论文标题

SNP2VEC:全基因组关联研究的可扩展自我监督预培训

SNP2Vec: Scalable Self-Supervised Pre-Training for Genome-Wide Association Study

论文作者

Cahyawijaya, Samuel, Yu, Tiezheng, Liu, Zihan, Mak, Tiffany T. W., Zhou, Xiaopu, Ip, Nancy Y., Fung, Pascale

论文摘要

自我监督的预训练方法在理解文本,图像和语音方面带来了显着的突破。基因组学的最新发展还采用了这些预训练方法来理解基因组。但是,它们仅专注于理解单倍体序列,这阻碍了其对理解遗传变异的适用性,也称为单核苷酸多态性(SNP),这对于全基因组关联研究至关重要。在本文中,我们介绍了SNP2VEC,这是一种可扩展的自我监督的预训练方法,可用于理解SNP。我们应用SNP2VEC进行长期序列基因组学建模,并评估方法在预测中国队列中预测阿尔茨海默氏病风险方面的有效性。我们的方法显着优于现有的多基因风险评分方法和所有其他基线,包括完全用单倍体序列训练的模型。我们在https://github.com/hltchkust/snp2vec上发布代码和数据集。

Self-supervised pre-training methods have brought remarkable breakthroughs in the understanding of text, image, and speech. Recent developments in genomics has also adopted these pre-training methods for genome understanding. However, they focus only on understanding haploid sequences, which hinders their applicability towards understanding genetic variations, also known as single nucleotide polymorphisms (SNPs), which is crucial for genome-wide association study. In this paper, we introduce SNP2Vec, a scalable self-supervised pre-training approach for understanding SNP. We apply SNP2Vec to perform long-sequence genomics modeling, and we evaluate the effectiveness of our approach on predicting Alzheimer's disease risk in a Chinese cohort. Our approach significantly outperforms existing polygenic risk score methods and all other baselines, including the model that is trained entirely with haploid sequences. We release our code and dataset on https://github.com/HLTCHKUST/snp2vec.

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