The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.
A direct characterization of human mutation based on microsatellites
Open accessAbstract
Mutations are the raw material of evolution but have been difficult to study directly. We report the largest study of new mutations to date, comprising 2,058 germline changes discovered by analyzing 85,289 Icelanders at 2,477 microsatellites. The paternal-to-maternal mutation rate ratio is 3.3, and the rate in fathers doubles from age 20 to 58, whereas there is no association with age in mothers. Longer microsatellite alleles are more mutagenic and tend to decrease in length, whereas the opposite is seen for shorter alleles. We use these empirical observations to build a model that we apply to individuals for whom we have both genome sequence and microsatellite data, allowing us to estimate key parameters of evolution without calibration to the fossil record. We infer that the sequence mutation rate is 1.4–2.3 × 10−8 mutations per base pair per generation (90% credible interval) and that human-chimpanzee speciation occurred 3.7–6.6 million years ago.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
Self-citationFast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Self-citationA map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
A draft sequence of the Neandertal genome
Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318
Self-citationA measure of population subdivision based on microsatellite allele frequencies.
Slatkin, M. (1995) · Genetics · doi:10.1093/genetics/139.1.457 · Cited by 3,664
A leisurely look at the bootstrap, the jackknife, and cross-validation
Efron, B., & Gong, G. (1983) · The American Statistician · doi:10.1080/00031305.1983.10483087 · Cited by 3,229
Microsatellites: simple sequences with complex evolution
Ellegren, H. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1348 · Cited by 2,441
Rate of de novo mutations and the importance of father’s age to disease risk
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134
Self-citationA high-resolution recombination map of the human genome
Kong, A., Gudbjartsson, D. F., Sainz, J., Jonsdottir, G. M., Gudjonsson, S. A., Richardsson, B., Sigurdardottir, S., Barnard, J., Hallbeck, B., Masson, G., et al. (2002) · Nature Genetics · doi:10.1038/ng917 · Cited by 1,736
Self-citationMutation of human short tandem repeats
Weber, J. L., & Wong, C. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.8.1123 · Cited by 1,555
Cited by
Inferring human population size and separation history from multiple genome sequences
Schiffels, S., & Durbin, R. (2014) · Nature Genetics · doi:10.1038/ng.3015 · Cited by 1,073
Puechmaille, S. J. (2016) · Molecular Ecology Resources · doi:10.1111/1755-0998.12512 · Cited by 1,010
A Revised Timescale for Human Evolution Based on Ancient Mitochondrial Genomes
Fu, Q., Mittnik, A., Johnson, P. L. F., Bos, K., Lari, M., Bollongino, R., Sun, C., Giemsch, L., Schmitz, R., Burger, J., et al. (2013) · Current Biology · doi:10.1016/j.cub.2013.02.044 · Cited by 709
Self-citationGenome sequencing highlights the dynamic early history of dogs
Freedman, A. H., Gronau, I., Schweizer, R. M., Ortega-Del Vecchyo, D., Han, E., Silva, P. M., Galaverni, M., Fan, Z., Marx, P., Lorente-Galdos, B., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004016 · Cited by 624
Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.11.019 · Cited by 544
Metadata
- Authors
- Sun, J. X., Helgason, A., Masson, G., Ebenesersdóttir, S. S., Li, H., Mallick, S., Gnerre, S., Patterson, N., Kong, A., Reich, D., & Stefansson, K.
- Venue
- Nature Genetics
- Published
- 2012-08-23
- Volume
- 44
- Issue
- 10
- Pages
- 1161-1165
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2102406302
- Cited by
- 340
- References
- 46
- FWCI
- 19.84
- Type
- journal article
- Language
- en
- Open access
- green
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: A direct characterization of human mutation based on microsatellites. https://app.cochat.ai/papers/10.1038/ng.2398
- The paper
- Sun, J. X., Helgason, A., Masson, G., Ebenesersdóttir, S. S., Li, H., Mallick, S., Gnerre, S., Patterson, N., Kong, A., Reich, D., & Stefansson, K. (2012). A direct characterization of human mutation based on microsatellites. Nature Genetics. https://doi.org/10.1038/ng.2398
Data sources
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).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
