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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 man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.

The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.

Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.

In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.