TY - JOUR
T1 - MGeND
T2 - an integrated database for Japanese clinical and genomic information
AU - Kamada, Mayumi
AU - Nakatsui, Masahiko
AU - Kojima, Ryosuke
AU - Nohara, Sachio
AU - Uchino, Eiichiro
AU - Tanishima, Shigeki
AU - Sugiyama, Masaya
AU - Kosaki, Kenjiro
AU - Tokunaga, Katsushi
AU - Mizokami, Masashi
AU - Okuno, Yasushi
N1 - Funding Information:
The accumulation of data regarding associations between genotypes and clinical phenotypes is important to accelerate the implementation of genomic medicine in clinical practice. Several databases containing genetic information and their clinical significance have already been released. ClinVar, developed by the National Institutes of Health in the US, provides genomic variant information with supporting evidence and review status1 and is widely utilized for the clinical interpretation of variants. Furthermore, some databases provide variant information regarding specific diseases.
Funding Information:
This work was supported by the Japan Agency for Medical Research and Development (AMED) under grant number JP18kk0205013h0003. We especially acknowledge the members of the research groups for their contributions to provide genomic data and clinical information.
Publisher Copyright:
© 2019, The Author(s).
PY - 2019/12/1
Y1 - 2019/12/1
N2 - To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND). In its first release, MGeND provides data regarding genomic variations in Japanese individuals, collected by research groups in five disease fields. These variations consist of curated SNV/INDEL variants and susceptibility variants for diseases established by genome-wide association study analysis. Furthermore, we recorded the frequencies of HLA alleles in infectious disease populations.
AB - To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND). In its first release, MGeND provides data regarding genomic variations in Japanese individuals, collected by research groups in five disease fields. These variations consist of curated SNV/INDEL variants and susceptibility variants for diseases established by genome-wide association study analysis. Furthermore, we recorded the frequencies of HLA alleles in infectious disease populations.
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U2 - 10.1038/s41439-019-0084-4
DO - 10.1038/s41439-019-0084-4
M3 - Article
AN - SCOPUS:85076318532
SN - 2054-345X
VL - 6
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 53
ER -
