News on bioinformatics, software, genome analysis, variant classification, and IT in genetics, genomics, and molecular diagnostics.
In a training subset of the larger cohort, the company was able to develop classifiers that detected many cancers while minimizing false positives.
The firms will work to accelerate the adoption of PierianDx's genomics platform for translating data into patient-specific diagnoses and treatments.
St. Jude Cloud, powered by DNAnexus and Microsoft, offers free access to thousands of WGS records plus cloud-based visualization and computational tools.
The researchers have made the pipeline, called CRISPRdisco, free for other scientists to use through Github, and are hoping the community will also help refine and update it.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
