The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm
Open accessAbstract
SUMMARY Meiotic recombination and de novo mutation are the two main contributions towards gamete genome diversity, and many questions remain about how an individual human’s genome is edited by these two processes. Here, we describe a high-throughput method for single-cell whole-genome analysis which was used to measure the genomic diversity in one individual’s gamete genomes. A microfluidic system was used for highly parallel sample processing and to minimize non-specific amplification. High-density genotyping results from 91 single cells were used to create a personal recombination map, which was consistent with population-wide data at low resolution but revealed significant differences from pedigree data at higher resolution. We used the data to test for meiotic drive and found evidence for gene conversion. High throughput sequencing on 31 single cells was used to measure the frequency of large-scale genome instability, and deeper sequencing of eight single cells revealed de novo mutation rates with distinct characteristics.
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Cites
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Tumour evolution inferred by single-cell sequencing
Navin, N., Kendall, J., Troge, J., Andrews, P., Rodgers, L., McIndoo, J., Cook, K., Stepansky, A., Levy, D., Esposito, D., et al. (2011) · Nature · doi:10.1038/nature09807 · Cited by 2,598
The complete genome of an individual by massively parallel DNA sequencing
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838
The Diploid Genome Sequence of an Individual Human
Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778
A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome
Myers, S., Bottolo, L., Freeman, C., McVean, G., & Donnelly, P. (2005) · Science · doi:10.1126/science.1117196 · Cited by 1,134
PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice
Baudat, F., Buard, J., Grey, C., Fledel-Alon, A., Ober, C., Przeworski, M., Coop, G., & de Massy, B. (2010) · Science · doi:10.1126/science.1183439 · Cited by 1,026
The origins, patterns and implications of human spontaneous mutation
Crow, J. F. (2000) · Nature Reviews Genetics · doi:10.1038/35049558 · Cited by 928
Wong, C. C., Loewke, K. E., Bossert, N. L., Behr, B., De Jonge, C. J., Baer, T. M., & Pera, R. A. R. (2010) · Nature Biotechnology · doi:10.1038/nbt.1686 · Cited by 783
Self-citationConception to ongoing pregnancy: the 'black box' of early pregnancy loss
Macklon, N. S. (2002) · Human Reproduction Update · doi:10.1093/humupd/8.4.333 · Cited by 783
Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination
Myers, S., Bowden, R., Tumian, A., Bontrop, R. E., Freeman, C., MacFie, T. S., McVean, G., & Donnelly, P. (2010) · Science · doi:10.1126/science.1182363 · Cited by 683
Cited by
Mapping the Mouse Cell Atlas by Microwell-Seq
Han, X., Wang, R., Zhou, Y., Fei, L., Sun, H., Lai, S., Saadatpour, A., Zhou, Z., Chen, H., Ye, F., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.001 · Cited by 1,597
The Technology and Biology of Single-Cell RNA Sequencing
Kolodziejczyk, A. A., Kim, J. K., Svensson, V., Marioni, J. C., & Teichmann, S. A. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.04.005 · Cited by 1,487
Single-cell genome sequencing: current state of the science
Gawad, C., Koh, W., & Quake, S. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.16 · Cited by 1,334
Self-citationSingle-cell sequencing-based technologies will revolutionize whole-organism science
Shapiro, E., Biezuner, T., & Linnarsson, S. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3542 · Cited by 1,177
Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell
Zong, C., Lu, S., Chapman, A. R., & Xie, X. S. (2012) · Science · doi:10.1126/science.1229164 · Cited by 1,154
Metadata
- Authors
- Wang, J., Fan, H. C., Behr, B., & Quake, S. R.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2012-07
- Volume
- 150
- Issue
- 2
- Pages
- 402-412
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W1997666780
- Cited by
- 511
- References
- 41
- FWCI
- 57.55
- Type
- journal article
- Language
- en
- Open access
- bronze
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