Detalhe da pesquisa
1.
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 48(D1): D704-D715, 2020 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31701156
2.
Apollo: Democratizing genome annotation.
PLoS Comput Biol
; 15(2): e1006790, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30726205
3.
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Am J Hum Genet
; 99(3): 595-606, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27569544
4.
Standardized benchmarking in the quest for orthologs.
Nat Methods
; 13(5): 425-30, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27043882
5.
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 45(D1): D712-D722, 2017 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27899636
6.
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
Am J Hum Genet
; 97(1): 111-24, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119816
7.
Finding our way through phenotypes.
PLoS Biol
; 13(1): e1002033, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25562316
8.
Improved exome prioritization of disease genes through cross-species phenotype comparison.
Genome Res
; 24(2): 340-8, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24162188
9.
MSAViewer: interactive JavaScript visualization of multiple sequence alignments.
Bioinformatics
; 32(22): 3501-3503, 2016 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27412096
10.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
; 42(Database issue): D966-74, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24217912
11.
Use of model organism and disease databases to support matchmaking for human disease gene discovery.
Hum Mutat
; 36(10): 979-84, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26269093
12.
Disease insights through cross-species phenotype comparisons.
Mamm Genome
; 26(9-10): 548-55, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26092691
13.
modMine: flexible access to modENCODE data.
Nucleic Acids Res
; 40(Database issue): D1082-8, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22080565
14.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Brief Bioinform
; 12(5): 449-62, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21873635
15.
Modelling data across labs, genomes, space and time.
Nat Cell Biol
; 8(11): 1190-4, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17060903
16.
On the Use of Gene Ontology Annotations to Assess Functional Similarity among Orthologs and Paralogs: A Short Report.
PLoS Comput Biol
; 8(2): e1002386, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22359495
17.
Towards BioDBcore: a community-defined information specification for biological databases.
Nucleic Acids Res
; 39(Database issue): D7-10, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21097465
18.
MouseFinder: Candidate disease genes from mouse phenotype data.
Hum Mutat
; 33(5): 858-66, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22331800
19.
Linking human diseases to animal models using ontology-based phenotype annotation.
PLoS Biol
; 7(11): e1000247, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19956802
20.
OBO Foundry in 2021: operationalizing open data principles to evaluate ontologies.
Database (Oxford)
; 20212021 10 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34697637