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Author Details

Tristan Nelson
Genomic Medicine Institute
2012
13
8
PMIDPaper TitleJournal TitlePublished Year
36540993Development and application of a computable genotype model in the GA4GH Variation Representation Specification.Pac Symp Biocomput2023
36541006Accessing clinical-grade genomic classification data through the ClinGen Data Platform.Pac Symp Biocomput2023
35311178The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
30311374ClinGen Allele Registry links information about genetic variants.Hum Mutat2018
30095202Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.Hum Mutat2018
28081714ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.Genome Med2017
27579472Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.Appl Clin Inform2016
26418054Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.Clin Pharmacol Ther2016
23999671A literature search tool for intelligent extraction of disease-associated genes.J Am Med Inform Assoc2014
23032609Cloud computing for comparative genomics with windows azure platform.Evol Bioinform Online2012
23190421Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genes.BMC Med Genet2012
23190929Autworks: a cross-disease network biology application for Autism and related disorders.BMC Med Genomics2012
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Collaborators

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Center for Individualized Medicine, Mayo Clinic
Co-authored papers 5
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University of Washington Medical Center
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Co-authored papers 3
Baylor College of Medicine
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Baylor College of Medicine
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Autism and Developmental Medicine Institute
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The Walter and Eliza Hall Institute of Medical Research
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Humanized Health Consulting LLC
Co-authored papers 2
Genomics England Ltd
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University of Utah
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Institute for Clinical & Translational Research.
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