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.
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References
Loh, P.-R. et al. Monogenic and polygenic inheritance become instruments for clonal selection. Nature 584, 136–141 (2020). This paper used single-nucleotide polymorphism (SNP)-array intensity data and phase-based computational techniques tocall mCAs, at cell fractions as low as 1%, in the blood-derived DNA of ~500,000 participants from the UK Biobank andidentified relationships to inherited genetic variation.
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.
Poon, Y. P. et al. Synonymous mutations reveal genome-wide levels of positive selection in healthy tissues. Nat. Genet. 53, 1597–1605 (2021). This paper used synonymous ‘passenger’ mutations to quantify the levels of missing positive selection in healthy blood, finding that only 30% of passenger mutations can be explained by single-nucleotide variants in driver genes.
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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
