Informatics

News on bioinformatics, software, genome analysis, variant classification, and IT in genetics, genomics, and molecular diagnostics.

Early research has shown the open-source ExpansionHunter software to be highly accurate in identifying repeat expansions that indicate rare diseases.

Commercialization efforts will focus on the most recent version of Genialis' platform, which includes tools for RNA-seq analysis and variant discovery.

Sunquest and N-of-One are aiming to help pathologists create actionable, patient-specific genetic reports from NGS panels.

The deal covers BioDiscovery's products, including the NxClinical 4.0 software system for genomic variant analysis and interpretation.

The workgroup wanted to address the problem of variability in how bioinformatics pipelines are validated in order to improve the accuracy of NGS tests.

Rare gene mutations are guiding the search for drugs to manage chronic pain without opioids, according to CNBC.

The new Francis Crick Institute building can get too noisy for some researchers to concentrate, according to the Guardian.

CBS News reports that there are still many vacancies at the White House Office of Science and Technology Policy, but that it's uncertain whether they will be filled.

In Nucleic Acids Research this week: pipeline to analyze and visualize bacterial genomes, database of global set of human genomes, and more.