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

Asthma and allergy are common conditions with complex etiologies involving both genetic
and environmental contributions. Recent genome‐wide association studies (GWAS) and …

Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …

Comprehensive identification and cataloging of copy number variations (CNVs) is required
to provide a complete view of human genetic variation. The resolution of CNV detection in …

The human leukocyte antigen (HLA) super-locus is a genomic region in the chromosomal
position 6p21 that encodes the six classical transplantation HLA genes and at least 132 …

Chromosome structural changes with nonrecurrent endpoints associated with genomic
disorders offer windows into the mechanism of origin of copy number variation (CNV). A …

Genetic variation among individual humans occurs on many different scales, ranging from
gross alterations in the human karyotype to single nucleotide changes. Here we explore …

Array-based technologies have been used to detect chromosomal copy number changes
(aneuploidies) in the human genome. Recent studies identified numerous copy number …

Genome-wide patterns of variation across individuals provide a powerful source of data for
uncovering the history of migration, range expansion, and adaptation of the human species …

In the last several years, a number of studies have described large-scale structural variation
in several genomes. Traditionally, such methods have used whole-genome array …