Using data from the UK Biobank, we reveal the roles of selection and mutation in shaping the genetic diversity of mosaic chromosomal alterations in healthy blood.
References
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Watson, C. J. et al. The evolutionary dynamics and fitness landscape of clonal hematopoiesis. Science 367, 1449–1454 (2020). This paper presented a framework for disentangling the effects of mutation, genetic drift and fitness effects in shaping the somatic genetic diversity of blood, and to quantify the fitness effect of variants at single nucleotide resolution.
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This is a summary of: Watson, C. J. & Blundel, J. R. et al. Mutation rates and fitness consequences of mosaic chromosomal alterations in blood. Nat. Genet. https://doi.org/10.1038/s41588-023-01490-z (2023).
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Quantifying fitness effects and mutation rates of mCAs in blood. Nat Genet 55, 1617–1618 (2023). https://doi.org/10.1038/s41588-023-01491-y
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DOI: https://doi.org/10.1038/s41588-023-01491-y
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