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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