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Antonopoulos, K., Johansson, E., Kenrick, J., Dahl, L., Edfors, F., Uhlén, M. & Bueno Álvez, M. (2026). HDAnalyzeR: streamlining data analysis for biomarker research. Bioinformatics Advances, 6(1), Article ID vbag020.
Open this publication in new window or tab >>HDAnalyzeR: streamlining data analysis for biomarker research
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2026 (English)In: Bioinformatics Advances, E-ISSN 2635-0041, Vol. 6, no 1, article id vbag020Article in journal (Refereed) Published
Abstract [en]

Motivation: Exploration of large-scale biological datasets remains a central challenge in computational biology. While many tools are available, they are often developed in isolation, leading to fragmented workflows, duplicated efforts, and limited reproducibility. There is a pressing need for flexible, standardized solutions that unify exploratory data analysis and biomarker discovery across diverse platforms.

Results: We present HDAnalyzeR, a user-friendly and extensible R package for the streamlined analysis of high-dimensional biological data. HDAnalyzeR provides modular, reproducible workflows that support a range of analyses, from quality control and dimensionality reduction to differential expression and enrichment analysis. The package features built-in visualization, metadata-aware modeling, and seamless integration with interactive apps and learning resources. We also present two case studies, where HDAnalyzeR dramatically reduced analysis time and code complexity while providing biologically meaningful insights, such as classification of blood cancer types with AUC = 1.0 and identification of thousands of solid tumor-associated genes. HDAnalyzeR is designed to support both beginner users and experienced bioinformaticians, promoting transparency, reproducibility, and publication-quality output.

Availability and implementation: HDAnalyzeR is freely available both as an open-source R package at https://github.com/kantonopoulos/HDAnalyzeR and a web application at https://hdanalyzer.serve.scilifelab.se.

Place, publisher, year, edition, pages
Oxford University Press (OUP), 2026
National Category
Bioinformatics and Computational Biology Software Engineering Bioinformatics (Computational Biology)
Identifiers
urn:nbn:se:kth:diva-377879 (URN)10.1093/bioadv/vbag020 (DOI)001695984800001 ()41732669 (PubMedID)2-s2.0-105030823868 (Scopus ID)
Note

QC 20260306

Available from: 2026-03-06 Created: 2026-03-06 Last updated: 2026-04-27Bibliographically approved
Bueno Álvez, M., Bergström, S., Kenrick, J., Johansson, E., Altay, Ö., Sköld, H., . . . et al., . (2025). A human pan-disease blood atlas of the circulating proteome. Science, 390(6779), Article ID eadx2678.
Open this publication in new window or tab >>A human pan-disease blood atlas of the circulating proteome
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2025 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 390, no 6779, article id eadx2678Article in journal (Refereed) Published
Abstract [en]

The human blood proteome provides a holistic readout of health states through the assessment of thousands of circulating proteins. In this study, we present a pan-disease resource to enable the study of diverse disease phenotypes within a harmonized proteomics dataset. By profiling protein concentrations across 59 diseases and healthy cohorts, we identified proteins associated with age, sex, and body mass index, as well as disease-specific signatures. This study highlights shared and distinct protein patterns across conditions, demonstrating the power of a unified proteomics approach to uncover biological insights. The dataset, covering 8262 individuals and up to 5416 proteins, serves as an online resource for exploring disease-specific protein profiles and advancing precision medicine research.

Place, publisher, year, edition, pages
American Association for the Advancement of Science (AAAS), 2025
National Category
Medical Biotechnology (Focus on Cell Biology, (incl. Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)
Identifiers
urn:nbn:se:kth:diva-378079 (URN)10.1126/science.adx2678 (DOI)001643421200001 ()41066540 (PubMedID)2-s2.0-105025246161 (Scopus ID)
Note

QC 20260318

Available from: 2026-03-18 Created: 2026-03-18 Last updated: 2026-04-27Bibliographically approved
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Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0002-0110-5192

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