NBDC-DDBJ 估算服务器为使用日本受控访问参考面板数据集提供了便利。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2022-12-20 DOI:10.1038/s41439-022-00225-6
Tsuyoshi Hachiya, Manabu Ishii, Yosuke Kawai, Seik-Soon Khor, Minae Kawashima, Licht Toyo-Oka, Nobutaka Mitsuhashi, Asami Fukuda, Yuichi Kodama, Takatomo Fujisawa, Katsushi Tokunaga, Toshihisa Takagi
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摘要

准确的基因型推算需要大规模的参考面板数据集。在对日本人群进行基因型推算时,研究人员可以在合作研究或受控访问条件下使用公共数据库中的此类数据集。我们开发了 NBDC-DDBJ 估算服务器,它为用户提供了在服务器上执行基因型估算的网络用户界面。我们的基准分析表明,与使用1000基因组计划等公开参考面板相比,利用受控访问数据集增加可用于分析的单倍型数量可提高基因型估算的准确性。NBDC-DDBJ估算服务器有助于使用受控访问数据集进行准确的基因型估算。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan.

Accurate genotype imputation requires large-scale reference panel datasets. When conducting genotype imputation on the Japanese population, researchers can use such datasets under collaborative studies or controlled access conditions in public databases. We developed the NBDC-DDBJ imputation server, which securely provides users with a web user interface to execute genotype imputation on the server. Our benchmarking analysis showed that the accuracy of genotype imputation was improved by leveraging controlled access datasets to increase the number of haplotypes available for analysis compared to using publicly available reference panels such as the 1000 Genomes Project. The NBDC-DDBJ imputation server facilitates the use of controlled access datasets for accurate genotype imputation.

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来源期刊
Human Genome Variation
Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
13 weeks
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