Collection of variation causing disease - The Human Variome Project

Reducing the burden of inherited disease: the Human Variome Project.

Standard development at the Human Variome Project

The Human Variome Project (HVP) is a world organization working towards facilitating the collection, curation, interpretation and free and open sharing of genetic variation information. A key component of HVP activities is the development of standards and guidelines. HVP Standards are systems, procedures and technologies that the HVP Consortium has determined must be used by HVP-affiliated data...

Initiating a Human Variome Project Country Node.

Genetic diseases are a pressing global health problem that requires comprehensive access to basic clinical and genetic data to counter. The creation of regional and international databases that can be easily accessed by clinicians and diagnostic labs will greatly improve our ability to accurately diagnose and treat patients with genetic disorders. The Human Variome Project is currently working ...

InSiGHT leads in the implementation of the Human Variome Project

Background With next gen sequencing, the human genome can be sequenced in a few weeks and for a few thousand dollars. Capability is no longer the issue: interpretation is. Assembling information to assist in interpreting the consequences of all base pair changes is the mission of the Human Variome Project (HVP). InSiGHT has collaborated with the HVP, and now, due its coherence and international...

Planning the human variome project: the Spain report.

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for fu...