![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
Open AccessSystematic 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...
-
Article
Open AccessA 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 ...
-
Article
Open AccessStructural 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...
-
Article
Open AccessAn 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...
-
Article
Open AccessAn 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...
-
Article
Open AccessA 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...
-
Article
Open AccessYeast 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...
-
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...
-
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...