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HipSci HumanExome BeadChip analysis - Macular Dystrophy

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 Macular Dystrophy.

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
EGAD00010001362 Illumina 1
Publications Citations
Optimizing expression quantitative trait locus mapping workflows for single-cell studies.
Genome Biol 22: 2021 188
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