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Heidi L Rehm

Showing results (91-100 of 342) with videos related to

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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.
Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.
Genome Research|May 30, 2023
Discordant calls across genotype discovery approaches elucidate variants with systematic errorsElizabeth G Atkinson, Mykyta Artomov, Alexander A Loboda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing dataTrevor J Pugh, Sami S Amr, Mark J Bowser, et al.
Human Genetics|December 8, 2022
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes ProjectEleanor G Seaby, N Simon Thomas, Amy Webb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2014
Summarizing polygenic risks for complex diseases in a clinical whole-genome reportSek Won Kong, In-Hee Lee, Ignaty Leshchiner, et al.
Human Mutation|December 3, 2021
Variant interpretation using population databases: Lessons from gnomADSanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 1, 2002
Vascular defects and sensorineural deafness in a mouse model of Norrie diseaseHeidi L Rehm, Duan-Sun Zhang, M Christian Brown, et al.
Arxiv|September 2, 2025
Improving the FAIRness and Sustainability of the NHGRI Resources EcosystemLarry Babb, Carol Bult, Vincent J Carey, et al.
Human Mutation|October 8, 2015
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 LocusAhmad N Abou Tayoun, Heather Mason-Suares, Ashley L Frisella, et al.
Pageof 35

Showing results (91-100 of 342) with videos related to

Sort By:
Pageof 35
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.
Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.
Genome Research|May 30, 2023
Discordant calls across genotype discovery approaches elucidate variants with systematic errorsElizabeth G Atkinson, Mykyta Artomov, Alexander A Loboda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing dataTrevor J Pugh, Sami S Amr, Mark J Bowser, et al.
Human Genetics|December 8, 2022
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes ProjectEleanor G Seaby, N Simon Thomas, Amy Webb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2014
Summarizing polygenic risks for complex diseases in a clinical whole-genome reportSek Won Kong, In-Hee Lee, Ignaty Leshchiner, et al.
Human Mutation|December 3, 2021
Variant interpretation using population databases: Lessons from gnomADSanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 1, 2002
Vascular defects and sensorineural deafness in a mouse model of Norrie diseaseHeidi L Rehm, Duan-Sun Zhang, M Christian Brown, et al.
Arxiv|September 2, 2025
Improving the FAIRness and Sustainability of the NHGRI Resources EcosystemLarry Babb, Carol Bult, Vincent J Carey, et al.
Human Mutation|October 8, 2015
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 LocusAhmad N Abou Tayoun, Heather Mason-Suares, Ashley L Frisella, et al.
Pageof 35