Project description:The Human Induced Pluripotent Stem Cells Initiative (HipSci) project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national induced pluripotent stem cell (iPS cell) resource and use it to carry out cellular genetic studies. In this sub-study we performed Expression analysis using the using RNAseq of fibroblasts, peripheral blood mononuclear cells (PBMCs) and induced pluripotent stem cells (iPS cells) generated from the skin biopsies or blood of healthy volunteers. This experiment includes the data and expands the metadata from two obsolete ArrayExpress accessions (E-ERAD-216 and E-ERAD-327) for use in the Expression Atlas. For samples derived from E-ERAD-216 the raw data is stored in the European Genome-Phenome Archive (EGA) and is subject to access control. Data from E-ERAD-327 is stored in the European Nucleotide Archive (ENA) and is publicly available.
Project description:We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome sequencing method to identify SVs 3 kb or larger that combines the rescue and capture of paired-ends of 3 kb fragments, massive 454 Sequencing, and a computational approach to map DNA reads onto a reference genome. PEM was used to map SVs in an African and putatively European individual and identified shared and divergent SVs relative to the reference genome. Overall, we fine-mapped more than 1000 SVs and documented that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function. The breakpoint junction sequences of more than 200 SVs were deduced with a novel pooling strategy and computational analysis. Array-CGH was used for validation. Keywords: array CGH
Project description:The development of precision medicine strategies requires prior knowledge of the genetic background of the target population. However, despite the availability of data from admixed Americans within large reference population databases, we cannot use these data as a surrogate for that of the Brazilian population. This lack of transferability is mainly due to differences between ancestry proportions of Brazilian and other admixed American populations. To address the issue, a coalition of research centres created the Brazilian Initiative on Precision Medicine (BIPMed), an initiative of five Research Innovation and Dissemination Centers (RIDCs) supported by FAPESP.