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.

NPR reports that researchers in Italy are testing a gene drive aimed at controlling mosquito populations.

Researchers may experience the effects of the government shutdown for a while, the Los Angeles Times reports.

A new study finds that the majority of patients at a Tijuana clinic received a diagnosis after first-line genome sequencing, the San Diego Union-Tribune reports.

In Genome Biology this week: post-transcriptional modification-based stratification of glioblastoma, single-cell analysis of gene expression and methylation in human iPSCs, and more.