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

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

Abstract 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 imputatio...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2022-12-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00225-6
Description
Summary:Abstract 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.
ISSN:2054-345X

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