Study
POT1 splice site mutant analysis
Study ID | Alternative Stable ID | Type |
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EGAS00001000571 | Transcriptome Analysis |
Study Description
We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see how this mutation influences splicing. RNA has been obtained from lymphocytes collected from the patient.
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
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EGAD00001000786 |
We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see how this mutation influences splicing. RNA has been obtained from lymphocytes collected from the patient.
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Illumina MiSeq | 1 |
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