Most common human traits and diseases have a polygenic pattern of inheritance: DNA
sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA…

Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain
largely elusive. To identify genetic loci for obesity susceptibility, we examined associations …

Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic
consequences independent of overall adiposity. WHR is heritable, but few genetic variants …

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered 1 . …

Monogenic causes of autoimmunity provide key insights into the complex regulation of the
immune system. We report a new monogenic cause of autoimmunity resulting from de novo …

Background Traditional genetic testing focusses on analysis of one or a few genes according
to clinical features; this approach is changing as improved sequencing methods enable …

Understanding the regulation of pancreatic development is key for efforts to develop new
regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can …

The contribution of cis-regulatory mutations to human disease remains poorly understood.
Whole-genome sequencing can identify all noncoding variants, yet the discrimination of …

Background The genetic cause of primary immunodeficiency disease (PID) carries prognostic
information. Objective We conducted a whole-genome sequencing study assessing a …

IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted
in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R. We …