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Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Plos Biology|January 7, 2015
Finding our way through phenotypesAndrew R Deans, Suzanna E Lewis, Eva Huala, et al.
Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.
Genome Biology|September 9, 2016
An expanded evaluation of protein function prediction methods shows an improvement in accuracyYuxiang Jiang, Tal Ronnen Oron, Wyatt T Clark, et al.
Nucleic Acids Research|November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Cell Genomics|January 24, 2022
GA4GH: International policies and standards for data sharing across genomic research and healthcareHeidi L Rehm, Angela J H Page, Lindsay Smith, et al.
Ecology and Evolution|January 11, 2017
The database of the PREDICTS (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems) projectLawrence N Hudson, Tim Newbold, Sara Contu, et al.
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