癌症基因组学与演化

研究融合转录本、肿瘤结构变异、体细胞嵌合以及癌细胞状态的发育起源。

我们将癌症视为基因组系统和发育系统,结合长读长测序、单细胞多组学和整合式调控分析,刻画肿瘤结构变异、融合转录本、克隆结构以及驱动疾病进展的细胞状态层级。

我们在长读长融合检测 (Qin et al., 2025)、基于个人组装的体细胞 SV 检测 (Qin et al., 2025) 以及以 diploid donor-specific assemblies 作为癌症参考基因组 (Zhang et al., 2025) 方面的工作,为复杂肿瘤基因组提供接近临床级别的解析能力。单细胞分析揭示了 rhabdomyosarcoma 等儿童肿瘤的发育起源 (Wei et al., 2022),并定义了与儿童肿瘤模型治疗响应和耐药相关的非遗传性转录组程序 (Yang et al., 2025)。联盟研究刻画了正常和疾病组织中的体细胞嵌合现象 (Coorens et al., 2025)。早期整合分析也研究了癌症驱动转录因子在致癌基因调控中的作用 (Xu et al., 2016)。这些方向将机制发现与转化基因组学连接起来。

参考文献

2025

  1. Genome Res
    Accurate fusion transcript identification from long- and short-read isoform sequencing at bulk or single-cell resolution
    Qian Qin, Victoria Popic, Kirsty Wienand, and 11 more authors
    Genome Research, Apr 2025
  2. bioRxiv
    Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly
    Qian Qin, Jakob Heinz, and Heng Li
    bioRxiv, Oct 2025
  3. bioRxiv
    Diploid donor-specific assembly enhances somatic structural variant detection in cancer genomes
    Yuwei Zhang, Han Qu, Qian Qin, and 2 more authors
    bioRxiv, Oct 2025
  4. Nat Commun
    The PIK3CA/AKT pathway drives therapy resistance in rhabdomyosarcoma
    Q Yang, Y Wang, L A Corchete Sanchez, and 13 more authors
    Nature Communications, Dec 2025
  5. Nature
    The Somatic Mosaicism across Human Tissues Network
    Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, and 5 more authors
    Nature, Jul 2025

2022

  1. Nat Cancer
    Single-cell analysis and functional characterization uncover the stem cell hierarchies and developmental origins of rhabdomyosarcoma
    Y Wei, Qian Qin, C Yan, and 1 more author
    Nature Cancer*Co-first authors , 2022

2016

  1. Mol Cancer Res
    Integrative Analysis Reveals the Transcriptional Collaboration between EZH2 and E2F1 in the Regulation of Cancer-Related Gene Expression
    H Xu, K Xu, H H He, and 11 more authors
    Molecular Cancer Research, 2016