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Long-Read Sequencing for Detection and Subtyping of Prader-Willi and Angelman Syndromes
| Description: | Prader-Willi (PWS) and Angelman (AS) syndromes are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-13.3. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) or methylation-sensitive polymerase chain reaction (MS-PCR) and then proceeds to molecular subtyping to determine the mechanism and recurrence risk. Currently, correct classification of a proband’s PWS/AS subtype often requires parental samples, a costly process for families and health systems. We investigate genome-wide nanopore sequencing in a cohort of PWS (18) and AS (6) cases as a singular test to detect the molecular subtype, without parental data. |
| Authors: | Akbari, Vahid; Canada's Michael Smith Genome Sciences Centre;  0000-0001-8005-7776Dada, Sarah; Canada's Michael Smith Genome Sciences Centre; 0000-0002-3445-2377Shen, Yaoqing; Canada's Michael Smith Genome Sciences Centre Dixon, Katherine; Canada's Michael Smith Genome Sciences Centre; 0000-0002-7334-888XHejla, Duha; BC Children's Hospital Foundation Galbraith, Andrew; Canada's Michael Smith Genome Sciences Centre Choufani, Sanaa; Hospital for Sick Children Weksberg, Rosanna; Hospital for Sick Children; 0000-0002-6501-4150Boerkoel, Cornelius; University of British Columbia; 0000-0003-3097-241XStewart, Laura; BC Children's Hospital Foundation Gibson, William; BC Children's Hospital Foundation Jones, Steven; Canada's Michael Smith Genome Sciences Centre; 0000-0003-3394-2208 |
| Keywords: | Nanopore sequencing DNA methylation Imprinting Prader-Willi syndrome Angelman syndrome |
| Field of Research: | Biological sciences > Genetics > Molecular genetics
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| Publication Date: | 2024-09-13 |
| Publisher: | Federated Research Data Repository / dépôt fédéré de données de recherche |
| Funder: | Canadian Institutes of Health Research; Canadian Institutes of Health Research grants; PJT-168982 Canadian Institutes of Health Research; Canadian Institutes of Health Research grants; PJT-185999 BC Cancer Foundation; BC Cancer Rising Stars Award Canada Research Chairs; Canada Research Chairs program BC Children's Hospital Foundation; BC Children’s Hospital Research Institute intramural IGAP award Simons Foundation Autism Research Initiative; Simons Foundation Autism Research Initiative; SFARI. 887172 |
| URI: | https://doi.org/10.20383/103.0962 |
| Geographic Coverage: | Place Name Canada's Michael Smith Genome Sciences Centre City Vancouver Province / Province / Territory British Columbia Territory Country Canada |
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Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/
Citation
Akbari, V., Dada, S., Shen, Y., Dixon, K., Hejla, D., Galbraith, A., Choufani, S., Weksberg, R., Boerkoel, C., Stewart, L., Gibson, W., Jones, S. (2024). Long-Read Sequencing for Detection and Subtyping of Prader-Willi and Angelman Syndromes. Federated Research Data Repository. https://doi.org/10.20383/103.0962
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