PharmGKB

The Pharmacogenomics Clinical Annotation Tool interprets variants from sequencing or genotyping tests and generates a report to inform prescribing decisions.

NHGRI researchers showed that they were able to extract more useful pharmacogenetic information from exome data than from current chip data. 

Two research teams found potentially useful PGx variants in more than 1,000 participants in the NIH Undiagnosed Diseases Program, as well as in a handful of ClinSeq participants.

The funds will be used to expand the PharmGKB database and support the activities of the Clinical Pharmacogenetics Implementation Consortium.

Originally published Sept. 10.

NEW YORK (GenomeWeb News) – Personalis said after the close of the market Thursday that it has gained an exclusive license to commercialize the Pharmacogenomics Knowledge Base (PharmGKB) and has launched its genome services for researchers.

With the additional funding, "we are going to develop literature-mining tools to extract information automatically to speed up our curation," Russ Altman, principal investigator in PharmGKB, said this week. The added NIH funds will also be used to annotate the whole-genome sequence data of a family, which Altman cannot yet identify.

Despite the finding of clinically significant variants, the project took considerable time and resources, indicating that the analysis step still poses a major challenge in bringing whole-genome sequencing into clinical practice.

AssureRx has added a fifth gene, CYP1A2, to its GeneSightRx pharmacogenomic test to guide treatment decisions for psychiatric patients.

A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.