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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,...

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Detalles Bibliográficos
Autores principales: Hachiya, Tsuyoshi, Ishii, Manabu, Kawai, Yosuke, Khor, Seik-Soon, Kawashima, Minae, Toyo-Oka, Licht, Mitsuhashi, Nobutaka, Fukuda, Asami, Kodama, Yuichi, Fujisawa, Takatomo, Tokunaga, Katsushi, Takagi, Toshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768127/
https://www.ncbi.nlm.nih.gov/pubmed/36539398
http://dx.doi.org/10.1038/s41439-022-00225-6
Descripción
Sumario: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.