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ready Human Genetic Variation Database

Abbreviation:HGVD

General Information
The Human Genetic Variation Database (HGVD) aims to provide a central resource to archive and display Japanese genetic variation and association between the variation and transcription level of genes. The database currently contains genetic variations determined by exome sequencing of 1,208 individuals and genotyping data of common variations obtained from a cohort of 3,248 individuals. The HGVD browser can be used to view allele and genotype frequencies, number of samples, coverages, and expression QTL (eQTL) significances.




Awaiting DOI assignment.

Publication for citation  Human genetic variation database, a reference database of genetic variations in the Japanese population. Higasa K,Miyake N,Yoshimura J,Okamura K,Niihori T,Saitsu H,Doi K,Shimizu M,Nakabayashi K,Aoki Y,Tsurusaki Y,Morishita S,Kawaguchi T,Migita O,Nakayama K,Nakashima M,Mitsui J,Narahara M,Hayashi K,Funayama R,Yamaguchi D,Ishiura H,Ko WY,Hata K,Nagashima T,Yamada R,Matsubara Y,Umezawa A,Tsuji S,Matsumoto N,Matsuda F; J Hum Genet ; 2016; 10.1038/jhg.2016.12;


Record added: Dec. 14, 2018, 1:50 p.m.
Record updated: Dec. 14, 2018, 1:51 p.m. by The FAIRsharing Team.

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Human genetic variation database, a reference database of genetic variations in the Japanese population.

Higasa K,Miyake N,Yoshimura J,Okamura K,Niihori T,Saitsu H,Doi K,Shimizu M,Nakabayashi K,Aoki Y,Tsurusaki Y,Morishita S,Kawaguchi T,Migita O,Nakayama K,Nakashima M,Mitsui J,Narahara M,Hayashi K,Funayama R,Yamaguchi D,Ishiura H,Ko WY,Hata K,Nagashima T,Yamada R,Matsubara Y,Umezawa A,Tsuji S,Matsumoto N,Matsuda F
J Hum Genet 2016

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  • Research Grant (201238002A) for Intractable Diseases (Ministry of Health, Labour and Welfare, Japan)