دورية أكاديمية
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
| العنوان: | Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy |
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| المؤلفون: | Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang |
| المصدر: | Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022) |
| بيانات النشر: | Wiley, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Abstract Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular dystrophy but lacked complete genetic diagnoses and one had an asymptomatic DMD duplication. Nanopore genomic long‐read sequencing identified previously undetected pathogenic variants in four individuals: an SV in DMD, an SV in LAMA2, and two single nucleotide variants in DMD that alter splicing. The DMD duplication in the asymptomatic individual was in tandem. Nanopore sequencing may help streamline genetic diagnostic approaches for muscular dystrophy. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2328-9503 |
| العلاقة: | https://doaj.org/toc/2328-9503Test |
| DOI: | 10.1002/acn3.51612 |
| الوصول الحر: | https://doaj.org/article/9c66bfaff84f41c59607be77930bfc87Test |
| رقم الانضمام: | edsdoj.9c66bfaff84f41c59607be77930bfc87 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 23289503 |
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| DOI: | 10.1002/acn3.51612 |