Vote for us! The DataWorks! Challenge (www.herox.com/dataworks) rewards teams that demonstrate the power of data sharing or data reuse to advance scientific discovery and human health. A joint initiative of Federation of American Societies for Experimental Biology (FASEB) and the NIH Office of Data Science Strategy, it is held yearly, with final awards…

NIH ORIP releases Monarch Overview video Funded by the National Institute of Health’s Office of Research Infrastructure Programs (ORIP), the Monarch Initiative is the biomedical research community’s most comprehensive cross-species phenotype information resource, delivering powerful computational phenotypic tools. To communicate the power of Monarch to a wide audience, ORIP has…

A stamp of approval from the International Organization for Standardization (ISO) means your standard has made the big time — and that’s what happened to the Phenopacket standard in July, when it was published by ISO as “ISO 4454 Genomics informatics — Phenopackets: A format for phenotypic data exchange.” (If…

The Phenopacket schema has now been published in Nature Biotechnology, with Monarch Initiative lead authors Julius O. B. Jacobsen, Melissa Haendel, and Peter N. Robinson. The Global Alliance for Genomics and Health (GA4GH) Phenopacket schema provides a human- and machine-readable way to record and share phenotypic data about a patient…

Corralling Veterinarians and Ontologists to Improve Health Outcomes Harmonizing human and veterinary clinical and medical research data has the potential to improve health outcomes across species. While many advancements have been made with human phenotyping and precision medicine, the wealth of veterinary data available about domestic and exotic animals is not yet standardized, and it has not been…

The Monarch Initiative and the Phenomics First Center of Excellence in Genomic Science (CEGS) bring together basic science, clinical research and rare disease patients to help untangle the causes and characteristics of rare diseases. Rare diseases are a major public health issue, affecting an estimated 10% of the population worldwide…

New release of the Phenopackets standard captures a more complete medical picture Illustration by GA4GH The Global Alliance for Genomics and Health (GA4GH) Phenopacket standard provides a human- and machine-readable way to structure phenotypic data about a patient and share it across clinical and research environments to support translational research…

By Sabrina Toro and Nicole Vasilevsky Greetings from the Mondo team! Another year of working remotely, forgoing our hopes that we’d be able to gather together in person this year. But we’ve persevered and we have lots of highlights to share with you from the past year. New team members, new institution, even stronger team We expanded our…

25% of study participants received new diagnosis Groundbreaking research co-led by Monarch Initiative PI Damian Smedley, a professor of Computational Genomics at Queen Mary University of London, demonstrated that whole genome sequencing (WGS) can help uncover rare disease diagnoses in a large range of patients. The 100,000 Genomes Project, sponsored…