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Heidi L Rehm

Showing results (101-110 of 342) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes ProjectEleanor G Seaby, Gary Leggatt, Guo Cheng, et al.
Genome Medicine|March 27, 2025
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease lociLaurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2022
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genesEleanor G Seaby, Damian Smedley, Ana Lisa Taylor Tavares, et al.
Journal of Biomedical Informatics|April 24, 2012
Usability of a novel clinician interface for genetic resultsPamela M Neri, Stephanie E Pollard, Lynn A Volk, et al.
Nature Genetics|July 29, 2024
Guidance for estimating penetrance of monogenic disease-causing variants in population cohortsCaroline F Wright, Luke N Sharp, Leigh Jackson, et al.
The Journal of Infectious Diseases|July 13, 2021
Cross-Sectional Assessment of SARS-CoV-2 Viral Load by Symptom Status in Massachusetts Congregate Living FacilitiesNiall J Lennon, Roby P Bhattacharyya, Michael J Mina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes ProjectEleanor G Seaby, Gary Leggatt, Guo Cheng, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVarDanielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2018
Development of a consent resource for genomic data sharing in the clinical settingErin Rooney Riggs, Danielle R Azzariti, Annie Niehaus, et al.
Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
Pageof 35

Showing results (101-110 of 342) with videos related to

Sort By:
Pageof 35
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes ProjectEleanor G Seaby, Gary Leggatt, Guo Cheng, et al.
Genome Medicine|March 27, 2025
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease lociLaurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2022
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genesEleanor G Seaby, Damian Smedley, Ana Lisa Taylor Tavares, et al.
Journal of Biomedical Informatics|April 24, 2012
Usability of a novel clinician interface for genetic resultsPamela M Neri, Stephanie E Pollard, Lynn A Volk, et al.
Nature Genetics|July 29, 2024
Guidance for estimating penetrance of monogenic disease-causing variants in population cohortsCaroline F Wright, Luke N Sharp, Leigh Jackson, et al.
The Journal of Infectious Diseases|July 13, 2021
Cross-Sectional Assessment of SARS-CoV-2 Viral Load by Symptom Status in Massachusetts Congregate Living FacilitiesNiall J Lennon, Roby P Bhattacharyya, Michael J Mina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes ProjectEleanor G Seaby, Gary Leggatt, Guo Cheng, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVarDanielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2018
Development of a consent resource for genomic data sharing in the clinical settingErin Rooney Riggs, Danielle R Azzariti, Annie Niehaus, et al.
Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
Pageof 35