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Author Details
Full Name
Tristan Nelson
Affiliation
Genomic Medicine Institute
ORCID
Career Start Year
2012
Papers
13
H Index
8
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36540993
Development and application of a computable genotype model in the GA4GH Variation Representation Specification.
Pac Symp Biocomput
2023
36541006
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Pac Symp Biocomput
2023
35311178
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.
Cell Genom
2021
35072136
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
2021
30311374
ClinGen Allele Registry links information about genetic variants.
Hum Mutat
2018
30095202
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
2018
28081714
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Genome Med
2017
27579472
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.
Appl Clin Inform
2016
26418054
Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.
Clin Pharmacol Ther
2016
23999671
A literature search tool for intelligent extraction of disease-associated genes.
J Am Med Inform Assoc
2014
23032609
Cloud computing for comparative genomics with windows azure platform.
Evol Bioinform Online
2012
23190421
Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genes.
BMC Med Genet
2012
23190929
Autworks: a cross-disease network biology application for Autism and related disorders.
BMC Med Genomics
2012
1 - 13 of 13
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