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HipSci-Whole Exome sequencing-healthy volunteers

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 sup-study we perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies from healthy volunteers.

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
EGAD00001000893 Illumina HiSeq 2000 15
EGAD00001001437 Illumina HiSeq 2000 122
EGAD00001001932 Illumina HiSeq 2000 123
EGAD00001003514 Illumina HiSeq 2000 Illumina HiSeq 2500 123
Publications Citations
Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.
Nat Genet 54: 2022 1406-1416
Hypothesis-free phenotype prediction within a genetics-first framework.
Nat Commun 14: 2023 919