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Tristan Nelson

Showing results (1-10 of 8) with videos related to

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BMC Medical Genetics|November 30, 2012
Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genesMarlena Duda, Tristan Nelson, Dennis P Wall
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing|December 21, 2022
Accessing clinical-grade genomic classification data through the ClinGen Data PlatformKaren P Dalton, Heidi L Rehm, Matt W Wright, et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing|December 21, 2022
Development and application of a computable genotype model in the GA4GH Variation Representation SpecificationWesley Goar, Lawrence Babb, Srikar Chamala, et al.
Human Mutation|October 13, 2018
ClinGen Allele Registry links information about genetic variantsPiotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, et al.
Genome Medicine|January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variantsRonak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Annual Review of Biomedical Data Science|April 25, 2024
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data PlatformsMatt W Wright, Courtney L Thaxton, Tristan Nelson, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
BMC Medical Genetics|November 30, 2012
Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genesMarlena Duda, Tristan Nelson, Dennis P Wall
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing|December 21, 2022
Accessing clinical-grade genomic classification data through the ClinGen Data PlatformKaren P Dalton, Heidi L Rehm, Matt W Wright, et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing|December 21, 2022
Development and application of a computable genotype model in the GA4GH Variation Representation SpecificationWesley Goar, Lawrence Babb, Srikar Chamala, et al.
Human Mutation|October 13, 2018
ClinGen Allele Registry links information about genetic variantsPiotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, et al.
Genome Medicine|January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variantsRonak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Annual Review of Biomedical Data Science|April 25, 2024
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data PlatformsMatt W Wright, Courtney L Thaxton, Tristan Nelson, et al.
Pageof 1