Study
HipSci Whole Exome sequencing Bardet Biedl Syndrome
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001000969 | Other |
Study Description
The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Bardet-Biedl syndrome
Study Datasets 4 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001001422 |
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - April 2015
|
Illumina HiSeq 2000 | 3 |
| EGAD00001001950 |
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - January 2016
|
Illumina HiSeq 2000 | 3 |
| EGAD00001003161 |
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - October 2016
|
Illumina HiSeq 2000,Illumina HiSeq 2500 | 3 |
| EGAD00001003515 |
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - July 2017
|
Illumina HiSeq 2000,Illumina HiSeq 2500 | 3 |
Who archives the data?
