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Steven M Harrison

Showing results (31-40 of 63) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2021
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)Michael F Murray, Monica A Giovanni, Debra L Doyle, et al.
Human Mutation|December 19, 2021
Harmonizing variant classification for return of results in the All of Us Research ProgramSteven M Harrison, Christina A Austin-Tse, Serra Kim, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
HGG Advances|January 14, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assayKate L Thomson, Connie Jiang, Ebony Richardson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
American Journal of Human Genetics|August 26, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

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Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2021
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)Michael F Murray, Monica A Giovanni, Debra L Doyle, et al.
Human Mutation|December 19, 2021
Harmonizing variant classification for return of results in the All of Us Research ProgramSteven M Harrison, Christina A Austin-Tse, Serra Kim, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
HGG Advances|January 14, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assayKate L Thomson, Connie Jiang, Ebony Richardson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
American Journal of Human Genetics|August 26, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
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