HipSci HumanExome BeadChip analysis-Rare_BBS

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.

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

2 Datasets 2 Publications

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		-
EGAD00010001332	HipSci - Bardet-Biedl 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
Somatic mutations alter the differentiation outcomes of iPSC-derived neurons. Puigdevall P, Jerber J, Danecek P, Castellano S, Kilpinen H. Cell Genom 3: 2023 100280	3