title: Navigating the Phenotype Frontier: The Monarch Initiative.
abstract: The principles of genetics apply across the entire tree of life. At the cellular level we share biological mechanisms with species from which we diverged millions, even billions of years ago. We can exploit this common ancestry to learn about health and disease, by analyzing DNA and protein sequences, but also through the observable outcomes of genetic differences, i.e. phenotypes. To solve challenging disease problems we need to unify the heterogeneous data that relates genomics to disease traits. Without a big-picture view of phenotypic data, many questions in genetics are difficult or impossible to answer. The Monarch Initiative (https://monarchinitiative.org) provides tools for genotype-phenotype analysis, genomic diagnostics, and precision medicine across broad areas of disease.
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Julie A
authors: 0000-0002-9353-5498
authors: JA
authors: McMurry
authors: Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353, Germany.
authors: Sebastian
authors: 0000-0002-5316-1399
authors: S
authors: Köhler
authors: Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, California 94720.
authors: Nicole L
authors: 0000-0001-8936-9143
authors: NL
authors: Washington
authors: RTI International, Durham, North Carolina 27709.
authors: James P
authors: 0000-0002-8688-6599
authors: JP
authors: Balhoff
authors: Department of Biomedical Informatics, University of Pittsburgh, Pennsylvania 15206.
authors: Charles
authors: 0000-0003-4059-4547
authors: C
authors: Borromeo
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Matthew
authors: 0000-0002-1048-5019
authors: M
authors: Brush
authors: Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, California 94720.
authors: Seth
authors: 0000-0001-8244-1536
authors: S
authors: Carbon
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Tom
authors: 0000-0003-0355-5581
authors: T
authors: Conlin
authors: Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, California 94720.
authors: Nathan
authors: 0000-0002-4862-3181
authors: N
authors: Dunn
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Mark
authors: 0000-0001-5889-4463
authors: M
authors: Engelstad
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Erin
authors: 0000-0001-6908-9849
authors: E
authors: Foster
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Jean-Philippe
authors: 0000-0001-9969-8610
authors: JP
authors: Gourdine
authors: Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, United Kingdom.
authors: Julius O B
authors: 0000-0002-3265-1591
authors: JO
authors: Jacobsen
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Daniel
authors: 0000-0002-1643-6242
authors: D
authors: Keith
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Bryan
authors: B
authors: Laraway
authors: Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, California 94720.
authors: Jeremy Nguyen
authors: JN
authors: Xuan
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Kent
authors: K
authors: Shefchek
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239.
authors: Nicole A
authors: 0000-0001-5208-3432
authors: NA
authors: Vasilevsky
authors: Department of Biomedical Informatics, University of Pittsburgh, Pennsylvania 15206.
authors: Zhou
authors: Z
authors: Yuan
authors: Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, California 94720.
authors: Suzanna E
authors: SE
authors: Lewis
authors: Department of Biomedical Informatics, University of Pittsburgh, Pennsylvania 15206.
authors: Harry
authors: H
authors: Hochheiser
authors: Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, 2010, Australia.
authors: Tudor
authors: T
authors: Groza
authors: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, and Queen Mary University of London, EC1M 6BQ, United Kingdom.
authors: Damian
authors: 0000-0002-5836-9850
authors: D
authors: Smedley
authors: Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353, Germany.
authors: Peter N
authors: 0000-0002-0736-9199
authors: PN
authors: Robinson
authors: Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, California 94720.
authors: Christopher J
authors: 0000-0002-6601-2165
authors: CJ
authors: Mungall
authors: Department of Medical Informatics and Epidemiology, and Oregon Health and Science University Library, Oregon Health and Science University, Portland, Oregon 97239 haendel@ohsu.edu.
authors: Melissa A
authors: 0000-0001-9114-8737
authors: MA
authors: Haendel
mesh_terms: D019295:Computational Biology; D030541:Databases, Genetic; D056726:Genetic Association Studies; D023281:Genomics; D006801:Humans; D057285:Precision Medicine; D017422:Sequence Analysis, DNA; D020539:Sequence Analysis, Protein
keywords: comparative medicine; data integration; disease diagnosis; disease discovery; phenotype ontologies