MyGene2 is a free, family-friendly platform for families with rare diseases, clinicians, and researchers to publicly share health and genetic data to facilitate gene discovery and understanding genotype-phenotype relationships. MyGene2 is a semifinalist for the Open Science Prize, an award of $230,000 that will be given to one of three projects with the most votes by January 6.

Approximately 350 million people worldwide have a rare disease, most of which are Mendelian conditions caused by mutations of a single gene. However, of ~8,000 known Mendelian conditions, the causal gene is known for only half. This is a major gap in knowledge that limits diagnosis, prognosis, and treatment of rare diseases.

A major obstacle to understanding the genetic basis of all rare diseases is insufficient sharing of genetic and health data. MyGene2 makes it easy for families with rare conditions, doctors, and researchers to share data publicly and equitably. MyGene2 analyzes these data to spot discoveries, and summarizes discoveries and the health problems caused by each gene in a public report. Users can explore their own data or data from other users, be automatically notified of discoveries, and network with each other. Radically-open data sharing using MyGene2 will transform the study, diagnosis, and care of families with rare diseases.

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