北京协和医学院基础学院

龙尔平

职称：研究员
导师类别：博士生导师
邮箱：erping.long@ibms.pumc.edu.cn
电话：
所属重点实验室：呼吸和共病全国重点实验室

基本情况

科教领域及主要成果

代表性论著

团队成员

龙尔平，研究员博士生导师、国家海外优青。专注医学人工智能和组学大数据研究，原创论文发表于Nature Medicine、Nature Biomedical Engineering（封面论文2篇）、Nature Genetics、Nature Ecology& Evolution等期刊；在Science、Lancet发表观点述评；成果入选Nature亮点研究报道；主持“科技创新2030”国家重大科技专项（首席科学家）、国自然-重大疾病智慧医疗专项；获“华人生命科学博士最高荣誉”吴瑞奖、“中国智能科学技术最高奖”吴文俊人工智能科技进步一等奖。

实验室英文网站（Google Site）：https://sites.google.com/view/erping-long-lab

课题组从事两个相对独立但相互支撑的方向：

一、组学大数据与疾病遗传机制解析

课题组以GWAS为核心，系统整合单细胞组学、高通量功能基因组学、多组学数据及大规模人群队列，深入解析复杂疾病（尤其是呼吸系统疾病）的遗传易感性机制。研究重点包括GWAS风险基因座中功能变异与致病基因的精准定位，关键组织与细胞类型的识别，不同疾病之间的遗传共性与功能多效性，以及进化在疾病易感性形成中的作用，旨在从多维度构建疾病遗传调控的系统性图谱。

二、医学人工智能的技术研发与应用

课题组面向真实世界医学场景，发展和应用前沿人工智能技术，包括深度学习和大语言模型，推动遗传数据、组学信息与临床数据的跨模态融合。通过医学大数据驱动的智能算法，探索疾病风险评估、早期筛查、精准诊断与个体化干预的新方法，并进一步研究大模型在临床决策支持和智慧医疗系统中的可解释性、可靠性与落地应用，促进算法能力向临床价值的转化。

^*Equal contributor ^#Corresponding author

1. Outpatient reception via collaboration between nurses and a large language model: a randomized controlled study

Wan P*, Huang Z*, … Chen Q#, Long E#

Nature Medicine. 2024 (Original Article)

(Highlighted by Nature Medicine, ‘Improving primary healthcare with generative AI’)

2. Model confrontation and collaboration: a debate intelligence framework for enhancing medical reasoning in large language models

Sun X*, Hong Q*, … Wan P#, Long E#

Cell Reports Medicine. 2025 (Original Article)

3. Genetic determinants of gene expression noise and its role in complex trait variation

Long Y*, Ni X#*, Chen T*, … Wan P#, Long E#

Cell Reports. 2025 (Original Article)

4. Discrimination of the behavioural dynamics of visually impaired infants via deep learning

Long E*, Liu Z*, Xiang Y*, …, Lin H#, Liu Y#

Nature Biomedical Engineering. 2019 (Cover Highlights)

5. An artificial intelligence platform for multihospital collaborative management of congenital cataracts

Long E*, Lin H*#, …, Liu Y#

Nature Biomedical Engineering. 2017 (Cover Highlights, 402 citations)

(Highlighted by Nature Biomedical Engineering, ‘Computational medicine: A cybernetic eye for rare disease’)

6. Retesting the influences of mutation accumulation and antagonistic pleiotropy on human senescence and disease

Long E, Zhang J#

Nature Ecology & Evolution. 2019

7. The coupon collection behavior in human reproduction

Long E, Zhang J#

Current Biology. 2020

(Highlighted by Nature, ‘Parents desire for one boy and one girl pushed trend in family patterns’)

8. Decoding genetic susceptibility to human diseases via artificial intelligence

Long E*#, Wan P*, …, Choi J#

Cell Genomics. 2023

9. Trans-ancestry genome-wide meta-analysis of 60,290 cases and 896,712 controls identifies novel genomic cross-ancestry loci contributing to lung cancer susceptibility

Byun J*, Han Y*, Li Y*, Xia J*, Long E*, Choi J, …, Amos CI#

Nature Genetics. 2022

(Highlighted by Cancer Discovery, ‘Cross-ancestry Genomic Data Reveal New Susceptibility Loci in Lung Cancer’)

10. Evidence for the role of selection for reproductively advantageous alleles in human aging

Long E, Zhang J#

Science Advances. 2023

(Highlighted by The New York Times, ‘Genes That Boost Fertility Also Shorten Our Life’)

11. Context-aware single-cell multiomics approach identifies cell-type specific lung cancer susceptibility genes

Long E*, Yin J*, Shin JH*, Li Y*, ...Lee JG#, Kim EY#, Choi J#

Nature Communications. 2024

12. The case for increasing diversity in tissue-based functional genomics datasets to understand human disease susceptibility

Long E, …, Choi J#.

Nature Communications. 2022

13. An evolving understanding of multiple causal variants underlying genetic association signals

Long E*#, William J*, …, Choi J#

American Journal of Human Genetics. 2025

14. High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility

Long E*#, Patel H*, …, Choi J#

American Journal of Human Genetics. 2024

15. Massively parallel reported assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity

Long E*, Yin J*, …, Choi J#

American Journal of Human Genetics. 2022

(Highlighted by American Journal of Human Genetics, ‘Paving a post-GWAS pathway’)

16. Expectations of medical students in China

Wan P, Long E#

Lancet. 2016 (Letter)

17. Pollution Control for a Healthier Chinese Population

Wan P, Long E#

Lancet Planetary Health. 2018 (Letter)

18. Documenting rare disease data in China.

Lin H, Long E, Chen W, Liu Y#.

Science. 2015 (Letter)