The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
DeNovoGear: de novo indel and point mutation discovery and phasing
Open accessAbstract
We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error modeling to reduce the false positive rate of mutation discovery in exome analysis and fragment information to identify the parental origin of germ-line mutations. We used DeNovoGear on human whole-genome sequencing data to produce a set of predicted de novo insertion and/or deletion (indel) mutations with a 95% validation rate.
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Cites
Tandem repeats finder: a program to analyze DNA sequences
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An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Rate of de novo mutations and the importance of father’s age to disease risk
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The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970
Self-citationAnalysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084
Rate, molecular spectrum, and consequences of human mutation
Lynch, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912629107 · Cited by 792
A genome-wide view of the spectrum of spontaneous mutations in yeast.
Lynch, M., Sung, W., Morris, K., Coffey, N., Landry, C. R., Dopman, E. B., Dickinson, W. J., Okamoto, K., Kulkarni, S., Hartl, D. L., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0803466105 · Cited by 708
Variation in genome-wide mutation rates within and between human families
the 1000 Genomes Project (2011) · Nature Genetics · doi:10.1038/ng.862 · Cited by 581
Heinrich, V., Stange, J., Dickhaus, T., Imkeller, P., Krüger, U., Bauer, S., Mundlos, S., Robinson, P. N., Hecht, J., & Krawitz, P. M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1073 · Cited by 43
Cited by
Prevalence and architecture of de novo mutations in developmental disorders
Study, D. D. D. (2017) · Nature · doi:10.1038/nature21062 · Cited by 1,480
Next-generation diagnostics and disease-gene discovery with the Exomiser
Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols · doi:10.1038/nprot.2015.124 · Cited by 445
Differences between germline and somatic mutation rates in humans and mice
Milholland, B., Dong, X., Zhang, L., Hao, X., Suh, Y., & Vijg, J. (2017) · Nature Communications · doi:10.1038/ncomms15183 · Cited by 429
Werling, D. M., Brand, H., An, J.-Y., Stone, M. R., Zhu, L., Glessner, J. T., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0107-y · Cited by 293
Constantino, J. N., & Charman, T. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00151-9 · Cited by 294
Metadata
- Authors
- Ramu, A., Noordam, M. J., Schwartz, R. S., Wuster, A., Hurles, M. E., Cartwright, R. A., & Conrad, D. F.
- Venue
- Nature Methods
- Published
- 2013-08-25
- Volume
- 10
- Issue
- 10
- Pages
- 985-987
- ISSN
- 1548-7091 (ISSN-L)
- 1548-7105
- OpenAlex
- W2059386911
- Cited by
- 171
- References
- 9
- FWCI
- 9.10
- Type
- journal article
- Language
- en
- Open access
- green
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- Ramu, A., Noordam, M. J., Schwartz, R. S., Wuster, A., Hurles, M. E., Cartwright, R. A., & Conrad, D. F. (2013). DeNovoGear: de novo indel and point mutation discovery and phasing. Nature Methods. https://doi.org/10.1038/nmeth.2611
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