Human Genetic Variation Database

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.

人类遗传变异数据库（Human Genetic Variation Database，HGVD）旨在构建核心资源库，用于存档并展示日本人群的遗传变异，以及遗传变异与基因转录水平之间的关联。该数据库当前收录了1208名个体的外显子组测序遗传变异数据，以及来自3248名个体组成的队列的常见变异基因分型数据。HGVD浏览器可用于查询等位基因频率、基因型频率、样本量、测序覆盖度以及表达数量性状位点（expression QTL，eQTL）的显著性水平。

搜集汇总

背景与挑战

背景概述

该数据库是一个专注于日本人群遗传变异的资源，旨在归档和展示遗传变异及其与基因转录水平的关联。它包含1,208个个体的外显子组测序数据和3,248个个体的常见变异基因分型数据，用户可通过浏览器查看等位基因频率、样本数、覆盖度和eQTL显著性等信息。