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Unlike existing versions, CLARK-S allows mismatches between sample reads and reference databases, enabling it to map a larger proportion of input sequences.
The software combines the output of multiple data projection methods with gene signature information to help users identify meaningful biological processes.
The partners will evaluate various established research solutions including a number of variant calling methods for potential clinical use.
PNRI researchers will be able to analyze information from over 600,000 discrete tumor, blood, and urine samples from around 25,000 patients.
Sentieon's first products re-implement the Broad's GATK and MuTect but offer 10-fold, and in some cases 20- to 50-fold, increases in processing speed.
The study found that combining whole-genome expression or genome-wide methylation data with clinical data improves survival predictions in breast cancer cases.
A key feature of the platform is iMethods, which lets users pack their analysis tools and protocols in Docker containers and share them as part of their papers.
TheSTARPlatform includes tools for analyzing genomic data from raw sequence through to variants calls as well as for compressing and storing data.
The laboratory will employ dedicated computational biologists and bioinformaticians to analyze genomic datasets for ALSF-funded researchers and other scientists.
Recent numbers from the PMKB website show that the repository currently contains 144 genes, 458 variant descriptions, and 286 clinical interpretations.
President-elect Joe Biden has nominated Eric Lander to serve as director of the Office of Science and Technology Policy, the Associated Press says.
Nature News writes that scientists are trying to figure out how to name the new strains of SARS-CoV-2 that are emerging.
The New York Times reports that researchers are studying identical twins who had COVID-19 to understand the influence of genetics on disease severity.
In PNAS this week: epistasis affecting cystic fibrosis, Tiger rattlesnake genome gives venom insight, and more.