Single-cell atlases promise to provide a 'missing link'between genes, diseases and
therapies. By identifying the specific cell types, states, programs and contexts where disease …

Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …

Owing to advances in genomics that enable differentiation of molecular aetiologies, patients
with monogenic inflammatory bowel disease (mIBD) potentially have access to genotype …

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 …

Recent advances in our understanding of the pathogenesis of inflammatory bowel disease
(IBD) have highlighted the complex interplay between the genome, the epigenome, and the …

The number of studies investigating the human gastrointestinal tract using various single-
cell profiling methods has increased substantially in the past few years. Although this …

In genomic medicine, the concept of genetically transitional disease (GTD) refers to cases in
which gene mutation is necessary but not sufficient to cause disease. In this Perspective, we …

There is great heterogeneity among inflammatory bowel disease (IBD) patients in terms of
pathogenesis, clinical manifestation, response to treatment, and prognosis, which requires …

Paediatric-onset inflammatory bowel disease (IBD) is a complex and heterogenous
condition. Incidence of disease in those aged< 18 years has doubled over the last 25 years …

Studies of Crohn's disease have consistently implicated NOD2 as the most important gene
in disease pathogenesis since first being identified in 2001. Thereafter, genome-wide …