HipSci Whole Exome sequencing Usher syndrome and congenital eye defects
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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 Usher syndrome and congenital eye defects.
PROVIDER: EGAS00001001985 | EGA |
REPOSITORIES: EGA
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