HipSci___Whole_Exome_sequencing___Bardet_Biedl_Syndrome

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

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

4 Datasets 1 Publication

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

Publications	Citations
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	2