Detalhe da pesquisa
1.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hum Mutat
; 43(6): 800-811, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181971
2.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
3.
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Genet Med
; 24(1): 100-108, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906465
4.
The Human Phenotype Ontology in 2017.
Nucleic Acids Res
; 45(D1): D865-D876, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899602
5.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562225
6.
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Hum Mutat
; 36(10): 922-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26255989
7.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251998
8.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Hum Mutat
; 36(10): 915-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26295439
9.
Unsupervised pattern discovery in human chromatin structure through genomic segmentation.
Nat Methods
; 9(5): 473-6, 2012 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426492
10.
Identification of deleterious synonymous variants in human genomes.
Bioinformatics
; 29(15): 1843-50, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23736532
11.
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Orphanet J Rare Dis
; 18(1): 109, 2023 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161573
12.
Exploratory analysis of genomic segmentations with Segtools.
BMC Bioinformatics
; 12: 415, 2011 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22029426
13.
The Genomedata format for storing large-scale functional genomics data.
Bioinformatics
; 26(11): 1458-9, 2010 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20435580
14.
Identification of deleterious synonymous variants in human genomes.
Bioinformatics
; 31(5): 799, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25488928
15.
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
; 1(2)2021 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35072136
16.
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Curr Protoc Hum Genet
; 103(1): e92, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479590
17.
Matchmaker Exchange.
Curr Protoc Hum Genet
; 95: 9.31.1-9.31.15, 2017 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044468
18.
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol
; 40(6): 817-820, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705716
19.
Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.
Nat Struct Mol Biol
; 23(6): 566-73, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159559
20.
Next-generation diagnostics and disease-gene discovery with the Exomiser.
Nat Protoc
; 10(12): 2004-15, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562621