The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Illumina human exome genotyping array clustering and quality control
Open accessAbstract
With the rise of high-throughput sequencing technology, traditional genotyping arrays are gradually being replaced by sequencing technology. Against this trend, Illumina has introduced an exome genotyping array that provides an alternative approach to sequencing, especially suited to large-scale genome-wide association studies (GWASs). The exome genotyping array targets the exome plus rare single-nucleotide polymorphisms (SNPs), a feature that makes it substantially more challenging to process than previous genotyping arrays that targeted common SNPs. Researchers have struggled to generate a reliable protocol for processing exome genotyping array data. The Vanderbilt Epidemiology Center, in cooperation with Vanderbilt Technologies for Advanced Genomics Analysis and Research Design (VANGARD), has developed a thorough exome chip–processing protocol. The protocol was developed during the processing of several large exome genotyping array-based studies, which included over 60,000 participants combined. The protocol described herein contains detailed clustering techniques and robust quality control procedures, and it can benefit future exome genotyping array–based GWASs.
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Cites
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Principal components analysis corrects for stratification in genome-wide association studies
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†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Self-citationzCall: a rare variant caller for array-based genotyping
Goldstein, J. I., Crenshaw, A., Carey, J., Grant, G. B., Maguire, J., Fromer, M., O’Dushlaine, C., Moran, J. L., Chambert, K., Stevens, C., et al. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts479 · Cited by 196
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Weisheit, I., Kroeger, J. A., Malik, R., Klimmt, J., Crusius, D., Dannert, A., Dichgans, M., & Paquet, D. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107689 · Cited by 125
Karnes, J. H., Bastarache, L., Shaffer, C. M., Gaudieri, S., Xu, Y., Glazer, A. M., Mosley, J. D., Zhao, S., Raychaudhuri, S., Mallal, S., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aai8708 · Cited by 126
Self-citationThe HUNT Study: a population-based cohort for genetic research
Brumpton, B. M., Graham, S., Surakka, I., Skogholt, A. H., Løset, M., Fritsche, L. G., Wolford, B., Zhou, W., Nielsen, J. B., Holmen, O. L., et al. (2021) · doi:10.1101/2021.12.23.21268305 · Cited by 110
Cheng, Y., Schlosser, P., Hertel, J., Sekula, P., Oefner, P. J., Spiekerkoetter, U., Mielke, J., Freitag, D. F., Schmidts, M., GCKD Investigators, et al. (2021) · Nature Communications · doi:10.1038/s41467-020-20877-8 · Cited by 37
Guymer, R. H., Silva, R., Ghadessi, M., Leal, S., Gashaw, I., Damask, A., Paulding, C., & Rittenhouse, K. D. (2024) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.65.8.17 · Cited by 6
Metadata
- Authors
- Guo, Y., He, J., Zhao, S., Wu, H., Zhong, X., Sheng, Q., Samuels, D. C., Shyr, Y., & Long, J.
- Venue
- Nature Protocols
- Published
- 2014-10-16
- Volume
- 9
- Issue
- 11
- Pages
- 2643-2662
- ISSN
- 1750-2799 (ISSN-L)
- 1754-2189
- OpenAlex
- W2053250360
- Cited by
- 184
- References
- 5
- FWCI
- 7.33
- Type
- journal article
- Language
- en
- Open access
- green
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