openSNP

Genome-Wide Association Studies are widely used to correlate phenotypic traits with genetic variants. These studies usually compare the genetic variation between two groups to single out certain Single Nucleotide Polymorphisms (SNPs) that are linked to a phenotypic variation in one of the groups. However, it is necessary to have a large enough sample size to find statistically significant correlations. Direct-To-Consumer (DTC) genetic testing can supply additional data: DTC-companies offer the analysis of a large amount of SNPs for an individual at low cost without the need to consult a physician or geneticist. Over 100,000 people have already been genotyped through Direct-To-Consumer genetic testing companies. However, this data is not public for a variety of reasons and thus cannot be used in research. It seems reasonable to create a central open data repository for such data. Here we present the web platform openSNP, an open database which allows participants of Direct-To-Consumer genetic testing to publish their genetic data at no cost along with phenotypic information.全基因组关联研究（Genome-Wide Association Studies）被广泛应用于表型性状与遗传变异的关联分析。此类研究通常通过对比两组间的遗传差异，筛选出与其中一组表型变异相关的特定单核苷酸多态性（Single Nucleotide Polymorphisms, SNPs）。然而，若要获得具有统计学显著性的关联结果，需具备足够大的样本量。直接面向消费者（Direct-To-Consumer, DTC）基因检测可提供额外的数据资源：此类企业无需咨询医师或遗传学家，便能以低成本为个体提供大量单核苷酸多态性的分析服务。目前已有超过10万人通过DTC基因检测公司完成了基因分型。但由于多种原因，此类数据并未公开，因此无法用于科研工作。为此，建立一个集中式的开放数据存储库以收纳此类数据，显得尤为合理。本文介绍了开源平台openSNP——一个允许直接面向消费者基因检测的参与者免费发布其遗传数据及表型信息的开放数据库。

搜集汇总

背景与挑战

背景概述

openSNP曾是一个开放数据平台，允许直接面向消费者基因测试的用户公开分享其基因型和表型数据，以促进科学研究。该项目已于2024年4月10日关闭，所有存储的数据已被删除。