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一种用于从脑成像表型中学习基因关联的基础模型。

A foundation model for learning genetic associations from brain imaging phenotypes.

作者信息

Machado Reyes Diego, Burch Myson, Parida Laxmi, Bose Aritra

机构信息

Biomedical Engineering Department, Rensselaer Polytechnic Institute, Troy, NY, 12180, United States.

IBM Research, Yorktown Heights, NY, 10598, United States.

出版信息

Bioinform Adv. 2025 Aug 13;5(1):vbaf196. doi: 10.1093/bioadv/vbaf196. eCollection 2025.

Abstract

MOTIVATION

Due to the intricate etiology of neurological disorders, finding interpretable associations between multiomics features can be challenging using standard approaches.

RESULTS

We propose COMICAL, a contrastive learning approach using multiomics data to generate associations between genetic markers and brain imaging-derived phenotypes. COMICAL jointly learns omics representations utilizing transformer-based encoders with custom tokenizers. Our modality-agnostic approach uniquely identifies many-to-many associations via self-supervised learning schemes and cross-modal attention encoders. COMICAL discovered several significant associations between genetic markers and imaging-derived phenotypes for a variety of neurological disorders in the UK Biobank, as well as prediction of diseases and unseen clinical outcomes from learned representations.

AVAILABILITY AND IMPLEMENTATION

The source code of COMICAL along with pretrained weights, enabling transfer learning, is available at https://github.com/IBM/comical.

摘要

动机

由于神经疾病的病因复杂,使用标准方法在多组学特征之间找到可解释的关联可能具有挑战性。

结果

我们提出了COMICAL,这是一种使用多组学数据的对比学习方法,用于生成遗传标记与脑成像衍生表型之间的关联。COMICAL利用基于Transformer的编码器和自定义分词器联合学习组学表示。我们的模态无关方法通过自监督学习方案和跨模态注意力编码器独特地识别多对多关联。COMICAL在英国生物银行中发现了多种神经疾病的遗传标记与成像衍生表型之间的几个重要关联,以及从学习表示中预测疾病和未见过的临床结果。

可用性和实现

COMICAL的源代码以及预训练权重(支持迁移学习)可在https://github.com/IBM/comical获得。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0430/12410928/5618b7118687/vbaf196f1.jpg

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