Skip to main content
Premium Trial:

Request an Annual Quote

GEUVADIS Consortium Seeks to Standardize Clinical Sequencing Efforts

Premium

Investigators at 17 institutions across Europe and the US have banded together in an effort to establish standards for human genome sequencing practice and analysis. The Genetic European Variation in Disease, or GEUVADIS, consortium is coordinated by Xavier Estivill at the Center for Genomic Regulation in Barcelona, and is funded for a period of 36 months by the European Commission under its Seventh Framework Programme.

GEUVADIS aims to establish standards for quality control and sequence data assessment; develop models for data storage, exchange, and access; standardize biological and medical sequence data interpretation, handling, and analysis; establish ethical standards related to sequence variation-based phenotype prediction; and develop effective dissemination and training forums and protocols.

Estivill, who leads the Genetic Causes of Disease group at CRG, is hopeful that GEUVADIS will serve as "a strong European framework that can be used to dissect the genetics of disease and to implement genomics responsibly in the medical setting," he says in a statement.

GEUVADIS also aims to develop efficient forums to exchange medical information as well as any technological insights its members generate in pursuit of their specific objectives. To that end, Estivill approached Johns Hopkins University School of Medicine's Ada Hamosh — the scientific director of the Online Mendelian Inheritance in Man database — in November 2009 to ask that she join the consortium.

OMIM "is the main database for descriptions of Mendelian disorders and traits and the genes responsible" and is "queried daily by over 1,000 unique users," Hamosh says. OMIM "will help with dissemination of this information to the biomedical community as new discoveries are made" through the GEUVADIS consortium's efforts, she adds.

Though Hamosh says that OMIM is currently "based exclusively on the biomedical future," her team is now "adapting to meet the expected onslaught of new data from this and other efforts around the world."

The Scan

More Boosters for US

Following US Food and Drug Administration authorization, the Centers for Disease Control and Prevention has endorsed booster doses of the Moderna and Johnson & Johnson SARS-CoV-2 vaccines, the Washington Post writes.

From a Pig

A genetically modified pig kidney was transplanted into a human without triggering an immune response, Reuters reports.

For Privacy's Sake

Wired reports that more US states are passing genetic privacy laws.

Science Paper on How Poaching Drove Evolution in African Elephants

In Science this week: poaching has led to the rapid evolution of tuskless African elephants.