DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Autism spectrum disorder-related traits. The EFO term autism spectrum disorder symptom was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: autism spectrum disorder symptom

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

P Chaste, L Klei, SJ Sanders, V Hus, MT Murtha, JK Lowe, AJ Willsey, D Moreno-De-Luca, TW Yu, E Fombonne, D Geschwind, DE Grice, DH Ledbetter, SM Mane, DM Martin, EM Morrow, CA Walsh, JS Sutcliffe, C Lese Martin, AL Beaudet, C Lord, MW State, EH Cook, B Devlin

TITLE:

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

JOURNAL:

Biological psychiatry May 2015, Vol 77, pp. 775-84

ABSTRACT:

Phenotypic heterogeneity in autism has long been conjectured to be a major hindrance to the discovery of genetic risk factors, leading to numerous attempts to stratify children based on phenotype to increase power of discovery studies. This approach, however, is based on the hypothesis that phenotypic heterogeneity closely maps to genetic variation, which has not been tested. Our study examines the impact of subphenotyping of a well-characterized autism spectrum disorder (ASD) sample on genetic homogeneity and the ability to discover common genetic variants conferring liability to ASD. PUBMED: 25534755
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