Study

HipSci Whole Exome sequencing Bardet Biedl Syndrome

Study ID Alternative Stable ID Type
EGAS00001000969 Other

Study Description

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 Bardet-Biedl syndrome

Study Datasets 4 datasets.

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
EGAD00001001422
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - April 2015
Illumina HiSeq 2000 3
EGAD00001001950
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - January 2016
Illumina HiSeq 2000 3
EGAD00001003161
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - October 2016
Illumina HiSeq 2000,Illumina HiSeq 2500 3
EGAD00001003515
HipSci - Bardet-Biedl Syndrome - Exome Sequencing - July 2017
Illumina HiSeq 2000,Illumina HiSeq 2500 3

Who archives the data?

There are no publications available