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.

Researchers test gene therapy targeting a different cancer protein in a new trial, the New York Times reports.

Pennsylvania State University researchers found that salivary microRNAs could predict which kids would have longer concussion symptoms, according to NPR.

The Associated Press reports Alex Azar, the new Department of Health and Human Services secretary nominee, made millions of dollars as a pharmaceutical executive.

In PNAS this week: immune profiling of breast cancer, transposable element patterns in rice, and more.