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

Introduction #

Meterials and methods #

Subjects #

Exome sequencing and variation detection #

Identification of novel variations and functional prediction of genetic variations #

Allele frequency spectrum #

Nucleotide diversity eistimation #

Fixation index calculation #

Functional enrichment analysis for the genes haveing high Fst and diversity #

Quality control and genetic analysis for genotyping data set #

Evaluation of Japanese major allele reference sequence #

Results #

Japanese genetic variation database #

Exome sequencing #

Allele frequency spectrum and function impact of Japanese genetic variants #

Signatures of natural selection in the Japanese genome #

Construction of Japanese manor-allele frequence sequences #

Discussion #

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