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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

4 Datasets 2 Publications

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	HipSci - Healthy Normals - Exome Sequencing - May 2014	Illumina HiSeq 2000	15
EGAD00001001437	HipSci - Healthy Normals - Exome Sequencing - April 2015	Illumina HiSeq 2000	122
EGAD00001001932	HipSci - Healthy Normals - Exome Sequencing - January 2016	Illumina HiSeq 2000	123
EGAD00001003514	HipSci - Healthy Normals - Exome Sequencing - July 2017	Illumina HiSeq 2000 Illumina HiSeq 2500	123

Publications	Citations
Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells. Rouhani FJ, Zou X, Danecek P, Badja C, Amarante TD, Koh G, Wu Q, Memari Y, Durbin R, Martincorena I, Bassett AR, Gaffney D, Nik-Zainal S. Nat Genet 54: 2022 1406-1416	25
Hypothesis-free phenotype prediction within a genetics-first framework. Lu C, Zaucha J, Gam R, Fang H, Ben Smithers, Oates ME, Bernabe-Rubio M, Williams J, Zelenka N, Pandurangan AP, Tandon H, Shihab H, Kalaivani R, Sung M, Sardar AJ, Tzovoras BG, Danovi D, Gough J. Nat Commun 14: 2023 919	1