Evidence map›Paper›PMID 40835718›Full record

ArticleNPJ digital medicine2025

A novel sequence-based transformer model architecture for integrating multi-omics data in preterm birth risk prediction.

Si Zhou, Chenchen Guan, Siwei Deng, Yibing Zhu, Wenzhi Yang, Xiao Zhang, Xinrui Wang, Jinying Yang, Shida Zhu, Hui Jiang and 6 more

Abstract read
In one paragraph

Article in NPJ digital medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Si Zhou *Institute of Medical Genetics and Development, Key Laboratory of Reproductive Genetics (Ministry of Education) and Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. zhousi_112@163.com.
Chenchen Guan *College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Siwei Deng *OxTium Technology Co. Ltd, Shenzhen, Guangdong, China.
Yibing Zhu *Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Wenzhi YangBGI Genomics, Shenzhen, China.
Xiao ZhangBGI Genomics, Shenzhen, China.
Xinrui WangMedical Research Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Jinying YangLonggang Maternal and Child Health Hospital (Longgang Maternal and Child Clinical College of Shantou University Medical College), Shenzhen, China.
Shida ZhuBGI Genomics, Shenzhen, China.
Hui JiangMGI Tech, Shenzhen, China.
Jianguo ZhangBGI Genomics, Shenzhen, China.
Yongcheng JinOxTium Technology Co. Ltd, Shenzhen, Guangdong, China.
Danling ChengLonggang Maternal and Child Health Hospital (Longgang Maternal and Child Clinical College of Shantou University Medical College), Shenzhen, China.
Hai-Xi SunCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Lijian ZhaoBGI Genomics, Shenzhen, China.
Hefeng HuangInstitute of Medical Genetics and Development, Key Laboratory of Reproductive Genetics (Ministry of Education) and Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. huanghefg@hotmail.com.

Funding

CAMS Innovation Fund for Medical Sciences 2019-I2M-5-064National Natural Science Foundation of China 82088102Science and Technology Program of Longgang District, Shenzhen LGKCYLWS2023019Shenzhen Science and Technology Program 20240724152335001Shenzhen Science and Technology Program JCYJ20240813144105007
6 · The paper itself

Abstract

Preterm birth (PTB) significantly contributes to maternal and perinatal mortality and lifelong morbidity. While large language models (LLM) offer considerable potential for disease risk prediction and early detection, their application to PTB prediction using multi-omics data remains limited. We developed a novel transformer-based architecture for integrating cell free (cfDNA) and cfRNA sequencing data for PTB risk prediction. In the test set, the cfDNA LLM model achieved an AUC of 0.822, and the cfRNA LLM model achieved 0.851. Integrating cfDNA and cfRNA data within the transformer-based framework outperformed both, reaching an AUC of 0.890, a significant improvement over single-modality models. Additionally, we explored cfRNA and cfDNA integration using RNA editing and achieved an AUC of 0.82. This underscores the potential of multi-omics data fusion, with transformer-based architectures providing a powerful framework for disease risk assessment, and demonstrates the potential of AI-driven multi-omics for broader applications in precision obstetrics and biomedicine.

Identifiers

PMID40835718
PMCPMC12368083

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.