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

American journal of human genetics, 2016-09, Vol.99 (3), p.595-606

2016

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MSAViewer: interactive JavaScript visualization of multiple sequence alignments

Bioinformatics (Oxford, England), 2016-11, Vol.32 (22), p.3501-3503

2016

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Apollo: Democratizing genome annotation

PLoS computational biology, 2019-02, Vol.15 (2), p.e1006790-e1006790

2019

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

Nucleic acids research, 2017-01, Vol.45 (D1), p.D712-D722

2017

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Improved exome prioritization of disease genes through cross-species phenotype comparison

Genome research, 2014-02, Vol.24 (2), p.340-348

2014

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Linking human diseases to animal models using ontology-based phenotype annotation

PLoS biology, 2009-11, Vol.7 (11), p.e1000247-e1000247

2009

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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Science translational medicine, 2014-09, Vol.6 (252), p.252ra123

2014

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On the Use of Gene Ontology Annotations to Assess Functional Similarity among Orthologs and Paralogs: A Short Report

PLoS computational biology, 2012-02, Vol.8 (2), p.e1002386-e1002386

2012

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Web Apollo: a web-based genomic annotation editing platform

Genome biology, 2013-08, Vol.14 (8), p.R93-R93, Article R93

2013

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Navigating the Phenotype Frontier: The Monarch Initiative

Genetics (Austin), 2016-08, Vol.203 (4), p.1491-1495

2016

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Systematic determination of patterns of gene expression during Drosophila embryogenesis

Genome biology, 2002-12, Vol.3 (12), p.RESEARCH0088-RESEARCH0088, Article research0088.1

2002

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Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon

Journal of biomedical semantics, 2014-05, Vol.5 (1), p.21-21

2014

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The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective

Genome biology, 2002-12, Vol.3 (12), p.RESEARCH0084-0084, Article research0084.1

2002

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Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

Human mutation, 2015-10, Vol.36 (10), p.979-984

2015

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Uberon, an integrative multi-species anatomy ontology

Genome biology, 2012-01, Vol.13 (1), p.R5-R5, Article R5

2012

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JBrowse: a dynamic web platform for genome visualization and analysis

Genome Biology, 2016-04, Vol.17 (1), p.66-66, Article 66

2016

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Survey-based naming conventions for use in OBO Foundry ontology development

BMC bioinformatics, 2009-04, Vol.10 (1), p.125-125, Article 125

2009

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The Vision and Challenges of the Gene Ontology

Methods in molecular biology (Clifton, N.J.), 2017, Vol.1446, p.291

Lewis, Suzanna E

2017

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The Sequence Ontology: a tool for the unification of genome annotations

Genome biology, 2005-01, Vol.6 (5), p.R44-R44, Article R44

2005

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Disease insights through cross-species phenotype comparisons

Mammalian Genome, 2015-10, Vol.26 (9-10), p.548-555

2015

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The environment ontology: contextualising biological and biomedical entities

Journal of biomedical semantics, 2013-12, Vol.4 (1), p.43-43

2013

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Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Briefings in bioinformatics, 2011-09, Vol.12 (5), p.449-462

2011

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Gene Ontology Causal Activity Modeling (GO-CAM) moves beyond GO annotations to structured descriptions of biological functions and systems

Nature genetics, 2019-10, Vol.51 (10), p.1429-1433

2019

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Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [version 2; peer review: 3 approved]

F1000 research, 2014-01, Vol.2, p.30-30

2014

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The environment ontology in 2016: bridging domains with increased scope, semantic density, and interoperation

Journal of biomedical semantics, 2016-09, Vol.7 (1), p.57, Article 57

2016

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

MSAViewer: interactive JavaScript visualization of multiple sequence alignments

Apollo: Democratizing genome annotation

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

Improved exome prioritization of disease genes through cross-species phenotype comparison

Linking human diseases to animal models using ontology-based phenotype annotation

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

On the Use of Gene Ontology Annotations to Assess Functional Similarity among Orthologs and Paralogs: A Short Report

Web Apollo: a web-based genomic annotation editing platform

Navigating the Phenotype Frontier: The Monarch Initiative

Systematic determination of patterns of gene expression during Drosophila embryogenesis

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon

The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective

Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

Uberon, an integrative multi-species anatomy ontology

JBrowse: a dynamic web platform for genome visualization and analysis

Survey-based naming conventions for use in OBO Foundry ontology development

The Vision and Challenges of the Gene Ontology

The Sequence Ontology: a tool for the unification of genome annotations

Disease insights through cross-species phenotype comparisons

The environment ontology: contextualising biological and biomedical entities

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Gene Ontology Causal Activity Modeling (GO-CAM) moves beyond GO annotations to structured descriptions of biological functions and systems

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [version 2; peer review: 3 approved]

The environment ontology in 2016: bridging domains with increased scope, semantic density, and interoperation

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