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SFARI Gene 2.0:一个自闭症谱系障碍(ASDs)的社区驱动知识库。

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).

机构信息

Departments of Genetics and Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

出版信息

Mol Autism. 2013 Oct 3;4(1):36. doi: 10.1186/2040-2392-4-36.

Abstract

New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although encouraging, the volume and complexity of these data make it challenging for scientists, particularly non-geneticists, to comprehensively evaluate available evidence for individual genes. Described here is the Gene Scoring module within SFARI Gene 2.0 (https://gene.sfari.org/autdb/GS_Home.do), a platform developed to enable systematic community driven assessment of genetic evidence for individual genes with regard to ASD.

摘要

新技术使得全基因组研究成为可能,这导致了大量且快速增长的自闭症谱系障碍(ASD)候选基因。尽管令人鼓舞,但这些数据的数量和复杂性使得科学家们(尤其是非遗传学家)难以全面评估单个基因的现有证据。本文介绍了 SFARI Gene 2.0(https://gene.sfari.org/autdb/GS_Home.do)中的基因评分模块,该平台旨在使社区能够系统地对与 ASD 相关的单个基因的遗传证据进行评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aef/3851189/4cf2516cc3f1/2040-2392-4-36-1.jpg

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