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Heidi L Rehm

Showing results (161-170 of 342) with videos related to

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American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2016
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)Kelly E Caudle, Henry M Dunnenberger, Robert R Freimuth, et al.
Cell Genomics|February 7, 2022
International federation of genomic medicine databases using GA4GH standardsAdrian Thorogood, Heidi L Rehm, Peter Goodhand, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.
The Journal of Molecular Diagnostics : JMD|August 11, 2018
Curating Clinically Relevant Transcripts for the Interpretation of Sequence VariantsMarina T DiStefano, Sarah E Hemphill, Brandon J Cushman, 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.
Circulation. Cardiovascular Genetics|October 15, 2017
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy PatientsAllison L Cirino, Neal K Lakdawala, Barbara McDonough, 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.
Public Health Genomics|January 24, 2015
A one-page summary report of genome sequencing for the healthy adultJason L Vassy, Heather M McLaughlin, Heather L McLaughlin, et al.
Pageof 35

Showing results (161-170 of 342) with videos related to

Sort By:
Pageof 35
American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2016
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)Kelly E Caudle, Henry M Dunnenberger, Robert R Freimuth, et al.
Cell Genomics|February 7, 2022
International federation of genomic medicine databases using GA4GH standardsAdrian Thorogood, Heidi L Rehm, Peter Goodhand, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.
The Journal of Molecular Diagnostics : JMD|August 11, 2018
Curating Clinically Relevant Transcripts for the Interpretation of Sequence VariantsMarina T DiStefano, Sarah E Hemphill, Brandon J Cushman, 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.
Circulation. Cardiovascular Genetics|October 15, 2017
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy PatientsAllison L Cirino, Neal K Lakdawala, Barbara McDonough, 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.
Public Health Genomics|January 24, 2015
A one-page summary report of genome sequencing for the healthy adultJason L Vassy, Heather M McLaughlin, Heather L McLaughlin, et al.
Pageof 35