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

By B. Abrahams, Dan E. Arking, D. Campbell, H. Mefford, Eric M. Morrow, L. Weiss, Idan Menashe, Timothy H. Wadkins, S. Banerjee-Basu, A. Packer. Molecular Autism, 2013

812 citations recorded by the source corpus.

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.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/f037139cf3887438cca2f09067f728ec56a013c0

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cognitive Neuroscience

1. Daniel H. Geschwind

In Genetics

1. Michael Jeffrey Gandal
2. Daniel H. Geschwind
3. Andrew E. Jaffe
4. S. Mazmanian

In Molecular Biology

1. Michael Jeffrey Gandal
2. Rosa Krajmalnik-Brown
3. Elhanan Borenstein
4. Michael J. Sweredoski
5. Daniel H. Geschwind
6. Janet K. Jansson
7. Stephanie C. Hicks
8. Andrew E. Jaffe

Citations in the corpus

• Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice (2019, methodology): “We examined curated lists of high-confidence ASD risk genes, namely SPARK for Autism and the SFARI Gene datasets (Abrahams et al., 2013) (Figure 3C; Table S2).”
• Transcriptome-scale spatial gene expression in the human dorsolateral prefrontal cortex (2020, methodology): “(​A​) Autism spectrum disorder (ASD) laminar enrichments for SFARI ​(Abrahams et al., 2013)​ and Satterstrom ​et al​ ​(Satterstrom et al.”
• FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders (2015, neutral): “…respect to the SFARI autism gene dataset, a collection of genetic information that includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD (https://gene.sfari.org) (SFARI category S to 4) (Abrahams et al., 2013) (p value = 6.51E-5).”