The first integrated analysis of the Somatic Mosaicism across Human Tissues (SMaHT) Network’s production resource is presented, profiling up to 20 tissues from 25 donors using short- and long-read, duplex, single-cell, transcriptomic, and epigenomic sequencing, alongside donor-specific near-telomere-to-telomere assembl...
F. Sedlazeck, Tim H. H. Coorens, Peter J. Park et al.· bioRxiv· 2 citations
How spatially structured cellular ecosystems, rather than individual cell types, determine therapeutic response and resistance in lung cancer is organized around a single question - and observations that are reproducible across independent cohorts and platforms are explicitly separate from those that remain confined to...
C. Braicu, R. Pîrlog, A. Nutu et al.· Biochimica et biophysica act...· 0 citations
Single-cell RNA-sequencing resolves cellular states in exquisite detail. Yet oncogenic gene fusions, key drivers in 16.5% of malignancies and ∼50-70% of acute lymphoblastic leukaemia (ALL) cases, remain largely invisible at this resolution. This leaves a fundamental gap in understanding cancer biology. We close it with...
Jovana Maksimovic, Victoria Streeton-Cook, Calandra V. Grima et al.· bioRxiv· 0 citations
A panoramic landscape of the human hematopoietic system is established and its lifelong behaviors are elaborated, in which a steady-state reference enabled the delineation of pathological hallmarks across hematological malignancies.
Xiao-Wei Xie, Lian-Shuo Li, Fang Hong et al.· Protein & Cell· 0 citations
Small insertions and deletions (Indels) provide critical information for cancer genomics and clonal evolution, yet their detection from single-cell sequencing (SCS) such as scRNA-seq and scATAC-seq remains challenging due to sparse coverage, alignment artifacts, and RNA editing. Here, we present Monopogen-Indel, a bioi...
Zi-Yi Wang, Ken Chen, J. Dou· bioRxiv· 0 citations
Glioblastoma, IDH-wildtype, is the most common and malignant adult-type diffuse glioma. It is characterized by extensive heterogeneity and poor prognosis. Recent single-cell RNA-sequencing studies have revealed distinct transcriptional programs that define cellular states such as astrocyte-like, mesenchymal-like, neura...
Koki Ise, Zen-ichi Tanei, Takeru Kuwabara et al.· Pathology international (Pri...· 0 citations
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