默赛生基因科技(重庆)有限公司 Mosaisheng Gene Technology (Chongqing) Co., Ltd.
以 DNA 甲基化谱为核心,攻坚中枢神经系统肿瘤的分类难题与算法模型解决方案 DNA methylation profiling at the core — algorithms, models and research collaboration for CNS tumor classification
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科研实例与合作Research in action

经同行评议的甲基化分类研究Peer-reviewed methylation classification research

创始人以第一作者发表的代表性研究,与分类器的真实输出——可作为科研合作能力的直接佐证。Selected first-author studies and real classifier output — direct evidence of our research-collaboration capability.

PGNT t-SNE 聚类
乳头状胶质神经元肿瘤(PGNT)的特征性甲基化谱 t-SNE 聚类Characteristic methylation t-SNE clustering of papillary glioneuronal tumor (PGNT)
Hou Y, et al. Acta Neuropathologica, 2019 · 第一作者first author
CIC 融合肿瘤 t-SNE 聚类
CIC 融合中枢神经系统肿瘤的甲基化谱 t-SNE 分析Methylation t-SNE analysis of CIC-fused CNS tumors
Hou Y, et al. Acta Neuropathologica Communications, 2024 · 第一作者first author
AICNS v2 报告示例
AICNS v2 分类器输出报告示例Sample output report from the AICNS v2 classifier
分层分类 + 三态判读 + t-SNE/CNV(科研用途·示例数据)hierarchical class + three-state readout + t-SNE/CNV (research use · demo data)

第一作者代表性论著Selected first-author publications

  • Hou Y, Pinheiro J, Sahm F, et al. Papillary glioneuronal tumor exhibits a characteristic methylation profile and fusions involving PRKCA. Acta Neuropathologica, 2019.
  • Hou Y, Du Y, et al. Pediatric CNS tumor with CIC::LEUTX fusion: a diagnostic challenge. Acta Neuropathologica Communications, 2024.
  • Xu Y, Hou Y, Gao X, et al. High-grade neuroepithelial neoplasms harbouring EP300::BCOR fusions. Brain Pathology, 2023.
  • Hou Y, Sahm F. What the neuropathologist needs to tell the clinician concerning WHO CNS5. Glioma, 2023.
核心业务 · 科研服务Core business · Research services

CNS 肿瘤甲基化临床研究的检测与数据分析服务Detection & data analysis for CNS-tumor methylation research

我们对外提供完整的中枢神经系统肿瘤甲基化临床研究科研服务:从样本检测、本地队列模型验证,到聚类与数据分析,再到课题与文章的设计思路和方法学指导。End-to-end research services for CNS-tumor methylation studies — assay and local-cohort model validation, clustering and data analysis, and study & manuscript design.

01

甲基化检测与本地模型验证Profiling & local-cohort validation

Methylation assay & model validation

芯片 / 纳米孔甲基化检测,经 AICNS 分类器判读,并在你的本地样本队列上完成模型验证与阈值校准。Array / Nanopore methylation profiling, read by the AICNS classifier, with model validation and threshold calibration on your local cohort.

  • 双平台检测:Illumina 450K / EPIC / EPICv2 与 Oxford Nanopore。Dual-platform assay: Illumina 450K/EPIC/EPICv2 and Oxford Nanopore.
  • AICNS 分类器判读:104 参照群、三态校准判读与离群检测。AICNS classification: 104 reference classes, calibrated three-state readout and OOD detection.
  • 本地队列验证:在你的样本上做独立验证与阈值校准。Local-cohort validation: independent validation and threshold calibration on your samples.
  • 辅助分析:MGMT-STP27、拷贝数变异(CNV)。Ancillary: MGMT-STP27 and copy-number variation (CNV).
02

聚类分析与数据处理Clustering & data analysis

Clustering & bioinformatics

t-SNE / UMAP 聚类与降维可视化,以及从原始数据到结果的完整生物信息学处理。t-SNE/UMAP clustering and dimensionality reduction, plus a complete bioinformatics pipeline from raw data to results.

  • 聚类与降维:t-SNE / UMAP 聚类、临近群定位与可视化。Clustering & embedding: t-SNE/UMAP clustering, neighbor localization and visualization.
  • 数据处理:IDAT / bedMethyl → beta 矩阵预处理、质控、平台对齐。Data processing: IDAT/bedMethyl → beta-matrix preprocessing, QC and cross-platform harmonization.
  • 进阶分析:差异甲基化、CNV 与多组学整合。Advanced analysis: differential methylation, CNV and multi-omics integration.
  • 发表级图表:可直接用于论文的聚类图与结果图。Publication-grade figures: clustering and result plots ready for manuscripts.
03

课题设计与文章指导Study design & manuscript guidance

Research strategy & writing

从选题、研究设计到投稿,提供贴近临床真实验证情况的科研方向与方法学指导。From topic and study design to submission — research direction and methodology grounded in real-world clinical validation.

