Improving the classification of cardinality phenotypes using collections

BFO: Basic Formal Ontology1

(2022) J. Neil Otte et al.   Applied Ontology

Contribution of model organism phenotypes to the computational identification of human disease genes

(2022) Sarah M. Alghamdi et al.   Disease Models & Mechanisms

Online Mendelian Inheritance in Man ( OMIM ®): Victor McKusick 's magnum opus

(2021) Ada Hamosh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning

(2021) Azza Althagafi et al.   BIOINFORMATICS

What is a phenotype? History and new developments of the concept

(2021) Dominique de Vienne   GENETICA

Mouse Genome Informatics (MGI): latest news from MGD and GXD

(2021) Martin Ringwald et al.   MAMMALIAN GENOME

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

Array programming with NumPy

(2020) Charles R. Harris et al.   NATURE

The Human Phenotype Ontology in 2021

(2020) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

DeepPVP: phenotype-based prioritization of causative variants using deep learning

(2019) Imane Boudellioua et al.   BMC BIOINFORMATICS

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

(2019) Kent A Shefchek et al.   NUCLEIC ACIDS RESEARCH

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

(2016) Damian Smedley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-generation diagnostics and disease-gene discovery with the Exomiser

(2015) Damian Smedley et al.   Nature Protocols

Finding Our Way through Phenotypes

(2015) Andrew R. Deans et al.   PLOS BIOLOGY

Konclude: System description

(2014) Andreas Steigmiller et al.   Journal of Web Semantics

The semantic measures library and toolkit: fast computation of semantic similarity and relatedness using biomedical ontologies

(2013) S. Harispe et al.   BIOINFORMATICS

MouseFinder: Candidate disease genes from mouse phenotype data

(2012) Chao-Kung Chen et al.   HUMAN MUTATION

Uberon, an integrative multi-species anatomy ontology

(2012) Christopher J Mungall et al.   GENOME BIOLOGY

PhenomeNET: a whole-phenome approach to disease gene discovery

(2011) R. Hoehndorf et al.   NUCLEIC ACIDS RESEARCH

Interoperability between phenotype and anatomy ontologies

(2010) R. Hoehndorf et al.   BIOINFORMATICS

Ontology-based information content computation

(2010) David Sánchez et al.   KNOWLEDGE-BASED SYSTEMS

Integrating phenotype ontologies across multiple species

(2010) Christopher J Mungall et al.   GENOME BIOLOGY

Semantic Similarity in Biomedical Ontologies

(2009) Catia Pesquita et al.   PLoS Computational Biology

OWL 2: The next step for OWL

(2008) Bernardo Cuenca Grau et al.   Journal of Web Semantics