Study

POT1 splice site mutant analysis

Study ID Alternative Stable ID Type
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
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.
Illumina MiSeq 1

Who archives the data?

There are no publications available