  • 选题与设计:课题方向、假设与研究设计。Topic & design: research direction, hypotheses and study design.
  • 建模方案:特征选择、集成建模与独立验证设计。Modeling plan: feature selection, ensemble modeling and independent validation design.
  • 结果解读:对标 WHO CNS5 的分类思路与判读。Interpretation: WHO CNS5-aligned classification and readout.
  • 文章指导:论文结构、图表与方法学写作。Manuscript guidance: paper structure, figures and methods writing.
技术与方法学Technology & methodology

严谨、可校准、对不确定性诚实Rigorous, calibrated and honest about uncertainty

我们的分类引擎不仅追求准确率,更强调可校准的置信度与对不确定性的诚实表达——这正是高质量甲基化分类算法的核心。Our engine optimizes not only accuracy but calibrated confidence and an honest treatment of uncertainty — the core of a high-quality methylation-classification algorithm.

104
参照甲基化分类群reference methylation classes
2 ×
检测平台:芯片 + 纳米孔platforms: array + Nanopore
84.2%
EPICv2 独立验证 · 家族级准确率family-level accuracy, independent EPICv2 validation
15K
冻结 CpG 特征面板CpG frozen feature panel
平台稳健建模Platform-robust modeling

集成分类 + 概率校准Calibrated ensemble classification

先剔除平台间系统性差异最大的 CpG,再以最近质心(平台稳健的相关系数)与随机森林双读集成,并经温度校准给出可比概率。EPICv2 严格作为独立验证集,不参与训练或调参。After removing the CpGs most affected by cross-platform bias, a nearest-centroid and random-forest dual read are ensembled and temperature-calibrated. EPICv2 is held out strictly for independent validation.

辅助证据链Ancillary evidence

CNV · MGMT · 解卷积CNV · MGMT · deconvolution

在分类之外提供拷贝数变异、MGMT-STP27 启动子甲基化状态、UMAP/t-SNE 临近群定位,以及肿瘤纯度与微环境解卷积,构成完整、可解释的证据链。Beyond classification: copy-number variation, MGMT-STP27 status, UMAP/t-SNE localization, and deconvolution of tumor purity and microenvironment — a complete, interpretable evidence chain.

可报告Reportable
score > 0.85
置信度充分,可作为甲基化分类结果报告。Confidence sufficient to report the methylation class.
仅供参考Reference only
0.60 – 0.85
提示性结果,需结合更多证据综合判读。Suggestive only; integrate with additional evidence.
不适用Not applicable
< 0.60 / OOD
置信不足或离群,明确弃判,不强行给出分类。Low confidence or out-of-distribution — abstained, no forced call.
关于我们About us

专注甲基化谱,破解神经肿瘤的分类难题Solving CNS tumor classification through the methylation profile

默赛生基因科技专注于基于 DNA 甲基化谱的肿瘤分类研究。我们整合全球公开甲基化数据集与本地临床样本,构建肿瘤甲基化表型分类模型,致力于攻克中枢神经系统(CNS)肿瘤、尤其是儿童脑肿瘤的分类难题Mosaisheng Gene Technology focuses on DNA-methylation-based tumor classification research. By integrating globally available reference datasets with locally curated clinical samples, we build methylation-phenotype classification models to tackle the classification challenges of central nervous system (CNS) tumors — pediatric brain tumors in particular.

通过整合尖端甲基化检测、前沿计算方法与深厚的神经病理专业知识,我们提供精确、可靠、可解释的肿瘤分类科研解决方案与算法模型Combining advanced methylation assays, state-of-the-art computation and deep neuropathology expertise, we deliver accurate, reliable and interpretable classification research solutions and algorithmic models.

依托与临床及科研伙伴的广泛合作,我们致力于把前沿方法学转化为可操作的科研课题合作与分类模型方案,推动神经肿瘤学研究的创新。Through extensive collaboration with clinical and research partners, we translate frontier methodology into actionable research collaborations and classification-model solutions that advance neuro-oncology research.

海德堡溯源Heidelberg lineage

方法学承袭 Heidelberg / DKFZ 神经病理甲基化分类体系,对标国际标准。Methodology rooted in the Heidelberg / DKFZ neuropathology methylation-classification ecosystem.

本地化样本Locally grounded

结合国内临床样本进行验证与校准,贴合本地科研与样本场景。Validated and calibrated with domestic clinical samples for local research settings.

可解释 · 可信Interpretable & honest

校准概率 + 三态弃判 + 离群检测,测不准即明确弃判。Calibrated probabilities, three-state abstention and out-of-distribution detection — uncertainty is reported, not hidden.

