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1.
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat
; 43(6): 698-707, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35266241
2.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35507016
3.
Genomic considerations for FHIR®; eMERGE implementation lessons.
J Biomed Inform
; 118: 103795, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33930535
4.
ClinGen advancing genomic data-sharing standards as a GA4GH driver project.
Hum Mutat
; 39(11): 1686-1689, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30311379
5.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci
; 2024 Apr 25.
Article
in English
| MEDLINE | ID: mdl-38663031
6.
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Pac Symp Biocomput
; 28: 531-535, 2023.
Article
in English
| MEDLINE | ID: mdl-36541006
7.
Development and application of a computable genotype model in the GA4GH Variation Representation Specification.
Pac Symp Biocomput
; 28: 383-394, 2023.
Article
in English
| MEDLINE | ID: mdl-36540993
8.
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.
Learn Health Syst
; 7(4): e10385, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37860057
9.
Communicating new knowledge on previously reported genetic variants.
Genet Med
; 14(8): 713-719, 2012.
Article
in English
| MEDLINE | ID: mdl-22481129
10.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Genome Med
; 14(1): 6, 2022 01 18.
Article
in English
| MEDLINE | ID: mdl-35039090
11.
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.
Hum Mutat
; 32(5): 532-6, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21432942
12.
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.
Cell Genom
; 1(2)2021 Nov 10.
Article
in English
| MEDLINE | ID: mdl-35311178
13.
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
; 1(2)2021 Nov 10.
Article
in English
| MEDLINE | ID: mdl-35072136
14.
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
J Am Med Inform Assoc
; 25(10): 1375-1381, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-29860405
15.
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.
J Mol Diagn
; 19(3): 417-426, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28315672
16.
Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.
J Pers Med
; 6(1)2016 Jan 20.
Article
in English
| MEDLINE | ID: mdl-26805890
17.
A novel clinician interface to improve clinician access to up-to-date genetic results.
J Am Med Inform Assoc
; 21(e1): e117-21, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24013137
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