Exome sequencing of a Novel Primary T Cell Immunodeficiency Kindred (2019-08-19)
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 potential to uncover genes important for T cell development and novel therapeutic strategies to treat T cell immunodeficiencies. . This dataset contains all the data available for this study on 2019-08-19.
- DAC: EGAC00001000205
- Technology: Illumina HiSeq 2000
Wellcome Trust Sanger Institute Data Sharing Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001000099 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00000082455 | bam | 7.5 GB | ||
| EGAF00000082456 | bam | 7.3 GB | ||
| EGAF00000082457 | bam | 7.7 GB | ||
| EGAF00006164450 | bam | 3.1 GB | ||
| EGAF00006164451 | bam | 2.9 GB | ||
| EGAF00006164452 | bam | 3.4 GB | ||
| EGAF00006164453 | bam | 8.8 GB | ||
| EGAF00006164454 | bam | 8.3 GB | ||
| EGAF00006164455 | bam | 9.1 GB | ||
| 9 Files (58.1 GB) | ||||