Editing Mutation (section)

== Application in human evolution and disease ==
In the human genome, the frequency and characteristics of de novo mutations have been studied as important contextual factors to our evolution. Compared to the human reference genome, a typical human genome varies at approximately 4.1 to 5.0 million loci, and the majority of this genetic diversity is shared by nearly 0.5% of the population.<ref>{{cite journal |last1=1000 Genomes Project Consortium |display-authors=etal |title=A global reference for human genetic variation |date=2015 |volume=526 |issue=7571 |pages=68–74 |journal=Nature |doi=10.1038/nature15393 |pmid=26432245 |pmc=4750478 |bibcode=2015Natur.526...68T }}</ref> The typical human genome also contains 40,000 to 200,000 rare variants observed in less than 0.5% of the population that can only have occurred from at least one de novo germline mutation in the history of human evolution.<ref>{{cite journal |last1=Lupski |first1=James R. |last2=Belmont |first2=John W. |last3=Boerwinkle |first3=Eric |last4=Gibbs |first4=Richard A. |title=Clan Genomics and the Complex Architecture of Human Disease |date=2011 |volume=147 |issue=1 |pages=32–43 |journal=Cell |doi=10.1016/j.cell.2011.09.008 |pmid=21962505 |pmc=3656718 }}</ref> De novo mutations have also been researched as playing a crucial role in the persistence of genetic disease in humans. With recents advancements in [[next-generation sequencing]] (NGS), all types of de novo mutations within the genome can be directly studied, the detection of which provides a magnitude of insight toward the causes of both rare and common genetic disorders. Currently, the best estimate of the average human germline SNV mutation rate is 1.18 x 10^-8, with an approximate ~78 novel mutations per generation. The ability to conduct whole genome sequencing of parents and offspring allows for the comparison of mutation rates between generations, narrowing down the origin possibilities of certain genetic disorders.<ref>{{cite journal |last1=Veltman |first1=Joris A. |last2=Brunner |first2=Han G. |title=De novo mutations in human genetic Disease |date=2012 |url=https://www.nature.com/articles/nrg3241#citeas |journal=Nature Reviews Genetics |volume=13 |issue=8 |pages=565–575 |doi=10.1038/nrg3241 |pmid=22805709 |s2cid=21702926 |access-date=9 December 2023}}</ref>