Skip to main content

GEUVADIS Consortium Seeks to Standardize Clinical Sequencing Efforts


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

WHO OKs Emergency Use of Sinopharm Vaccine

The World Health Organization has granted emergency approval for Sinopharm's SARS-CoV-2 vaccine, the Guardian reports.

Scientific Integrity Panel to Meet

According to the Associated Press, a new US scientific integrity panel is to meet later this week.

Trying in the Eye

NPR reports that a study of Editas Medicine's CRISPR therapy for Leber congenital amaurosis has begun.

PLOS Papers on Cerebellum Epigenetics, Copy Number Signature Tool, Acute Lung Injury Networks

In PLOS this week: epigenetics analysis of brain tissue, bioinformatics tool to find copy number signatures in cancer, and more.