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November 25, 2024

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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