Respuesta :
Three forms of genomic variation are produced by mutations in the human genome: single nucleotide variants, brief insertions or deletions, and major structural variants (SVs).
Some mutations come from DNA replication or abnormal repair of breaks in sequence-specific situations, while others are the consequence of regular processes like meiotic recombination or B cell development. No matter the mechanism, selection is a factor in mutations, and some hotspots can result in disease. Here, we talk about the processes that cause mutations to accumulate in both somatic and normal genomes, the genomic areas that are susceptible to mutations, and the mechanisms that contribute to mutation susceptibility. Additional mutation hotspots, mechanistic information about how they develop, and the significance of mutation hotspots to evolution and illness are likely to be found with more thorough human genome sequencing.
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