Population-scale single-cell RNA sequencing (scRNA-seq) is now viable, enabling finer resolution functional genomics studies and leading to a rush to adapt bulk methods and develop new single-cell-specific methods to perform these studies. Simulations are useful for developing, testing, and benchmarking methods but current scRNA-seq simulation frameworks do not simulate population-scale data with genetic effects. Here, we present splatPop, a model for flexible, reproducible, and well-documented simulation of population-scale scRNA-seq data with known expression quantitative trait loci. splatPop can also simulate complex batch, cell group, and conditional effects between individuals from different cohorts as well as genetically-driven co-expression.
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http://dx.doi.org/10.1186/s13059-021-02546-1 | DOI Listing |
J Exp Clin Cancer Res
January 2025
Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100070, China.
Background: Bone-invasive Pituitary Neuroendocrine Tumors (BI PitNETs) epitomize an aggressive subtype of pituitary tumors characterized by bone invasion, culminating in extensive skull base bone destruction and fragmentation. This infiltration poses a significant surgical risk due to potential damage to vital nerves and arteries. However, the mechanisms underlying bone invasion caused by PitNETs remain elusive, and effective interventions for PitNET-induced bone invasion are lacking in clinical practice.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Otorhinolaryngology-Head and Neck Surgery, Osaka University Graduate School of Medicine, Suita, Japan.
Integration of human papillomavirus (HPV) into the host genome drives HPV-positive head and neck squamous cell carcinoma (HPV HNSCC). Whole-genome sequencing of 51 tumors revealed intratumor heterogeneity of HPV integration, with 44% of breakpoints subclonal, and a biased distribution of integration breakpoints across the HPV genome. Four HPV physical states were identified, with at least 49% of tumors progressing without integration.
View Article and Find Full Text PDFInt Rev Cell Mol Biol
January 2025
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, United States; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, United States. Electronic address:
Acute myeloid leukemia (AML) is a complex cancer, yet advances in recent years from integrated genomics methods have helped improve diagnosis, treatment, and means of patient stratification. A recent example of a powerful, multimodal method is DOGMA-seq, which can measure chromatin accessibility, gene expression, and cell-surface protein levels from the same individual cell simultaneously. Previous bimodal single-cell techniques, such as CITE-seq (Cellular indexing of transcriptomes and epitopes), have only permitted the transcriptome and cell-surface protein expression measurement.
View Article and Find Full Text PDFPhytomedicine
January 2025
The Department of General Surgery, Zhongshan City People's Hospital, Zhongshan, Guangdong Province, 528400, China. Electronic address:
Background: The incidence of papillary thyroid carcinoma (PTC) is on the rise globally. It is frequently associated with early lymphatic metastasis, and the poor prognosis tends to be poor once metastasis or recurrence occurs, even with current treatment modalities. Kushenol O, a novel extract derived from Sophora flavescens, has shown remarkable anticancer properties.
View Article and Find Full Text PDFTransl Oncol
January 2025
Wuxi Maternal and Child Health Care Hospital, The Affiliated Women's Hospital of Jiangnan University, Wuxi 214002, PR China. Electronic address:
Background: The pathogenesis of ovarian cancer (OvCa) involves a complex interplay of genetic, environmental, and hormonal factors. With the in-depth exploration of tumor ecosystem, exosomes can mediate the immunological status of tumor microenvironment (TME). Therefore, we aimed to recognize the tumor-derived exosomes (TEXs) which can distinguish the immune-hot and cold tumors and reflect the immunotherapeutic responses.
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