BBMRI-LPC ended on October 31st, 2017. Article on data sharing rules published in Nature by Prof. No cost extension of 9 months granted to BBMRI-LPC! Gene Forum 2017 - June 15-16, 2017 in Tartu, Estonia. Final BBMRI-LPC Consortium Meeting on September 8-9, 2016 at Levi, Kittilä, Finland.

The Function SIG meeting is held annually alongside ISMB. Function SIG 2018 will be held July 7. In Chicago, Illinois, USA. CAFA is an ongoing community challenge for assessing protein function prediction methods. Publications resulting from the Function SIG meeting, and from the CAFA challenges. The Function brings together biocurators, along with computational and experimental biologists. Recently, the availability of genomic-level .

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Combine genotype and phenotype data across species for patient variant prioritization, functional annotation and pathogenicity determination. Securely share and discuss patients with colleagues all around the world. Then optionally compare those phenotypes across species to find candidate models of disease. Find literature relevant to a set of phenotypes of interest.

12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015. A global effort, 100 mitochondrial disease experts.

Enter cases, find matches, and connect with other rare disease specialists. PhenomeCentral is a repository for clinicians and scientists. Working in the rare disorder community. PhenomeCentral encourages global scientific collaboration while respecting the privacy of patients profiled in this centralized database.