With its purchase of decision support technology maker Interactive Biosoftware, Sophia looks to extend its AI platform deeper into NGS interpretation.
The researchers proposed specific functions for transporters, enzymes, and uncharacterized protein families and identified several potential DNA repair proteins.
The Genomenon Mastermind genomic search engine links to Saphetor's VarSome genomic annotation tool, while VarSome links back to variant-related literature.
The team aims to release the new resource sometime next year, with the hope that it will become as widely used as other institute databases.
In Nature this week: improved maize reference genome, and more.
A Brazilian team has developed an open-source software tool called Mendel,MD that annotates sequencing data to identify candidate disease-causing mutations.
Researchers compared three open source annotation tools, and also looked at correspondence with public databases, identifying a number of stumbling blocks.
The so-called Genome Browser in the Cloud offers the same capabilities as the web-based version of the resource but is easier to install.
The combined products will provide customers with a comprehensive solution for managing next-generation sequencing workflows in the lab.
The company purchased Tute in a stock-based transaction that closed last month.
Chinese state news agency Xinhua reports that a preliminary investigation has found He Jiankui performed his gene-editing work illegally.
John Mendelsohn, a former president of the University of Texas MD Anderson Cancer Center, has died, the New York Times reports.
Identical twins receive different estimates of ancestry from the same direct-to-consumer genetic testing firms, CBC reports.
In PNAS this week: chromosomal features of maize, adaptations in the vinous-throated parrotbill, and more.