Somatic mosaicism, the occurrence of multiple genetically distinct cell clones within the
same tissue, is an evitable consequence of human aging. The hematopoietic system is no …

Inflammatory bowel disease is characterized by defects in epithelial function and
dysregulated inflammatory signaling by lamina propria mononuclear cells including …

Detecting mutations from single DNA molecules is crucial in many fields but challenging.
Next-generation sequencing (NGS) affords tremendous throughput but cannot directly …

Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Genomic medicine enables the identification of patients with rare or ultra-rare monogenic
forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients …

Background and Aims Polygenic risk scores (PRS) may soon be used to predict
inflammatory bowel disease (IBD) risk in prevention efforts. We leveraged exome-sequence …

Somatic evolution of cells within the body is well known to lead to cancers. However, spread
of somatic mutations within a tissue over time may also contribute to the pathogenesis of non …

Inflammatory bowel diseases (IBDs) are lifelong disorders in which an interaction between
genetic and environmental factors is involved. IBDs include two entities: Crohn's disease …

Liquid biopsies can be used to analyse tissue-derived information, including cell-free DNA
(cfDNA), circulating rare cells, and circulating extracellular vesicles in the blood or other …