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Erin R Riggs

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

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Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Current Protocols in Human Genetics|April 3, 2016
Using ClinVar as a Resource to Support Variant InterpretationSteven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
American Journal of Human Genetics|January 10, 2025
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome ResourceAlice B Popejoy, Deborah I Ritter, Danielle Azzariti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, 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.
Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.
Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.
Pageof 1

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

Sort By:
Pageof 1
Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Current Protocols in Human Genetics|April 3, 2016
Using ClinVar as a Resource to Support Variant InterpretationSteven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
American Journal of Human Genetics|January 10, 2025
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome ResourceAlice B Popejoy, Deborah I Ritter, Danielle Azzariti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, 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.
Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.
Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.
Pageof 1