# Copy Number Variation Informs fMRI-based Prediction of Autism Spectrum Disorder

arXiv: https://arxiv.org/abs/2308.05122 · HTML: https://mlsanity.com/paper/2308.05122/

## Key facts

- Cited by 1 papers in the map (data through 14 Oct 2026).
- Builds on 3 of its 26 references that are in the map.
- First posted on arXiv 8 Aug 2023.

## Builds on (most cited first, 3 of 3)

- [Attention Is All You Need](https://mlsanity.com/paper/1706.03762/) (2017)
- [Adam: A Method for Stochastic Optimization](https://mlsanity.com/paper/1412.6980/) (2014)
- [Spectral Graph Convolutions for Population-based Disease Prediction](https://mlsanity.com/paper/1703.03020/) (2017)

## Built on by (most cited first, 1 of 1)

- [Learning Explainable Imaging-Genetics Associations Related to a Neurological Disorder](https://mlsanity.com/paper/2508.18303/) (2025)

## Abstract (arXiv)

The multifactorial etiology of autism spectrum disorder (ASD) suggests that its study would benefit greatly from multimodal approaches that combine data from widely varying platforms, e.g., neuroimaging, genetics, and clinical characterization. Prior neuroimaging-genetic analyses often apply naive feature concatenation approaches in data-driven work or use the findings from one modality to guide posthoc analysis of another, missing the opportunity to analyze the paired multimodal data in a truly unified approach. In this paper, we develop a more integrative model for combining genetic, demographic, and neuroimaging data. Inspired by the influence of genotype on phenotype, we propose using an attention-based approach where the genetic data guides attention to neuroimaging features of importance for model prediction. The genetic data is derived from copy number variation parameters, while the neuroimaging data is from functional magnetic resonance imaging. We evaluate the proposed approach on ASD classification and severity prediction tasks, using a sex-balanced dataset of 228 ASD and typically developing subjects in a 10-fold cross-validation framework. We demonstrate that our attention-based model combining genetic information, demographic data, and functional magnetic resonance imaging results in superior prediction performance compared to other multimodal approaches.
