Genomics

Dataset Information

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HipSci Whole Exome sequencing Macular dystrophy


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 perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Macular dystrophy

PROVIDER: EGAS00001001982 | EGA |

REPOSITORIES: EGA

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