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HipSci HumanExome BeadChip analysis - Primary immune deficiency

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 Primary immune deficiency.

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
EGAD00010001358 Illumina 23
Publications Citations
Optimizing expression quantitative trait locus mapping workflows for single-cell studies.
Genome Biol 22: 2021 188
22