With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

Williams–Beuren syndrome, a multisystem disorder caused by the deletion of a
chromosome region of 1.5 million to 1.8 million base pairs containing 26 to 28 genes, is a …

Extensive studies are currently being performed to associate disease susceptibility with one
form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years …

Both obesity and being underweight have been associated with increased mortality,.
Underweight, defined as a body mass index (BMI)≤ 18.5 kg per m2 in adults and≤− 2 …

Genetic variation influences gene expression, and this variation in gene expression can be
efficiently mapped to specific genomic regions and variants. Here we have used gene …

Although considerable progress has been made in understanding the genetic basis of
morphologic traits (for example, body size and coat color) in dogs and wolves, the genetic …

DNA copy number variations (CNVs) are an important component of genetic variation,
affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The …

Copy number variation (CNV) has recently gained considerable interest as a source of
genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has …

Copy number variants (CNVs) are regions of the genome that vary in integer copy number.
CNVs, which comprise both amplifications and deletions of DNA sequence, have been …