LAVAA：一款跨疾病的轻量级关联查看器。
LAVAA: a lightweight association viewer across ailments.
作者信息
Fauman Eric B, Keppo Stella, Cerioli Nicola, Vyas Rupesh, Kurki Mitja, Daly Mark, Reeve Mary Pat
机构信息
Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA.
Visual Communication Design, Aalto University, Espoo 02150, Finland.
出版信息
Bioinform Adv. 2023 Feb 15;3(1):vbad018. doi: 10.1093/bioadv/vbad018. eCollection 2023.
MOTIVATION
Biobank scale genetic associations results over thousands of traits can be difficult to visualize and navigate.
RESULTS
We have created LAVAA, a visualization web-application to generate genetic volcano plots for simultaneously considering the -value, effect size, case counts, trait class and fine-mapping posterior probability at a single-nucleotide polymorphism (SNP) across a range of traits from a large set of genome-wide association study. We find that user interaction with association results in LAVAA can enrich and enhance the biological interpretation of individual loci.
AVAILABILITY AND IMPLEMENTATION
LAVAA is available as a stand-alone web service (https://geneviz.aalto.fi/LAVAA/) and will be available in future releases of the finngen.fi website starting with release 10 in late 2023.
动机
生物样本库规模的数千种性状的基因关联结果可能难以可视化和浏览。
结果
我们创建了LAVAA，这是一个可视化网络应用程序，用于生成基因火山图，以便在来自大量全基因组关联研究的一系列性状的单核苷酸多态性（SNP）处同时考虑p值、效应大小、病例数、性状类别和精细定位后验概率。我们发现，用户与LAVAA中的关联结果进行交互可以丰富和增强对单个基因座的生物学解释。
可用性和实现方式
LAVAA作为独立的网络服务（https://geneviz.aalto.fi/LAVAA/）可用，并且将在2023年末发布的第10版开始在finngen.fi网站的未来版本中提供。
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