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In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven’t been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics.

Imagine if we could compute across phenotype data as easily as genomic data; this article calls for efforts to realize this vision and discusses the potential benefits.

Clonal cultures of plankton are widely used in laboratory experiments and have contributed greatly to knowledge of microbial systems. However, many physiological characteristics vary drastically between strains of the same species, calling into question our ability to make ecologically relevant inferences about populations based on studying one or a few strains. This study included nineteen non-axenic strains of three species of the diatom Pseudo-nitzschia isolated primarily from the mid-Atlantic coastal region of the United States.Toxin (domoic acid) production and growth rates were measured in cultures using different nitrogen sources (NH 4 + , NO 3 ⎯ and urea) and growth irradiances. The strains exhibited broad differences in growth rate and toxin content even between strains isolated from the same water sample. The influence of bacteria on toxin production was not investigated. Both P. multiseries clones produced toxin, yet preferentially used different nitrogen sources. Only two out of nine P. calliantha and two out of five P. fraudulenta isolates were toxic and domoic acid content varied by orders of magnitude. All three species had variable intraspecies growth rates on each nitrogen source, but P. fraudulenta strains had the broadest range. Light-limited growth rate and maximum growth rate in P. fraudulenta and P. multiseries varied with species. These findings show the importance of defining intra-and interspecies variability in ecophysiology and toxicity.Ecologically relevant functional diversity in the form of ecotypes or cryptic species appears to be present in the genus Pseudo-nitzschia.