Abstract
Single-cell analysis: toward the clinic.
Highlights
Human life starts with a single cell, the zygote, which undergoes multiple mitotic cell divisions to form a complete body
Despite Virchow’s discovery more than 150 years ago that the single cell represents the basic unit of disease [10], research and diagnostics are usually performed on thousands of cells without considering the different cell lineages in a body
In cases of suspected mosaicism, the usual diagnostics include additional analyses of non-hematogenous cells, which are obtained by skin biopsies and/or buccal swabs, or the analyses of paired samples of visibly affected and normal tissue
Summary
Human life starts with a single cell, the zygote, which undergoes multiple mitotic cell divisions to form a complete body. During normal mitotic cell division, the genome is not replicated with absolute precision; this results in the incorporation of somatic mutations [1]. Estimates of the mutation burden in somatic cells are high and, as a consequence, it has been speculated that each cell in a human body may have a unique genomic signature; in other words, that each cell has its own ‘personal genome’ [4,5].
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