D protein structures for which no X-ray crystal structures are available. The protein families contained in the database include proteins believed to be associated with major diseases including asthma, cancer, diabetes, inflammatory diseases, and bacterial and viral infection.

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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.