HipSci HumanExome BeadChip analysis - Usher syndrome and congenital eye defects

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 Usher syndrome and congenital eye defects.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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
EGAD00010001350	HipSci - Usher Syndrome - Genotyping Array - July 2017	Illumina	1

Publications	Citations
Optimizing expression quantitative trait locus mapping workflows for single-cell studies. Cuomo ASE, Alvari G, Azodi CB, single-cell eQTLGen consortium, McCarthy DJ, Bonder MJ. Genome Biol 22: 2021 188	32