Study
HipSci HumanExome BeadChip analysis - Kabuki syndrome
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001002007 | 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 Kabuki syndrome.
Study Datasets 1 dataset.
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 |
|---|---|---|---|
| EGAD00010001348 |
HipSci - Kabuki Syndrome - Genotyping Array - July 2017
|
Illumina | 1 |
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