The DOI matches its Crossref record; 120 of the 120 references it cites were found in a registry or an index.
Properties and rates of germline mutations in humans
Open accessAbstract
All genetic variation arises via new mutations, and therefore determining the rate and biases for different classes of mutation is essential for understanding the genetics of human disease and evolution. Decades of mutation rate analyses have focused on a relatively small number of loci because of technical limitations. However, advances in sequencing technology have allowed for empirical assessments of genome-wide rates of mutation. Recent studies have shown that 76% of new mutations originate in the paternal lineage and provide unequivocal evidence for an increase in mutation with paternal age. Although most analyses have been focused on single nucleotide variants (SNVs), studies have begun to provide insight into the mutation rate for other classes of variation, including copy number variants (CNVs), microsatellites, and mobile element insertions. Here, we review the genome-wide analyses for the mutation rate of several types of variants and suggest areas for future research.
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Cites
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Cited by
Determinants of Mutation Rate Variation in the Human Germline
Ségurel, L., Wyman, M. J., & Przeworski, M. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-031714-125740 · Cited by 289
Carmi, S., Hui, K. Y., Kochav, E., Liu, X., Xue, J., Grady, F., Guha, S., Upadhyay, K., Ben-Avraham, D., Mukherjee, S., et al. (2014) · Nature Communications · doi:10.1038/ncomms5835 · Cited by 188
Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging
Zhang, L., & Vijg, J. (2018) · Annual Review of Genetics · doi:10.1146/annurev-genet-120417-031501 · Cited by 108
Rovelet-Lecrux, A., Charbonnier, C., Wallon, D., Nicolas, G., Seaman, M. N. J., Pottier, C., Breusegem, S. Y., Mathur, P. P., Jenardhanan, P., Le Guennec, K., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.100 · Cited by 106
Quantifying and reducing spurious alignments for the analysis of ultra-short ancient DNA sequences
de Filippo, C., Meyer, M., & Prüfer, K. (2018) · BMC Biology · doi:10.1186/s12915-018-0581-9 · Cited by 53
Metadata
- Authors
- Campbell, C. D., & Eichler, E. E.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2013-10
- Volume
- 29
- Issue
- 10
- Pages
- 575-584
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W1974518541
- Cited by
- 275
- References
- 120
- FWCI
- 3.49
- Type
- journal article
- Language
- en
- Open access
- bronze
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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