The phenotype-genotype reference map: Improving biobank data science through replication
L Bastarache, S Delozier, A Pandit, J He… - The American Journal of …, 2023 - cell.com
Population-scale biobanks linked to electronic health record data provide vast opportunities
to extend our knowledge of human genetics and discover new phenotype-genotype …
to extend our knowledge of human genetics and discover new phenotype-genotype …
Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes
Enabling discovery across the spectrum of rare and common diseases requires the
integration of biological knowledge with clinical data; however, differences in terminologies …
integration of biological knowledge with clinical data; however, differences in terminologies …