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: EGA European Genome-Phenome Archive
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Optimizing expression quantitative trait locus mapping workflows for single-cell studies.
Genome Biol 22: 2021 188
Somatic mutations alter the differentiation outcomes of iPSC-derived neurons.
Cell Genom 3: 2023 100280