HipSci HumanExome BeadChip analysis-Rare BBS

ABSTRACT: 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.

PROVIDER: EGAS00001001272 | EGA |

REPOSITORIES: EGA