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http://hdl.handle.net/10609/70654
Title: | Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients |
Author: | Spataro, Nino Roca-Umbert, Ana Cervera Carles, Laura Vallés Valero, Mònica Anglada Busquets, Roger Pascual Sedano, Berta María Campolongo, Antonia Kulisevsky, Jaime Casals, Ferran Clarimón, Jordi Bosch Fusté, Elena Pagonabarraga Mora, Javier |
Citation: | Spataro, N., Roca-Umbert, A., Cervera-Carles, L., Vallès, M., Anglada, R., Pagonabarraga, J., Pascual Sedano, B.M., Campolongo, A., Kulisevsky, J., Casals, F., Clarimon, J. & Bosch, E. (2017). "Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients". Movement Disorders, 32(1), pp. 165-169. ISSN 0885-3185. doi: 10.1002/mds.26845 |
Abstract: | The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. Gene dose alterations were detected with the eXome-Hidden Markov Model (XHMM) software from depth of coverage in resequencing data available for 38 Mendelian and other risk PD loci in 394 individuals (249 cases and 145 controls) and subsequently validated by quantitative PCR. We identified 10 PD patients with exon dosage alterations in PARK2, GBA-GBAP1, and DJ1. Additional functional variants, including 2 novel nonsense mutations (p.Arg1552Ter in LRRK2 and p.Trp90Ter in PINK1), were confirmed by Sanger sequencing. This combined approach disclosed the genetic cause of 12 PD cases. Gene dose alterations related to PD can be correctly identified from targeting resequencing data. This approach substantially improves the detection rate of cases with causal genetic alterations. |
Keywords: | Parkinson's disease next generation sequencing structural variants XHMM software |
DOI: | 10.1002/mds.26845 |
Document type: | info:eu-repo/semantics/article |
Issue Date: | Jan-2017 |
Publication license: | https://creativecommons.org/licenses/by/4.0/ |
Appears in Collections: | Articles Articles cientÍfics |
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Spataro_MD17_Detection.pdf | 350,22 kB | Adobe PDF | View/Open |
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