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American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.Nature Biotechnology|March 13, 2019
Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.Nature Biotechnology|March 23, 2019
Author Correction: Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.Nature Communications|March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencingXiao Chen, Daniel Baker, Egor Dolzhenko, et al.American Journal of Human Genetics|May 21, 2019
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington DiseaseGalen E B Wright, Jennifer A Collins, Chris Kay, et al.Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, 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.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.Pageof 7