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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.Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Closing the gap: Solving complex medically relevant genes at scaleMedhat Mahmoud, John Harting, Holly Corbitt, 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.Nature|December 14, 2022
Recurrent repeat expansions in human cancer genomesGraham S Erwin, Gamze Gürsoy, Rashid Al-Abri, et al.BMC Medical Genomics|October 25, 2024
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease riskSairam Behera, Jonathan R Belyeu, Xiao Chen, 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|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.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.Pageof 7