The Monarch Initiative, led by team captain Monica Munoz-Torres, Ph.D., Associate Professor of Biomedical Informatics at the University of Colorado School of Medicine, was awarded a Distinguished Achievement Award for Data Reuse in the first NIH DataWorks! Prize in February 2023. The DataWorks! Prize, a partnership between FASEB and the…

Large Language Models (LLMs) such as GPT-3+ can help with tasks ranging from generating sophisticated software to writing love sonnets. We wondered whether we could harness the power of LLMs to facilitate a difficult hands-on task that we often encounter: assisting in the curation of a structured knowledge base that…

With the aim of improving diagnosis and, ultimately, treatment, the Monarch Initiative and the Phenomics First Center of Excellence in Genomic Science (CEGS) bring together basic science knowledge, clinical research and rare disease patients to help untangle the causes and characteristics of rare diseases. There are more than 10,000 different…

We at the Monarch Initiative are excited to announce that we have been awarded a Distinguished Achievement Award for Data Reuse in the first NIH DataWorks! Challenge, which awarded 11 prizes out of a total field of 106 applicants. Monica Munoz-Torres, Ph.D., …

The Mondo Disease Ontology wouldn’t be what it is without our continuously growing Mondo community, for whom we are incredibly grateful. Our preprint on Mondo was published this year with almost 100 co-authors who have contributed to Mondo in various ways. This past year, new users and collaborators have joined…

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…