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

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.

Figure 1

Weak relationship between strength of ASD-related genetic evidence and the resulting number of scientific publications. Consistent with a disconnect between attention from the research community and evidence in support of individual genes, the number of publications for individual genes is highly variable and only weakly related to gene category. Publication numbers for each gene were obtained via Pubmed, extracting publications containing the query: "(autism OR autistic) AND ('Gene symbol')" in the title or abstract to obtain a count for each scored gene. To minimize false positives, results were manually curated. Publication number was then plotted as a function of both gene category (colors) and years post publication. ASD, autism spectrum disorder.