DNA 罗盘：一个安全的、客户端的个人遗传信息导航网站。

DNA Compass: a secure, client-side site for navigating personal genetic information.

机构信息

New York Genome Center, New York, NY, USA.

Department of Computer Science, Fu Foundation School of Engineering, Columbia University, New York, NY, USA.

出版信息

Bioinformatics. 2017 Jul 15;33(14):2191-2193. doi: 10.1093/bioinformatics/btx135.

DOI:10.1093/bioinformatics/btx135

PMID:28334237

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5870659/

Abstract

MOTIVATION

Millions of individuals have access to raw genomic data using direct-to-consumer companies. The advent of large-scale sequencing projects, such as the Precision Medicine Initiative, will further increase the number of individuals with access to their own genomic information. However, querying genomic data requires a computer terminal and computational skill to analyze the data-an impediment for the general public.

RESULTS

DNA Compass is a website designed to empower the public by enabling simple navigation of personal genomic data. Users can query the status of their genomic variants for over 1658 markers or tens of millions of documented single nucleotide polymorphisms (SNPs). DNA Compass presents the relevant genotypes of the user side-by-side with explanatory scientific resources. The genotype data never leaves the user's computer, a feature that provides improved security and performance. More than 12 000 unique users, mainly from the general genetic genealogy community, have already used DNA Compass, demonstrating its utility.

AVAILABILITY AND IMPLEMENTATION

DNA Compass is freely available on https://compass.dna.land .

CONTACT

yaniv@cs.columbia.edu.

摘要

动机

数以百万计的个人可以通过直接面向消费者的公司访问原始基因组数据。大规模测序项目（如精准医学倡议）的出现将进一步增加能够访问自己基因组信息的人数。但是，查询基因组数据需要计算机终端和计算技能来分析数据——这对于普通大众来说是一个障碍。

结果

DNA Compass 是一个网站，旨在通过使个人基因组数据的简单导航来赋予公众权力。用户可以查询超过 1658 个标记或数千万个记录的单核苷酸多态性 (SNP) 的基因组变异状态。DNA Compass 将用户的相关基因型与解释性科学资源并列呈现。基因型数据从未离开过用户的计算机，这一特性提供了更高的安全性和性能。已经有超过 12000 名独特的用户，主要来自普通的遗传家谱社区，已经使用了 DNA Compass，证明了它的实用性。