SUMMARY: Lack of data integration remains a significant impediment to cancer research, and many analyses still require customized software to transform and prepare cancer data. We describe a software package to harmonize genetic and clinical cancer data into the GA4GH Phenopacket schema, an ISO standard for representing clinical case data. We integrated demographic, mutation, morphology, diagnosis, intervention, and survival data using case data from the National Cancer Institute for 12 cancer types. The Phenopacket standard provides a foundation for downstream use, including sophisticated statistical and AI/ML analyses. We demonstrate fitness for purpose by using the integrated data to recapitulate a known association between mutations in the gene encoding isocitrate dehydrogenase 1 and survival time in brain cancer patients. AVAILABILITY AND IMPLEMENTATION: Source code is freely available at: https://github.com/monarch-initiative/oncopacket (archived at 10.5281/zenodo.15353125).

MOTIVATION: High-quality imaging analyses have been proposed to drive innovation in biomedical and biological research. However, the application of images remains underexploited because of the limited capacity of human vision and the challenges in extracting quantitative information from images. Computationally extracting quantitative information from images is critical to overcoming this limitation. Here, we present a novel R package, i2d, to simulate data from an image based on digital convolution. RESULTS: The R package i2d allows users to transform an image into a simulated dataset that can be used to extract and analyze complex information in biomedical and biological research. The package also includes three novel and efficient methods for graph clustering based on simulated data, which can be used to dissect complex gene networks into sub-clusters that have similar biological functions. AVAILABILITY AND IMPLEMENTATION: The code, the documentation, a tutorial and example data are available on an open source at: github.com/XiaoyuLiang/i2d. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

BACKGROUND: Next-generation sequencing platforms allow us to sequence millions of small fragments of DNA simultaneously, revolutionizing cancer research. Sequence analysis has revealed that cancer driver genes operate across multiple intricate pathways and networks with mutations often occurring in a mutually exclusive pattern. Currently, low-frequency mutations are understudied as cancer-relevant genes, especially in the context of networks. RESULTS: Here we describe a tool, gcMECM, that enables us to visualize the functionality of mutually exclusive genes in the subnetworks derived from mutation associations, gene-gene interactions, and graph clustering. These subnetworks have revealed crucial biological components in the canonical pathway, especially those mutated at low frequency. Examining the subnetwork, and not just the impact of a single gene, significantly increases the statistical power of clinical analysis and enables us to build models to better predict how and why cancer develops. CONCLUSIONS: gcMECM uses a computationally efficient and scalable algorithm to identify subnetworks in a canonical pathway with mutually exclusive mutation patterns and distinct biological functions.

SUMMARY: Bambino is a variant detector and graphical alignment viewer for next-generation sequencing data in the SAM/BAM format, which is capable of pooling data from multiple source files. The variant detector takes advantage of SAM-specific annotations, and produces detailed output suitable for genotyping and identification of somatic mutations. The assembly viewer can display reads in the context of either a user-provided or automatically generated reference sequence, retrieve genome annotation features from a UCSC genome annotation database, display histograms of non-reference allele frequencies, and predict protein-coding changes caused by SNPs. AVAILABILITY: Bambino is written in platform-independent Java and available from https://cgwb.nci.nih.gov/goldenPath/bamview/documentation/index.html, along with documentation and example data. Bambino may be launched online via Java Web Start or downloaded and run locally.