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Egor Dolzhenko

Showing results (41-50 of 68) with videos related to

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Nature Genetics|September 23, 2024
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disabilityBharati Jadhav, Paras Garg, Joke J F A van Vugt, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
NPJ Parkinson'S Disease|July 26, 2024
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencingPilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, et al.
Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
Brain Communications|December 22, 2025
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosisJoke J F A van Vugt, Ramona A J Zwamborn, Egor Dolzhenko, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Defining a tandem repeat catalog and variation clusters for genome-wide analysesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Bioinformatics (Oxford, England)|May 29, 2019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regionsEgor Dolzhenko, Viraj Deshpande, Felix Schlesinger, et al.
Nature Biotechnology|January 3, 2024
Characterization and visualization of tandem repeats at genome scaleEgor Dolzhenko, Adam English, Harriet Dashnow, et al.
American Journal of Human Genetics|April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Nature Genetics|September 23, 2024
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disabilityBharati Jadhav, Paras Garg, Joke J F A van Vugt, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
NPJ Parkinson'S Disease|July 26, 2024
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencingPilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, et al.
Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
Brain Communications|December 22, 2025
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosisJoke J F A van Vugt, Ramona A J Zwamborn, Egor Dolzhenko, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Defining a tandem repeat catalog and variation clusters for genome-wide analysesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Bioinformatics (Oxford, England)|May 29, 2019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regionsEgor Dolzhenko, Viraj Deshpande, Felix Schlesinger, et al.
Nature Biotechnology|January 3, 2024
Characterization and visualization of tandem repeats at genome scaleEgor Dolzhenko, Adam English, Harriet Dashnow, et al.
American Journal of Human Genetics|April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Pageof 7