Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0003756 |
Description | A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. [NCIT: P378] | Trait category |
Neurological disorder
|
Synonyms |
19 synonyms
|
Mapped term(s) |
9 mapped terms
|
Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000327 | ASD2019 | PGP000098 Grove J et al. Nat Genet (2019) | Autism spectrum disorder | autism spectrum disorder | 35,087 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000327/ScoringFiles/PGS000327.txt.gz |
PGS Performance Metric ID (PPM ID) |
Evaluated Score |
PGS Sample Set ID (PSS ID) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
PGS Classification Metrics | Other Metrics | Covariates Included in the Model | PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM000879 | PGS000327 (ASD2019) | PSS000435 | PGP000098 Grove J et al. (2019) |
Reported Trait: Autism spectrum disorder | OR: 1.33 [1.3, 1.36] | — | R²: 0.0245 | Genetic PCs, genotyping wave | *Pooled cross-validation performance on 1/5th of iPSYCH sample. PRS is based on full iPSYCH+PGC GWAS |
PGS Sample Set ID (PSS ID) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
PSS000435 | Cases were selected from the iPSYCH sample as those diagnosed with ASD in 2013 or earlier by a psychiatrist according to ICD10, including diagnoses of childhood autism (ICD10 code F84.0), atypical autism (F84.1), Asperger’s syndrome (F84.5), other pervasive developmental disorders (F84.8), and pervasive developmental disorder, unspecified (F84.9). As controls we selected from the random iPSYCH control cohort children that did not have an ASD diagnosis by 2013. | — | [
|
Mean (Age At Diagnosis) = 10.0 years Range = [10.0, 14.0] years |
European | — | iPSYCH | Average case/control numbers of each fold used in cross-validation (1/5th of total iPSYCH). |