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Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.

ABSTRACT: Research and medical genomics require comprehensive and scalable solutions to drive the discovery of novel disease targets, evolutionary drivers, and genetic markers with clinical significance. This necessitates a framework to identify all types of variants independent of their size (e.g., SNV/SV) or location (e.g., repeats). Here we present DRAGEN that utilizes novel methods based on multigenomes, hardware acceleration, and machine learning based variant detection to provide novel insights into individual genomes with ~30min computation time (from raw reads to variant detection). DRAGEN outperforms all other state-of-the-art methods in speed and accuracy across all variant types (SNV, indel, STR, SV, CNV) and further incorporates specialized methods to obtain key insights in medically relevant genes (e.g., HLA, SMN, GBA). We showcase DRAGEN across 3,202 genomes and demonstrate its scalability, accuracy, and innovations to further advance the integration of comprehensive genomics for research and medical applications.

SUBMITTER: Behera S

PROVIDER: S-EPMC10802302 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature

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Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.

Behera Sairam S Catreux Severine S Rossi Massimiliano M Truong Sean S Huang Zhuoyi Z Ruehle Michael M Visvanath Arun A Parnaby Gavin G Roddey Cooper C Onuchic Vitor V Cameron Daniel L DL English Adam A Mehtalia Shyamal S Han James J Mehio Rami R Sedlazeck Fritz J FJ

bioRxiv : the preprint server for biology 20240106

Research and medical genomics require comprehensive and scalable solutions to drive the discovery of novel disease targets, evolutionary drivers, and genetic markers with clinical significance. This necessitates a framework to identify all types of variants independent of their size (e.g., SNV/SV) or location (e.g., repeats). Here we present DRAGEN that utilizes novel methods based on multigenomes, hardware acceleration, and machine learning based variant detection to provide novel insights into ...[more]

PMID: 38260545

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Project description:BackgroundA wealth of clustering algorithms has been applied to gene co-expression experiments. These algorithms cover a broad range of approaches, from conventional techniques such as k-means and hierarchical clustering, to graphical approaches such as k-clique communities, weighted gene co-expression networks (WGCNA) and paraclique. Comparison of these methods to evaluate their relative effectiveness provides guidance to algorithm selection, development and implementation. Most prior work on comparative clustering evaluation has focused on parametric methods. Graph theoretical methods are recent additions to the tool set for the global analysis and decomposition of microarray co-expression matrices that have not generally been included in earlier methodological comparisons. In the present study, a variety of parametric and graph theoretical clustering algorithms are compared using well-characterized transcriptomic data at a genome scale from Saccharomyces cerevisiae.MethodsFor each clustering method under study, a variety of parameters were tested. Jaccard similarity was used to measure each cluster's agreement with every GO and KEGG annotation set, and the highest Jaccard score was assigned to the cluster. Clusters were grouped into small, medium, and large bins, and the Jaccard score of the top five scoring clusters in each bin were averaged and reported as the best average top 5 (BAT5) score for the particular method.ResultsClusters produced by each method were evaluated based upon the positive match to known pathways. This produces a readily interpretable ranking of the relative effectiveness of clustering on the genes. Methods were also tested to determine whether they were able to identify clusters consistent with those identified by other clustering methods.ConclusionsValidation of clusters against known gene classifications demonstrate that for this data, graph-based techniques outperform conventional clustering approaches, suggesting that further development and application of combinatorial strategies is warranted.

Project description:Ulcerative colitis (UC) is a chronic inflammatory bowel disease with an idiopathic origin, characterized by persistent mucosal inflammation. Anoikis is a programmed cell death mechanism activated during carcinogenesis to eliminate undetected isolated cells from the extracellular matrix. Although existing evidence indicates that anoikis contributes to the modulation of immune response, the involvement of anoikis-related genes (ARGs) in UC pathogenesis and their interaction with infiltrating immune cells has not been thoroughly explored. The GSE75214, GSE92415, and GSE16879 datasets were acquired and integrated from the GEO database. Additionally, 58 ARGs were identified through the GSEA database. Key anoikis-DEGs in UC were identified using three machine learning algorithms, including least absolute shrinkage and selection operator (LASSO) Cox regression, random forest (RF), and support vector machine (SVM). Receiver operating characteristic (ROC) analysis was utilized to evaluate the diagnostic accuracy of each gene. Subsequently, Single sample GSEA (ssGSEA) was executed to explore the relationships within immune cell infiltration, UC subtypes, and key anoikis-DEGs. Besides, unsupervised cluster analysis was conducted to categorize the UC samples into distinct subgroups, followed by comparing subtype differences. Finally, the upstream regulatory network was constructed and visualized. A comprehensive analysis of the involvement of ARGs in UC was performed, revealing their expression profile, correlation with infiltrating immune cells, and enrichment analyses. We identified five key anoikis-DEGs (PDK4, CEACAM6, CFB, CX3CL1, and HLA-DMA) and demonstrated their high diagnostic accuracy for UC. Moreover, CEACAM6, CFB, CX3CL1, and HLA-DMA exhibited positive associations with infiltrating immune cells in UC, whereas PDK4 displayed a negative correlation with all immune cells. Unsupervised cluster analysis enabled the classification of UC patients into two clusters, both of which exhibited distinct gene expression profiles and immune signaling pathways. Further, based upon the upstream regulatory network, TP53, RARB, RXRB, and CTCF potentially exerted regulatory functions. Our analysis identified five key anoikis-DEGs as characteristic biomarkers of UC. These genes were strongly associated with the infiltration of both innate and adaptive immune cells, as well as immune pathways. This study highlights the role of anoikis genes in UC pathophysiology and offers valuable insights for further elucidating UC pathogenesis and individualized therapy.

Dataset Information

Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.

Publications

Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.

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