The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals
Open accessAbstract
The Tohoku Medical Megabank Organization constructed the reference panel (referred to as the 1KJPN panel), which contains >20 million single nucleotide polymorphisms (SNPs), from whole-genome sequence data from 1070 Japanese individuals. The 1KJPN panel contains the largest number of haplotypes of Japanese ancestry to date. Here, from the 1KJPN panel, we designed a novel custom-made SNP array, named the Japonica array, which is suitable for whole-genome imputation of Japanese individuals. The array contains 659,253 SNPs, including tag SNPs for imputation, SNPs of Y chromosome and mitochondria, and SNPs related to previously reported genome-wide association studies and pharmacogenomics. The Japonica array provides better imputation performance for Japanese individuals than the existing commercially available SNP arrays with both the 1KJPN panel and the International 1000 genomes project panel. For common SNPs (minor allele frequency (MAF)>5%), the genomic coverage of the Japonica array (r(2)>0.8) was 96.9%, that is, almost all common SNPs were covered by this array. Nonetheless, the coverage of low-frequency SNPs (0.5%
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Cites
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
Howie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928
Integrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1229 · Cited by 2,707
A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J., et al. (2012) · Nature · doi:10.1038/nature11283 · Cited by 1,738
Cited by
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Nagasaki, M., Yasuda, J., Katsuoka, F., Nariai, N., Kojima, K., Kawai, Y., Yamaguchi-Kabata, Y., Yokozawa, J., Danjoh, I., Saito, S., et al. (2015) · Nature Communications · doi:10.1038/ncomms9018 · Cited by 400
Self-citationThe Tohoku Medical Megabank Project: Design and Mission
Kuriyama, S., Yaegashi, N., Nagami, F., Arai, T., Kawaguchi, Y., Osumi, N., Sakaida, M., Suzuki, Y., Nakayama, K., Hashizume, H., et al. (2016) · Journal of Epidemiology · doi:10.2188/jea.je20150268 · Cited by 359
Self-citationShigemizu, D., Mitsumori, R., Akiyama, S., Miyashita, A., Morizono, T., Higaki, S., Asanomi, Y., Hara, N., Tamiya, G., Kinoshita, K., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01272-3 · Cited by 80
Practical guide for managing large-scale human genome data in research
Tanjo, T., Kawai, Y., Tokunaga, K., Ogasawara, O., & Nagasaki, M. (2021) · Journal of Human Genetics · doi:10.1038/s10038-020-00862-1 · Cited by 62
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Metadata
- Authors
- Kawai, Y., Mimori, T., Kojima, K., Nariai, N., Danjoh, I., Saito, R., Yasuda, J., Yamamoto, M., & Nagasaki, M.
- Venue
- Journal of Human Genetics
- Published
- 2015-06-25
- Volume
- 60
- Issue
- 10
- Pages
- 581-587
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W1487785114
- Cited by
- 163
- References
- 5
- FWCI
- 5.14
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Kawai, Y., Mimori, T., Kojima, K., Nariai, N., Danjoh, I., Saito, R., Yasuda, J., Yamamoto, M., & Nagasaki, M. (2015). Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. Journal of Human Genetics. https://doi.org/10.1038/jhg.2015.68
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