The assay was shown to have a simpler workflow and was able to detect mosaicism, with only a slight decrease in sensitivity compared to a lab-developed test.
The New York Genome Center created MetroNome as a way to show genomic data in the context of phenotypes, but integration challenges lie ahead.
Silicon Valley VC firm DFJ led the investment in Verge, which is applying machine learning to the development of new drugs for Parkinson's and ALS.
Using large-scale GWAS data, researchers saw shared genetic contributors for ALS and frontotemporal dementia, as well as ALS and progressive supranuclear palsy.
Amarantus has reacquired LymPro Test, MSPrecise, and NuroPro and said that it plans to assign the assets to a new subsidiary.
Both a genome-wide association study and a rare variant burden analysis homed in on a role for KIF5A mutations in amyotrophic lateral sclerosis.
Gizmodo wonders whether CRISPR could present a treatment for amyotrophic lateral sclerosis.
In Science this week: genomic studies of how fungal pathogen overcomes resistant wheat plants, and more.
The partners will integrate genomic, imaging, and other data to identify new therapies and personalize treatments for patients with neurological and neurodegenerative diseases.
Early research has shown the open-source ExpansionHunter software to be highly accurate in identifying repeat expansions that indicate rare diseases.
This year's Breakthrough Prize winners include a pair that developed a therapy for spinal muscular atrophy.
The New York Times reports on how white supremacists misconstrue genetic research, concerning many geneticists.
Researchers find that people's genetics influence their success at university, but that it is not the only factor.
In Nature this week: approach to identify genetic variants that affect trait variability, application of read clouds to microbiome samples, and more.