Finding our way through phenotypes

AR Deans, SE Lewis, E Huala, SS Anzaldo… - PLoS …, 2015 - journals.plos.org
Despite a large and multifaceted effort to understand the vast landscape of phenotypic data,
their current form inhibits productive data analysis. The lack of a community-wide …

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

CJ Mungall, JA McMurry, S Köhler… - Nucleic acids …, 2017 - academic.oup.com
The correlation of phenotypic outcomes with genetic variation and environmental factors is a
core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient …

[PDF][PDF] The human phenotype ontology in 2017

S Kohler, NA Vasilevsky, M Engelstad, E Foster… - 2017 - repository.ubn.ru.nl
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Toward synthesizing our knowledge of morphology: using ontologies and machine reasoning to extract presence/absence evolutionary phenotypes across studies

TA Dececchi, JP Balhoff, H Lapp… - Systematic biology, 2015 - academic.oup.com
The reality of larger and larger molecular databases and the need to integrate data scalably
have presented a major challenge for the use of phenotypic data. Morphology is currently …

The human phenotype ontology in 2017

S Köhler, NA Vasilevsky, M Engelstad… - Nucleic acids …, 2017 - academic.oup.com
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

[HTML][HTML] Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

S Köhler, SC Doelken, BJ Ruef, S Bauer… - …, 2013 - ncbi.nlm.nih.gov
Phenotype analyses, eg investigating metabolic processes, tissue formation, or organism
behavior, are an important element of most biological and medical research activities …

Creation and implications of a phenome-genome network

AJ Butte, IS Kohane - Nature biotechnology, 2006 - nature.com
Although gene and protein measurements are increasing in quantity and
comprehensiveness, they do not characterize a sample's entire phenotype in an …

Mouse Phenome Database: towards a more FAIR-compliant and TRUST-worthy data repository and tool suite for phenotypes and genotypes

MA Bogue, RL Ball, VM Philip, DO Walton… - Nucleic acids …, 2023 - academic.oup.com
Abstract The Mouse Phenome Database (MPD; https://phenome. jax. org; RRID:
SCR_003212), supported by the US National Institutes of Health, is a Biomedical Data …

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

KA Shefchek, NL Harris, M Gargano… - Nucleic acids …, 2020 - academic.oup.com
In biology and biomedicine, relating phenotypic outcomes with genetic variation and
environmental factors remains a challenge: patient phenotypes may not match known …

MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome

J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan… - The American Journal of …, 2017 - cell.com
One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes …