Study
HipSci HumanExome BeadChip analysis-Rare BBS
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001001272 | 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 performed Genotyping analysis using the Infinium HumanExome BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Bardet-Biedl syndrome.
Study Datasets 2 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 |
---|---|---|---|
EGAD00010000777 |
HipSci - Bardet-Biedl Syndrome - Genotyping Array - November 2014
|
N/A | |
EGAD00010001332 |
HipSci - Bardet-Biedl Syndrome - Genotyping Array - July 2017
|
Illumina | 1 |
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