The technology will answer burning questions on mutational burden in normal development and how this is impacted by germline genetic background, lifestyle, aging and disease. We are developing single-cell genome sequencing technologies to enable the discovery of the entire spectrum of DNA mutation –including the acquisition of ploidy changes, aneuploidies, copy number variants, structural variants, retrotranspositions, indels, and single nucleotide variants. Single-cell genome analyses overcome these issues. Standard methods sequence DNA that has been extracted from a population of cells, such that not only the genetic composition of individual cells is lost, but also de novo mutations in cell(s) are effectively concealed by the bulk signal. In addition, the contributions of these mosaic somatic variants to phenotype and disease aetiology remain largely unknown. Our knowledge on the nature and rate of genome mutation in a developing organism is rudimentary. Apart from wet-lab approaches, we also develop the computational means for the analysis of single cells. The Centre is strengthened by the Single Cell Genomics Core Facility that implements state-of-the-art single-cell technologies and provides high throughput single-cell isolation and sequence library preparation services. The aim of the Sanger Institute-EBI Single-Cell Genomics Centre is to develop and apply methods for capturing the complete genetic content of single cells in a high-throughput manner, allowing us to explore the nature and role of cellular heterogeneity in normal development and disease.
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