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  1. Article

    Open Access

    Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS

    Gene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment. Clinical decision-making requires high confidence and precision of detection...

    Ianthe A. E. M. van Belzen, Casey Cai, Marc van Tuil, Shashi Badloe in BMC Cancer (2023)

  2. Article

    Open Access

    A systematic analysis of genetic interactions and their underlying biology in childhood cancer

    Childhood cancer is a major cause of child death in developed countries. Genetic interactions between mutated genes play an important role in cancer development. They can be detected by searching for pairs of ...

    Josephine T. Daub, Saman Amini, Denise J. E. Kersjes, **aotu Ma in Communications Biology (2021)

  3. Article

    Open Access

    Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology

    Cancer is generally characterized by acquired genomic aberrations in a broad spectrum of types and sizes, ranging from single nucleotide variants to structural variants (SVs). At least 30% of cancers have a kn...

    Ianthe A. E. M. van Belzen, Alexander Schönhuth, Patrick Kemmeren in npj Precision Oncology (2021)

  4. Article

    Open Access

    An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity

    Kidney tumours are among the most common solid tumours in children, comprising distinct subtypes differing in many aspects, including cell-of-origin, genetics, and pathology. Pre-clinical cell models capturing...

    Camilla Calandrini, Frans Schutgens, Rurika Oka in Nature Communications (2020)

  5. Article

    Open Access

    An Evaluation of Active Learning Causal Discovery Methods for Reverse-Engineering Local Causal Pathways of Gene Regulation

    Reverse-engineering of causal pathways that implicate diseases and vital cellular functions is a fundamental problem in biomedicine. Discovery of the local causal pathway of a target variable (that consists of...

    Sisi Ma, Patrick Kemmeren, Constantin F. Aliferis in Scientific Reports (2016)

  6. Article

    Open Access

    A high-resolution gene expression atlas of epistasis between gene-specific transcription factors exposes potential mechanisms for genetic interactions

    Genetic interactions, or non-additive effects between genes, play a crucial role in many cellular processes and disease. Which mechanisms underlie these genetic interactions has hardly been characterized. Unde...

    Katrin Sameith, Saman Amini, Marian J. A. Groot Koerkamp, Dik van Leenen in BMC Biology (2015)

  7. Article

    Open Access

    Yeast glucose pathways converge on the transcriptional regulation of trehalose biosynthesis

    Cellular glucose availability is crucial for the functioning of most biological processes. Our understanding of the glucose regulatory system has been greatly advanced by studying the model organism Saccharomyces...

    Eva Apweiler, Katrin Sameith, Thanasis Margaritis, Nathalie Brabers in BMC Genomics (2012)

  8. No Access

    Article

    An expression profile for diagnosis of lymph node metastases from primary head and neck squamous cell carcinomas

    Metastasis is the process by which cancers spread to distinct sites in the body. It is the principal cause of death in individuals suffering from cancer. For some types of cancer, early detection of metastasis...

    Paul Roepman, Lodewyk F A Wessels, Nienke Kettelarij, Patrick Kemmeren in Nature Genetics (2005)

  9. No Access

    Chapter

    Expression Profiler

    Expression Profiler (EP, http://ep.ebi.ac.uk/) is a set of tools for the analysis and interpretation of gene expression and other functional genomics data. These tools perform expression data clustering, visua...

    Jaak Vilo, Misha Kapushesky, Patrick Kemmeren in The Analysis of Gene Expression Data (2003)