Study

Exome sequencing of a Novel Primary T Cell Immunideficiency Kindred

Study ID Alternative Stable ID Type
EGAS00001000099 Other

Study Description

Primary T cell immuodeficiency disorders have a heterogeneous genetic basis. This study will focus on one case characterised by severe T cell lymphopenia in the index case. We aim to sequence the complete exomes of this individual, her three unaffected siblings and parents in an effort to identify the causative genetic mutation responsible for this disorder. We will perform exome capture using Agilent SureSelect system, followed by sequencing on the HiSeq platform. Our study has the potential to uncover genes important for T cell development and novel therapeutic strategies to treat T cell immunodeficiencies.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005263
Primary T cell immunodeficiency disorders have a heterogeneous genetic basis. This study will focus on one case characterised by severe T cell lymphopenia in the index case. We aim to sequence the complete exomes of this individual, her three unaffected siblings and parents in an effort to identify the causative genetic mutation responsible for this disorder. We will perform exome capture using Agilent SureSelect system, followed by sequencing on the HiSeq platform. Our study has the ... (Show More)
Illumina HiSeq 2000 3

Who archives the data?

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