Autophagy is a fundamental eukaryotic pathway that has multiple effects on immunity.
Autophagy is induced by pattern recognition receptors and, through autophagic adaptors, it …

Type 2 diabetes (T2D) is a complex disease that is caused by a complex interplay between
genetic, epigenetic and environmental factors. While the major environmental factors, diet …

Typical genoty** workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Structural variants (SVs) are an important source of human genetic diversity, but their
contribution to traits, disease and gene regulation remains unclear. We mapped cis …

It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …

Background Obesity is associated with vitamin D deficiency, and both are areas of active
public health concern. We explored the causality and direction of the relationship between …

Increased male prevalence has been repeatedly reported in several neurodevelopmental
disorders (NDs), leading to the concept of a" female protective model." We investigated the …

Abstract The 1000 Genomes Project aims to provide a deep characterisation of human
genome sequence variation as a foundation for investigating the relationship between …