创始人Founder

深耕神经病理与甲基化分类At the intersection of neuropathology and methylation classification

侯仰昊 博士Dr. Yanghao Hou
创始人 · 公司法定代表人Founder & Legal Representative
  • 医学博士(Dr. med., Magna cum laude),德国海德堡大学神经病理科;完成神经病理亚专科实习轮转Dr. med. (Magna cum laude), Dept. of Neuropathology, Heidelberg University; completed subspecialty rotation
  • 博士师从 WHO 肿瘤分类指南编委 Andreas von Deimling 教授Doctoral training under Prof. Andreas von Deimling, a WHO tumor-classification editorial-board member
  • 重庆医科大学基础医学院病理学系 讲师;分子医学检测中心 临床病理医师、甲基化平台负责人Lecturer, Dept. of Pathology, Chongqing Medical University; clinical pathologist & methylation-platform lead, Molecular Medicine Testing Center
  • Acta Neuropathologica 第一作者;累计影响因子 > 30;重庆市英才计划 C 类First author in Acta Neuropathologica; cumulative IF > 30; Chongqing Talent Program (Class C)

从海德堡到重庆的转化之路From Heidelberg to Chongqing

侯仰昊博士在德国海德堡大学神经病理科完成医学博士训练,师从甲基化分类体系奠基人之一、WHO 肿瘤分类指南编委 Andreas von Deimling 教授,系统掌握中枢神经系统肿瘤的甲基化分型、组织学与分子诊断,并具备 R 语言甲基化数据分析(Nanopore / Illumina / NGS)能力。Dr. Hou completed his doctoral training at Heidelberg University's Department of Neuropathology under Prof. Andreas von Deimling, mastering CNS-tumor methylation classification, histology and molecular diagnostics, with R-based methylation analysis across Nanopore, Illumina and NGS.

现任重庆医科大学基础医学院病理学系讲师,并担任分子医学检测中心临床病理医师与甲基化平台负责人,持续从事中枢神经系统肿瘤甲基化谱分类与 AI 算法研究,将国际前沿方法学与本地临床样本相结合——这正是默赛生分类服务的根基。He is now a lecturer in Pathology at Chongqing Medical University and serves as clinical pathologist and methylation-platform lead at the Molecular Medicine Testing Center, continuing research on CNS-tumor methylation classification and AI algorithms that bridges international methodology with local clinical samples — the foundation of Mosaisheng's services.

学术任职Academic appointments

国家神经疾病医学中心胶质瘤 MDT 专科联盟理事 · 欧洲神经肿瘤组委会成员 · 欧洲神经病理学组会委员 · 中国微循环学会转化医学专业青年委员会委员Council member, National Glioma MDT Alliance · member, European neuro-oncology committee · member, European neuropathology working group · youth committee, Chinese Society for Microcirculation (Translational Medicine)

海德堡神经病理团队
显微镜下阅片
4000+
例脑肿瘤及疑难罕见病例诊断经验brain-tumor & rare cases reviewed
临床根基Clinical grounding

扎根临床,让科研指导更贴近真实验证Clinically grounded research guidance

创始人长期从事神经病理临床与分子诊断工作。这份一线经验让我们更理解临床端的真实需求,能为课题提供更贴近临床验证场景的科研方向与内容指导——这也是默赛生科研服务的底层支撑。The founder's ongoing work in clinical neuropathology and molecular diagnostics keeps our research services close to real clinical needs, enabling study guidance grounded in real-world validation — the foundation beneath Mosaisheng's research services.

  • 3 年德国海德堡大学神经病理学临床诊断经历,完成神经病理亚专科实习轮转3 years of neuropathology clinical-diagnostic training at Heidelberg University, with a completed subspecialty rotation
  • 累计 4000+ 例脑肿瘤及疑难罕见病例的病理与分子病理诊断经验Experience across 4,000+ brain-tumor and difficult/rare cases in pathology and molecular pathology
  • 基于甲基化谱分类与 NGS 检测结果的整合判读经验Integrated interpretation combining methylation-profile classification and NGS results
  • 师从 WHO 肿瘤分类指南编委 Andreas von Deimling 教授Trained under Prof. Andreas von Deimling, a WHO tumor-classification editorial-board member
  • 欧洲神经肿瘤组委会成员 · 欧洲神经病理学组会委员 · 国家神经疾病医学中心胶质瘤 MDT 专科联盟理事European neuro-oncology & neuropathology committee member · council member, national glioma MDT alliance

说明:本栏目仅展示创始人的临床与科研背景,用以支撑科研服务能力,不构成对外诊疗或会诊服务。Note: this section presents the founder's clinical and research background to support our research services; it is not an offer of clinical diagnosis or consultation.

开启一次甲基化科研合作Start a methylation collaboration

无论是甲基化检测、聚类与数据分析,还是课题设计与文章指导,欢迎与我们联系。Whether for methylation profiling, clustering & data analysis, or study design & manuscript guidance — we would be glad to hear from you.