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Steven M Harrison

Showing results (51-60 of 63) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)David T Miller, Kristy Lee, Adam S Gordon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)David T Miller, Kristy Lee, Wendy K Chung, et al.
NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)David T Miller, Kristy Lee, Wendy K Chung, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
BMC Research Notes|March 3, 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testingJianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Research Square|October 4, 2023
Genetic Sex Validation for Sample Tracking in Clinical TestingJianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Human Mutation|October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachSteven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

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Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)David T Miller, Kristy Lee, Adam S Gordon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)David T Miller, Kristy Lee, Wendy K Chung, et al.
NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)David T Miller, Kristy Lee, Wendy K Chung, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
BMC Research Notes|March 3, 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testingJianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Research Square|October 4, 2023
Genetic Sex Validation for Sample Tracking in Clinical TestingJianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Human Mutation|October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachSteven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Pageof 7