Novel Gene-Based Analysis of ASD GWAS: Insight Into the Biological Role of Associated Genes.

ABSTRACT: Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by its significant social impact and high heritability. The latest meta-analysis of ASD GWAS (genome-wide association studies) has revealed the association of several SNPs that were replicated in additional sets of independent samples. However, summary statistics from GWAS can be used to perform a gene-based analysis (GBA). GBA allows to combine all genetic information across the gene to create a single statistic (p-value for each gene). Thus, PASCAL (Pathway scoring algorithm), a novel GBA tool, has been applied to the summary statistics from the latest meta-analysis of ASD. GBA approach (testing the gene as a unit) provides an advantage to perform an accurate insight into the bi

SUBMITTER: Alonso-Gonzalez A 

PROVIDER: S-EPMC6696953 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature