Targeted long-read sequencing of native DNA for comprehensive characterization of repeat expansions

Author(s): Sarah B Kingan¹, Guilherme De Sena Brandine¹, Jocelyne Bruand¹, Jeff Zhou¹, Valeriya Gaysinskaya¹, Janet Aiyedun¹, Julian Rocha¹, Duncan Kilburn¹, Egor Dolzhenko¹, Zoi Kontogeorgiou², Anita Szabo³, Christina Zarouchlioti³, Robert Thaenert⁴, Pilar Alvarez Jerez⁵, Kimberley Billingsley⁵, Sonia Lameiras⁶, Sylvain Baulande⁶, Alice Davidson³, Georgios Koutsis⁷, Georgia Karadima², Stéphanie Tomé⁸, Michael A Eberle¹ 1. Pacific Biosciences (PacBio), Menlo Park, United States, 2. National and Kapodistrian University of Athens, 1st Department of Neurology, Athens, Greece, 3. University College London, Institute of Ophthalmology, United Kingdom, 4. Quest Diagnostics, Marlborough, United States, 5. National Institutes of Health, Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, United States, 6. Institut Curie, PSL Research University, ICGex Next-Generation Sequencing Platform, Paris, France, 7. National and Kapodistrian University of Athens, Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, School of Medicine, Athens, Greece 8. Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en myologie, Paris, France

Organization:
Year: 2024

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