The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Exome sequencing: the sweet spot before whole genomes
Open accessAbstract
The development of massively parallel sequencing technologies, coupled with new massively parallel DNA enrichment technologies (genomic capture), has allowed the sequencing of targeted regions of the human genome in rapidly increasing numbers of samples. Genomic capture can target specific areas in the genome, including genes of interest and linkage regions, but this limits the study to what is already known. Exome capture allows an unbiased investigation of the complete protein-coding regions in the genome. Researchers can use exome capture to focus on a critical part of the human genome, allowing larger numbers of samples than are currently practical with whole-genome sequencing. In this review, we briefly describe some of the methodologies currently used for genomic and exome capture and highlight recent applications of this technology.
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Citations
Cites
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude
Yi, X., Liang, Y., Huerta-Sanchez, E., Jin, X., Cuo, Z. X. P., Pool, J. E., Xu, X., Jiang, H., Vinckenbosch, N., Korneliussen, T. S., et al. (2010) · Science · doi:10.1126/science.1190371 · Cited by 1,611 · cited 1×
“Researchers used whole exome capture to identify changes in allele frequency between high-altitude populations (Tibetans) and low altitude populations (Han Chinese and Danes) (38).”
MethodGnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., Fennell, T., Giannoukos, G., Fisher, S., Russ, C., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1523 · Cited by 1,433
Direct selection of human genomic loci by microarray hybridization
Albert, T. J., Molla, M. N., Muzny, D. M., Nazareth, L., Wheeler, D., Song, X., Richmond, T. A., Middle, C. M., Rodesch, M. J., Packard, C. J., et al. (2007) · Nature Methods · doi:10.1038/nmeth1111 · Cited by 681
Microdroplet-based PCR enrichment for large-scale targeted sequencing
Tewhey, R., Warner, J. B., Nakano, M., Libby, B., Medkova, M., David, P. H., Kotsopoulos, S. K., Samuels, M. L., Hutchison, J. B., Larson, J. W., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1583 · Cited by 454 · cited 4×
“Instead of using plates with hundreds of wells, aqueous microdroplets can segregate thousands of individual reactions in the same tube, allowing for a much more highly parallel use of PCR (22) (commercially available from Raindance).”
BackgroundInfluential
Cited by
Single-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
The genetics of asthma and allergic disease: a 21st century perspective
Ober, C., & Yao, T. (2011) · Immunological Reviews · doi:10.1111/j.1600-065x.2011.01029.x · Cited by 698
Diagnostic Clinical Genome and Exome Sequencing
Biesecker, L. G., & Green, R. C. (2014) · New England Journal of Medicine · doi:10.1056/nejmra1312543 · Cited by 607
The impact of next-generation sequencing on genomics
Zhang, J., Chiodini, R., Badr, A., & Zhang, G. (2011) · Journal of Genetics and Genomics · doi:10.1016/j.jgg.2011.02.003 · Cited by 577
“Targeted sequencing generally focuses on all protein-coding subsequences (the functional exome), which only requires ~5% as much sequencing compared to that required for the entire human genome (Pussegoda, 2010; Senapathy et al., 2010; Teer and Mullikin, 2010).”
BackgroundThe Genetic and Environmental Factors for Keratoconus
Gordon-Shaag, A., Millodot, M., Shneor, E., & Liu, Y. (2015) · BioMed Research International · doi:10.1155/2015/795738 · Cited by 428
Metadata
- Authors
- Teer, J. K., & Mullikin, J. C.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-08-12
- Volume
- 19
- Issue
- R2
- Pages
- R145-R151
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2105103362
- Cited by
- 303
- References
- 5
- FWCI
- 18.78
- Type
- journal article
- Language
- en
- Open access
- hybrid
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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