Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The
majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal …

Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

The formation and accumulation of methylglyoxal (MGO), a highly reactive dicarbonyl
compound, has been implicated in the pathogenesis of type 2 diabetes, vascular …

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

Structural genomic variants (SVs) are ubiquitous and play a major role in adaptation and
speciation. Yet, comparative and population genomics have focused predominantly on gene …

Background: The cytochrome P450 (CYP) enzymes are membrane-bound hemoproteins
that play a pivotal role in the detoxification of xenobiotics, cellular metabolism and …

Understanding the genetic changes underlying phenotypic variation in sheep (Ovis aries)
may facilitate our efforts towards further improvement. Here, we report the deep …

Background Cancer is a heterogeneous disease with many genetic variations. Lines of
evidence have shown copy number variations (CNVs) of certain genes are involved in …

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 …

Motivation Structural variants are defined as genomic variants larger than 50 bp. They have
been shown to affect more bases in any given genome than single-nucleotide …