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Lawrence Babb

Showing results (1-10 of 13) with videos related to

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Journal of Personalized Medicine|January 26, 2016
Information Technology Support for Clinical Genetic Testing within an Academic Medical CenterSamuel Aronson, Lisa Mahanta, Lei Lei Ros, et al.
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.
Learning Health Systems|October 20, 2023
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variantsRobert Dolin, Bret S E Heale, Rohan Gupta, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2026
The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant CategoriesDaniel Puthawala, Brendan Reardon, Lawrence Babb, et al.
Human Mutation|October 13, 2018
ClinGen advancing genomic data-sharing standards as a GA4GH driver projectLena Dolman, Angela Page, Lawrence Babb, 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|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, 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.
Journal of the American Medical Informatics Association : JAMIA|June 4, 2018
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE exampleSamuel Aronson, Lawrence Babb, Darren Ames, 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 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Journal of Personalized Medicine|January 26, 2016
Information Technology Support for Clinical Genetic Testing within an Academic Medical CenterSamuel Aronson, Lisa Mahanta, Lei Lei Ros, et al.
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.
Learning Health Systems|October 20, 2023
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variantsRobert Dolin, Bret S E Heale, Rohan Gupta, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2026
The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant CategoriesDaniel Puthawala, Brendan Reardon, Lawrence Babb, et al.
Human Mutation|October 13, 2018
ClinGen advancing genomic data-sharing standards as a GA4GH driver projectLena Dolman, Angela Page, Lawrence Babb, 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|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, 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.
Journal of the American Medical Informatics Association : JAMIA|June 4, 2018
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE exampleSamuel Aronson, Lawrence Babb, Darren Ames, 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 2