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Glen Lester Sequiera

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Articles

Toward the clinical application of long-read sequencing in repeat-expansion disorders

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By Louise Benarroch, Jovan Pešović, Marzia Rossato, Zhongbo Chen, Morghan C. Lucas, Guillaume Cogan, Indhu-Shree Rajan-Babu, Vitus Prokosch, Christina Zarouchlioti, Marco Carlomagno, Ida Höijer, Mayra Sauer, Shota Shibata, Benjamin P. Kleinstiver, Sonia Lameiras, Ricardo PInto, Giuseppe Novelli, Davina Hensman Moss, Natalia Dominik, Mathieu Barbier, Isabelle Le Ber, Guillaume Bassez, Denis Furling, Massimo Delledonne, Karen Usdin, Sylvain Baulande, Genevieve Gourdon, Birgitt Schüle, Dusanka Savic-Pavicevic, Annalisa Botta, Alice Davidson, Adam Ameur, Vincent Dion, Stephanie Tomé, Ismail Jamail, Glen Lester Sequiera
| Nature Verified
Abstract Repeat-expansion disorders (REDs) are a mechanistically and clinically well-defined subgroup of rare diseases caused by the expansion of short tandem repeats (STRs). These expansions can exceed several kilobases and show complex features, such as noncanonical secondary structures, somatic instability, repeat interruptions and allele-specific methylation.
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