كتاب
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing
| العنوان: | Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing |
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| المؤلفون: | Legati A., Ghezzi D., Viscomi C. |
| المساهمون: | T.J. Nicholl, J.P. Uhler, M. Falkenberg, A. Legati, D. Ghezzi, C. Viscomi |
| بيانات النشر: | Humana |
| سنة النشر: | 2023 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | Heteroplasmy, Mitochondrial disease, Mitochondrial DNA, Mitochondrial haplogroup, Next generation sequencing, Single amplicon, Settore MED/03 - Genetica Medica, Settore BIO/18 - Genetica, Settore BIO/13 - Biologia Applicata |
| الوصف: | Over the last 10years, next generation sequencing (NGS) became the gold standard for both diagnosis and discovery of new disease genes responsible for heterogeneous disorders, such as mitochondrial encephalomyopathies. The application of this technology to mtDNA mutations poses extra challenges compared to other genetic conditions because of the peculiarities of mitochondrial genetics and the requirement for proper NGS data management and analysis. Here, we describe a detailed, clinically relevant protocol to sequence the whole mtDNA and quantify heteroplasmy levels of mtDNA variants, starting from total DNA through the generation of a single PCR amplicon. |
| نوع الوثيقة: | book part |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/isbn/978-1-0716-2921-5; info:eu-repo/semantics/altIdentifier/isbn/978-1-0716-2922-2; info:eu-repo/semantics/altIdentifier/pmid/36807805; ispartofbook:Mitochondrial DNA; volume:2615; firstpage:381; lastpage:395; numberofpages:15; serie:METHODS IN MOLECULAR BIOLOGY; alleditors:T.J. Nicholls, J.P. Uhler, M. Falkenberg; https://hdl.handle.net/2434/993971Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148679005 |
| DOI: | 10.1007/978-1-0716-2922-2_26 |
| الإتاحة: | https://doi.org/10.1007/978-1-0716-2922-2_26Test https://hdl.handle.net/2434/993971Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.1A8FA4F5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/978-1-0716-2922-2_26 |
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