MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.
Called GA4GH Connect, it calls on the alliance's 500-plus members to develop new data sharing standards for use in major international genomic data initiatives.
The recent study highlights strengths and weaknesses of numerous platforms and may help end users choose the best assay for their circumstances.
The startup is launching an instrument that will process up to 10,000 single cells for DNA sequencing as well as a panel that will target AML genes.
The researchers established the suitability of FraC nanopores for protein analysis and offered a new approach to driving proteins into nanopores for detection.
The collaborators will grant the licenses to any entities wanting to use the technology for commercial agricultural research and product development.
Using DNA to sketch crime victims might not be a great idea, the NYTimes says.
Science has its own problem with sexual harassment. What do we do with the research these abusers produce, Wired asks.
Senate Republicans led by Senator Rand Paul (R-KY) are trying to change how the government funds basic research, reports ScienceInsider.
In Science this week: combining genomics and ecology to better understand the effects of natural selection on evolution, and more.
This white paper describes a benchmarking study of 30 whole-exome sequencing cases in which Diploid's Moon software outperformed another variant interpretation algorithm in ranking causal variants.