Am J Hum Genet 2021 Mar 29. Epub 2021 Mar 29.
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR 7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U 1258, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; USIAS University of Strasbourg Institute of Advanced study, 67000 Strasbourg, France. Electronic address:
Tandem repeats represent one of the most abundant class of variations in human genomes, which are polymorphic by nature and become highly unstable in a length-dependent manner. The expansion of repeat length across generations is a well-established process that results in human disorders mainly affecting the central nervous system. At least 50 disorders associated with expansion loci have been described to date, with half recognized only in the last ten years, as prior methodological difficulties limited their identification. Read More