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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

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 Illumina HiSeq 2000 3
EGAD00001001950 Illumina HiSeq 2000 3
EGAD00001003161 Illumina HiSeq 2000 Illumina HiSeq 2500 3
EGAD00001003515 Illumina HiSeq 2000 Illumina HiSeq 2500 3
Publications Citations
Hypothesis-free phenotype prediction within a genetics-first framework.
Nat Commun 14: 2023 919