 | HipSci brings together diverse constitutents 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. Between 2013 and 2016 the project aims to generate iPS cells from over 500 healthy individuals and 500 individuals with genetic disease. These cells will then be used to discover how genomic variation impacts on cellular phenotype and identify new disease mechanisms. Strong links with NHS investigators will ensure that studies on the disease-associated cell lines will be linked to extensive clinical information. Further key features of the project are an open access model of data sharing; engagement of the wider clinical genetics community in selecting patient samples; and provision of dedicated laboratory space for collaborative cell phenotyping and differentiation. |
 | BLUEPRINT is a large-scale, EU-funded research project that brings together 41 leading European universities, research institutes and industry entrepreneurs to study how genes are activated or repressed in blood cells from healthy individuals and their malignant leukaemic counterparts. BLUEPRINT aims to generate at least 100 reference epigenomes using state-of-the-art technologies from highly purified cells for a comprehensive set of epigenetic marks in accordance with quality standards set by IHEC. The Data Coordination Centre will be responsible for data storage and distribution, as well as for the quality assessment, following parallel developments in other large-scale genome-based consortia, particularly ICGC, ENCODE and 1000 Genomes projects. BLUEPRINT's policies are in full agreement with those of IHEC. |
 | The 1000 Genomes Project is the first project to sequence the genomes of a large number of people, to provide a comprehensive resource on human genetic variation. As with other major human genome reference projects, data from the 1000 Genomes Project will be made available quickly to the worldwide scientific community through freely accessible public databases. (See Data use statement.) |
Collaborations
Ensembl
Human Genome Variation
- Richard Durbin, Manolis Derminzakis, Matthew Hurles (Wellcome Trust Sanger Institute)