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Simons Simplex Collection
simons simplex collection

The Simons Simplex Collection (SSC) is a core project and resource of the Simons Foundation Autism Research Initiative (SFARI). The primary goal of the SSC is to establish a permanent repository of genetic samples from 3,000 families, each of which has one child affected with an Autism Spectrum Disorder (ASD) and parents unaffected with ASD. Each genetic sample will have an associated collection of data that provides a precise characterization of the individual (phenotype). Rigorous phenotyping will maximize the value of the resource for a wide variety of future research projects into the causes and mechanisms of autism.

 

SFARI Base
sfari database computer

The research being conducted under SFARI is generating exciting new data and biological materials. SFARI Base is an online tool that enables researchers to explore data, make queries, and place requests for data and biomaterials. The Simons Simplex Collection (SSC) is currently a major source of phenotype and genotype data about families affected with autism, as well as blood specimens, cell lines and DNA. Additional sources of data and biomaterials will be announced as they become available.

 

SFARI Gene
sfari gene dna

Recent advances in research on Autism Spectrum Disorders (ASD) is uncovering putative candidate genes and loci at an accelerated pace. To address the genetic complexity of ASD, we have developed SFARI Gene, a publicly available web-portal for on-going collection, manual annotation, and visualization of genes linked to the disorder from the published literature. We present a disease-driven database model in SFARI Gene where all genes connected to ASD are assembled from various genetic categories: candidates identified from genetic association studies, rare single gene mutations, and genes linked to syndromic autism. Genes are richly annotated for their relevance to ASD, along with in-depth annotation providing current knowledge of gene functions. The main focus of this resource is to provide an up-to-date, annotated list of ASD candidate genes in the form of reference datasets. Our goal is to capture a comprehensive view of the rapidly evolving field of autism genetics.

 

 

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