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Modeling the autism spectrum disorder phenotype.

Alexa T McCray¹, Philip Trevvett, H Robert Frost

¹Center for Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA, alexa_mccray@hms.harvard.edu.

Neuroinformatics

|October 29, 2013

Summary

Researchers developed an Autism Spectrum Disorder (ASD) phenotype ontology to improve access to neurodevelopmental disorder data. This ontology aids in comparing assessment instruments and correlating behavioral features with genetic data.

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Area of Science:

Neuroscience
Genetics
Bioinformatics

Background:

Autism Spectrum Disorder (ASD) is highly heritable, yet diagnosis relies on behavioral assessments.
Large-scale initiatives have collected extensive data from families affected by ASD.

Purpose of the Study:

To develop an ontology for improved data access in ASD and neurodevelopmental disorder research.
To assess and compare characteristics of ASD assessment instruments.

Main Methods:

Analyzed two dozen ASD assessment instruments, examining questions, content scope, and delivery methods.
Developed an ASD phenotype ontology iteratively, integrating literature and instrument data.
Integrated the ontology with the Autism Consortium database.

Main Results:

The final ontology includes 283 concepts across 'Personal Traits', 'Social Competence', and 'Medical History'.
Enables ontology-based querying of the Autism Consortium database.
Facilitates objective assessment of instrument overlap and comparison.

Conclusions:

The ASD phenotype ontology enhances research by providing concept-based data access.
It supports identifying important behavioral features and correlating them with genotypic data.
Promises utility in research settings with extensive phenotypic data.