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Egor Dolzhenko

Showing results (51-60 of 68) with videos related to

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Nature|December 14, 2022
Recurrent repeat expansions in human cancer genomesGraham S Erwin, Gamze Gürsoy, Rashid Al-Abri, et al.
American Journal of Human Genetics|April 28, 2026
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samplesJoseph M Devaney, Jessica X Chong, Patricia C Lopes, et al.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
American Journal of Human Genetics|June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Nature|October 1, 2020
Repeat expansions confer WRN dependence in microsatellite-unstable cancersNiek van Wietmarschen, Sriram Sridharan, William J Nathan, et al.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
Nature Methods|August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variantsZev Kronenberg, Cillian Nolan, David Porubsky, et al.
Nature|July 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Worrawat Engchuan, Charlotte M Nguyen, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
Nature|December 14, 2022
Recurrent repeat expansions in human cancer genomesGraham S Erwin, Gamze Gürsoy, Rashid Al-Abri, et al.
American Journal of Human Genetics|April 28, 2026
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samplesJoseph M Devaney, Jessica X Chong, Patricia C Lopes, et al.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
American Journal of Human Genetics|June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Nature|October 1, 2020
Repeat expansions confer WRN dependence in microsatellite-unstable cancersNiek van Wietmarschen, Sriram Sridharan, William J Nathan, et al.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
Nature Methods|August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variantsZev Kronenberg, Cillian Nolan, David Porubsky, et al.
Nature|July 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Worrawat Engchuan, Charlotte M Nguyen, et al.
Pageof 7