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| Status |
Public on Sep 04, 2023 |
| Title |
Transcriptome analysis of TSC1 and TSC2 using Nanopore long-read sequencer |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Tuberous sclerosis complex (TSC) is a relatively common autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss-of-function mutation of either TSC1 or TSC2. Target-capture full-length double-stranded cDNA sequencing using long-read sequencer Nanopore (Nanopore Long-read Target Sequencing) revealed that the various kinds of the TSC1 and TSC2 full-length transcripts and the novel intron retention transcripts of TSC2 in TSC patient. Our results indicate that the Nanopore Long-read Target Sequencing is useful for the detection of mutations and confers information on the full-length alternative splicing transcripts for the genetic diagnosis.
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| Overall design |
Total RNA extracted from the peripheral blood mononuclear cells (PBMCs) of two controls and TSC patient were used for the full-length double-stranded cDNA synthesis with SMARTer method. Then the full-length double-stranded cDNA generated by SMARTer method was captured using TSC1 and TSC2 probe and then the captured double-stranded cDNA was ligated adapter for Nanopore long-read sequencing using the ligation sequencing kit. The libraries were sequenced on Nanopore MinION long-read sequencer.
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| Contributor(s) |
Ura H, Niida Y |
| Citation(s) |
37829285 |
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| Submission date |
Aug 22, 2023 |
| Last update date |
Oct 23, 2023 |
| Contact name |
Hiroki Ura |
| E-mail(s) |
[email protected]
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| Organization name |
Kanazawa Medical University Hospital
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| Lab |
Center for Clinical Genomics
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| Street address |
1-1 Daigaku
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| City |
Uchinada |
| State/province |
Ishikawa |
| ZIP/Postal code |
920-0293 |
| Country |
Japan |
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| Platforms (1) |
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| Samples (3) |
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| Relations |
| BioProject |
PRJNA1008094 |
