Neo-Pred:全变异来源的肿瘤新生抗原检测流程OA
Neo-Pred:A comprehensive workflow for detecting tumor neoantigens from all types of mutation sources
基于体细胞突变产生的新生抗原因其肿瘤特异性高、免疫原性强且不表达于正常组织的特点,成为激活抗肿瘤 T 细胞应答的理想靶点.目前能全面检测来自不同变异来源的新生抗原的生物信息学工具仍然很匮乏.基于 Snakemake 流程管理工具,我们开发了 Neo-Pred 肿瘤新生抗原检测流程,它可以读取高通量测序数据,检测单核苷酸变异(Single nucleotide vari-ant,SNV)、插入缺失(Insertion-deletion,InDel)、基因融合、可变剪接多种变异衍生的新生抗原.我们在肿瘤新生抗原筛选联盟提供的基准数据集上进行了测试,其新生抗原检出的性能为精确率-召回率曲线下面积(Area under the precision-recall curve,AUPRC)0.71,领先于肿瘤新生抗原筛选联盟其他参与团队(全部参与机构均值为 0.221,其中表现最好的团队均值为0.540),筛选性能提升 31.5%~221.3%,展示出领先的新生抗原检测能力.通过 Singularity 容器化和模块化设计,Neo-Pred 实现了良好的稳定性、可移植性与动态扩展性.
Neoantigens derived from somatic mutations have emerged as ideal targets for activating anti-tumor T-cell responses due to their high tumor specificity,strong immunogenicity,and absence of expression in normal tissues.Current bioinformatics tools remain limited in comprehensively detecting neoantigens originating from diverse genomic variations.To address this challenge,we developed Neo-Pred,a tumor neoantigen detection pipeline based on the Snakemake workflow management system.This pipeline processes high-throughput sequencing data to identify neoantigens derived from multiple variant types,including single nucleotide variants(SNVs),insertions-deletions(InDels),gene fusions,and alternative splicing.When evaluated on the benchmark dataset from the Tumor Neoantigen Screening Consortium,Neo-Pred demonstrated superior performance with an Area Under the Precision-Recall Curve(AUPRC)of 0.71(mean AUPRC:0.221 for all teams;0.540 for the top-performing team).This represents a performance improvement of 31.5%to 221.3%,highlighting its leading-edge detection capabilities.The implementation of Singularity containerization and modular architecture ensures remarkable stability,portability,and dynamic scalability.These technical advancements establish Neo-Pred as a cutting-edge solution for neoantigen detection,providing critical support for precision cancer immunotherapy research.
杜航;唐景玲;周玲;杨远
贵州医科大学附属医院 临床医学研究中心 贵阳 550004||贵州生诺生物科技有限公司 贵阳 550004贵州医科大学附属医院 临床医学研究中心 贵阳 550004贵州生诺生物科技有限公司 贵阳 550004贵州医科大学附属医院 临床医学研究中心 贵阳 550004
医药卫生
新生抗原单核苷酸突变基因融合可变剪接流程
NeoantigenSingle nucleotide variantGene fusionAlternative splicingWorkflow
《生物信息学》 2026 (1)
95-100,6
国家自然科学基金(No.82260584)贵州省科技厅项目(No.黔科合支撑[2022]一般193、黔科合基础-ZK[2023]一般359、黔科合支撑[2023]一般373)贵州医科大学附属医院2024年国家自然科学基金培育计划(地区基金)(No.gyfynsfc[2024]-21).
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