genome interpretation

In healthcare, Cloudera has evolved from mostly supporting downstream variant stores to being a centerpiece of the shift to GATK4.

The companies plan to offer a service called MyMap, which will include MyGenome next-generation sequencing by Veritas and MediMap pharmacogenomic testing by Inova.

Vendors DNAnexus and Saphetor hope to create a seamless platform for genome-based biomarker discovery and interpretation.

The companies will share bioinformatics and NGS expertise to speed the identification of diseases, accelerate drug discovery, and find "genomic shields."

The UCSF Helen Diller Family Comprehensive Cancer Center has installed GenomOncology's GO Clinical Workbench to support the institution's UCSF500 NGS panel.

A curation working group established a framework that considers the nature and strength of the available evidence when evaluating gene-disease associations.

Congenica will use the proceeds to establish its presence in the US and China, where it will court not only clinical genetics labs, but specialists, academics, biotech, and pharma.

Researchers identified and started analyzing thousands of non-repetitive, non-human reference genome sequences in individuals from Iceland.

In a new AMP working group project, labs can volunteer to compare their interpretation of challenging variants to help identify where and how the guidelines might be improved.

One deal will see Philips' solution used to improve cancer patient outcomes while the other will beef up its ability to interpret data from oncology tests.

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Rare gene mutations are guiding the search for drugs to manage chronic pain without opioids, according to CNBC.

The new Francis Crick Institute building can get too noisy for some researchers to concentrate, according to the Guardian.

CBS News reports that there are still many vacancies at the White House Office of Science and Technology Policy, but that it's uncertain whether they will be filled.

In Nucleic Acids Research this week: pipeline to analyze and visualize bacterial genomes, database of global set of human genomes, and more.