Resource

Id:gene_properties/gene_scores/SFARI_gene_score
Type:gene_score
Summary: SFARI gene score release 01-13-2021
Description:

Introduction

SFARI Gene (https://gene.sfari.org/) is a comprehensive database that includes any gene associated with autism risk, regardless of the nature of the evidence supporting its link to ASD. Embracing this inclusive approach may result in a considerable number of false positives. Hence, there's a recognition of the necessity to establish a ranking system. This system provides users with an estimate of the evidence strength supporting each gene's link to autism. In collaboration with MindSpec curators and a team of expert autism geneticists, a set of criteria has been established. These criteria facilitate the categorization of genes into one of four tiers. This framework aids users in easily identifying genes with a more robust association with autism risk.

Score definitions

CATEGORY 1 (High Confidence)

Each of these genes has been clearly implicated in ASD-typically by the presence of at least three de novo likely-gene-disrupting mutations being reported in the literature-and such mutations identified in the sequencing of the SPARK cohort are typically returned to the participants. Some of these gene meet the most rigorous threshold of genome-wide significance; all at least meet a threshold false discovery rate of < 0.1.

CATEGORY 2 (Strong Candidate)

Genes with two reported de novo likely-gene-disrupting mutations.

A gene uniquely implicated by a genome-wide association study, either reaching genome-wide significance or, if not, consistently replicated and accompanied by evidence that the risk variant has a functional effect.

CATEGORY 3 (Suggestive Evidence)

Genes with a single reported de novo likely-gene-disrupting mutation.

Evidence from a significant but unreplicated association study, or a series of rare inherited mutations for which there is not a rigorous statistical comparison with controls.

Processing Details

SFARI-Gene_genes_01-13-2021release_05-04-2021export.csv downloaded on 2021 May 4 from https://gene.sfari.org/tools/.

DataPrep.py utilizes the 'SFARI gene score' column in the downloaded file and filters out rows containing missing values, resulting in SFARI_gene_score.csv.gz.

Labels:

Gene scores file:

SFARI-Gene_genes_01-13-2021release_05-04-2021export.csv

Gene score definitions:

Gene score ID: SFARI gene score

Description:

Histograms:

SFARI gene score

SFARI

Files

Filename Size md5
SFARI-Gene_genes_01-13-2021release_05-04-2021export.csv 101.72 KB 819d4ba5ba0869ee868f63ede0dd5b28
genomic_resource.yaml 2.84 KB 0621cdac8594f1cd8e0192a55989517a
statistics/