Cheng Wei-Yi, Hakenberg Jörg, Li Shuyu Dan, Chen Rong
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Bioinformatics. 2016 Jan 1;32(1):151-3. doi: 10.1093/bioinformatics/btv511. Epub 2015 Sep 12.
A plethora of sequenced and genotyped disease cohorts is available to the biomedical research community, spread across many portals and represented in various formats.
We have gathered several large studies, including GERA and GRU, and computed population- and disease-specific genetic variant frequencies. In total, our portal provides fast access to genetic variants observed in 84,928 individuals from 39 disease populations. We also include 66,335 controls, such as the 1000 Genomes and Scripps Wellderly.
Combining multiple studies helps validate disease-associated variants in each underlying data set, detect potential false positives using frequencies of control populations, and identify novel candidate disease-causing alterations in known or suspected genes.
https://rvs.u.hpc.mssm.edu/divas
Supplementary data are available at Bioinformatics online.
生物医学研究界可获取大量已测序和基因分型的疾病队列，分布在许多门户网站且以各种格式呈现。
我们收集了多项大型研究，包括GERA和GRU，并计算了特定人群和疾病的基因变异频率。总体而言，我们的门户网站提供了对来自39个疾病群体的84928名个体中观察到的基因变异的快速访问。我们还纳入了66335名对照，如千人基因组计划和斯克里普斯老年人研究。
整合多项研究有助于在每个基础数据集中验证与疾病相关的变异，利用对照人群的频率检测潜在的假阳性，并在已知或疑似基因中识别新的候选致病改变。
https://rvs.u.hpc.mssm.edu/divas
补充数据可在《生物信息学》在线获取。
Zotero 插件