Detalhe da pesquisa
1.
GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies.
Nucleic Acids Res
; 51(D1): D986-D993, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350644
2.
Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.
Hum Mutat
; 43(6): 791-799, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297548
3.
GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies.
Nucleic Acids Res
; 48(D1): D933-D940, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612961
4.
Array-based dynamic allele specific hybridization (Array-DASH): Optimization-free microarray processing for multiple simultaneous genomic assays.
Anal Biochem
; 626: 114124, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607059
5.
Human genotype-phenotype databases: aims, challenges and opportunities.
Nat Rev Genet
; 16(12): 702-15, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26553330
6.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Am J Hum Genet
; 100(5): 695-705, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475856
7.
The sputum microbiome is distinct between COPD and health, independent of smoking history.
Respir Res
; 21(1): 183, 2020 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32664956
8.
Twelve quick tips for deploying a Beacon.
PLoS Comput Biol
; 20(3): e1011817, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427629
9.
Consent Codes: Upholding Standard Data Use Conditions.
PLoS Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-26796797
10.
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
Hum Mutat
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em Inglês
| MEDLINE | ID: mdl-28967166
11.
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
Am J Hum Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-26119816
12.
Sputum microbiome temporal variability and dysbiosis in chronic obstructive pulmonary disease exacerbations: an analysis of the COPDMAP study.
Thorax
; 73(4): 331-338, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269441
13.
European Prevention of Alzheimer's Dementia Registry: Recruitment and prescreening approach for a longitudinal cohort and prevention trials.
Alzheimers Dement
; 14(6): 837-842, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604264
14.
Blood and sputum eosinophils in COPD; relationship with bacterial load.
Respir Res
; 18(1): 88, 2017 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28482840
15.
The BioMart community portal: an innovative alternative to large, centralized data repositories.
Nucleic Acids Res
; 43(W1): W589-98, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25897122
16.
Characteristics and longitudinal progression of chronic obstructive pulmonary disease in GOLD B patients.
BMC Pulm Med
; 17(1): 42, 2017 02 20.
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em Inglês
| MEDLINE | ID: mdl-28219428
17.
Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.
Hum Mutat
; 37(10): 1110-3, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27492570
18.
Data Safe Havens in health research and healthcare.
Bioinformatics
; 31(20): 3241-8, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26112289
19.
Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis.
Nat Genet
; 39(2): 153-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17262030
20.
Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.
Hum Mutat
; 36(10): 957-64, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224250