SUMMARY: Complex chromosomal rearrangements in tumors involve intricate genomic alterations that significantly affect gene function and contribute to cancer development. Identifying these events is crucial for cancer research but is often challenging due to the complexity and limitations of existing tools. We developed the Complex Chromosomal Rearrangements Resolver (CCRR), a comprehensive, reproducible, and user-friendly platform for analyzing complex rearrangements in tumors. CCRR integrates multiple SV and CNV detection tools within a Docker container environment, simplifying installation and configuration. It can be easily deployed, automating the execution and merging of results, providing high-confidence consensus SV and CNV calls, allowing researchers to efficiently analyze complex chromosomal rearrangements in tumors without extensive bioinformatics expertise. CCRR also includes a web server for one-click analysis and customized visualization. AVAILABILITY AND IMPLEMENTATION: The CCRR platform is freely available at https://www.ccrr.life. Source code and executables can be accessed at https://github.com/laslk/CCRR. An archived version is available at Zenodo: https://doi.org/10.5281/zenodo.15386513.

Network embedding, a graph representation learning method illustrating network topology by mapping nodes into lower-dimension vectors, is challenging to accommodate the ever-changing dynamic graphs in practice. Existing research is mainly based on node-by-node embedding modifications, which falls into the dilemma of efficient calculation and accuracy. Observing that the embedding dimensions are usually much smaller than the number of nodes, we break this dilemma with a novel dynamic network embedding paradigm that rotates and scales the axes of embedding space instead of a node-by-node update. Specifically, we propose the Dynamic Adjacency Matrix Factorization (DAMF) algorithm, which achieves an efficient and accurate dynamic network embedding by rotating and scaling the coordinate system where the network embedding resides with no more than the number of edge modifications changes of node embeddings. Moreover, a dynamic Personalized PageRank is applied to the obtained network embeddings to enhance node embeddings and capture higher-order neighbor information dynamically. Experiments of node classification, link prediction, and graph reconstruction on different-sized dynamic graphs suggest that DAMF advances dynamic network embedding. Further, we unprecedentedly expand dynamic network embedding experiments to billion-edge graphs, where DAMF updates billion-level parameters in less than 10ms.

Single-cell sequencing has shed light on previously inaccessible biological questions from different fields of research, including organism development, immune function, and disease progression. The number of single-cell-based studies increased dramatically over the past decade. Several new methods and tools have been continuously developed, making it extremely tricky to navigate this research landscape and develop an up-to-date workflow to analyze single-cell sequencing data, particularly for researchers seeking to enter this field without computational experience. Moreover, choosing appropriate tools and optimal parameters to meet the demands of researchers represents a major challenge in processing single-cell sequencing data. However, a specific resource for easy access to detailed information on single-cell sequencing methods and data processing pipelines is still lacking. In the present study, an online resource called SingleScan was developed to curate all up-to-date single-cell transcriptome/genome analyzing tools and pipelines. All the available tools were categorized according to their main tasks, and several typical workflows for single-cell data analysis were summarized. In addition, spatial transcriptomics, which is a breakthrough molecular analysis method that enables researchers to measure all gene activity in tissue samples and map the site of activity, was included along with a portion of single-cell and spatial analysis solutions. For each processing step, the available tools and specific parameters used in published articles are provided and how these parameters affect the results is shown in the resource. All information used in the resource was manually extracted from related literature. An interactive website was designed for data retrieval, visualization, and download. By analyzing the included tools and literature, users can gain insights into the trends of single-cell studies and easily grasp the specific usage of a specific tool. SingleScan will facilitate the analysis of single-cell sequencing data and promote the development of new tools to meet the growing and diverse needs of the research community. The SingleScan database is publicly accessible via the website at http://cailab.labshare.cn/SingleScan .

Anomaly detection in graphs has attracted considerable interests in both academia and industry due to its wide applications in numerous domains ranging from finance to biology. Meanwhile, graph neural networks (GNNs) is emerging as a powerful tool for modeling graph data. A natural and fundamental question that arises here is: can abnormality be detected by graph neural networks? In this paper, we aim to answer this question, which is nontrivial. As many existing works have explored, graph neural networks can be seen as filters for graph signals, with the favor of low frequency in graphs. In other words, GNN will smooth the signals of adjacent nodes. However, abnormality in a graph intuitively has the characteristic that it tends to be dissimilar to its neighbors, which are mostly normal samples. It thereby conflicts with the general assumption with traditional GNNs. To solve this, we propose a novel Adaptive Multi-frequency Graph Neural Network (AMNet), aiming to capture both low-frequency and high-frequency signals, and adaptively combine signals of different frequencies. Experimental results on real-world datasets demonstrate that our model achieves a significant improvement comparing with several state-of-the-art baseline methods.

UNLABELLED: Chromothripsis is a single catastrophic event that can lead to massive genomic rearrangements confined to one or a few chromosomes. It provides an alternative paradigm in cancer development and changes the conventional view that cancer develops in a stepwise progression. The mechanisms underlying chromothripsis and their specific impact on tumorigenesis are still poorly understood, and further examination of a large number of identified chromothripsis samples is needed. Unfortunately, this data are difficult to access, as they are scattered across multiple publications, come in different formats and descriptions, or are hidden in figures and supplementary materials. To improve access to this data and promote meta-analysis, we developed ChromothripsisDB, a manually curated database containing a unified description of all published chromothripsis cases and relevant genomic aberrations. Currently, 423 chromothripsis samples representing 107 research articles are included in our database. ChromothripsisDB represents an extraordinary resource for mining the existing knowledge of chromothripsis, and will facilitate the identification of mechanisms involved in this phenomenon. AVAILABILITY AND IMPLEMENTATION: ChromothripsisDB is freely available at http://cgma.scu.edu.cn/ChromothripsisDB CONTACT: [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.