POT1 splice site mutant analysis

Dataset ID Technology Samples
EGAD00001000786 Illumina MiSeq 1

Dataset 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.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

DAC for study POT1 splice
Contact person: David Adams
Email: da1 [at] sanger [dot] ac [dot] uk
More details: EGAC00001000184


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