During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

The first wave of information from the analysis of the human genome revealed SNPs to be
the main source of genetic and phenotypic human variation. However, the advent of genome …

The near completeness of human chromosome sequences is facilitating accurate
characterization and assessment of all classes of genomic variation. Particularly, using the …

The association of DNA copy-number variation (CNV) with specific gene function and
human disease has been long known, but the wide scope and prevalence of this form of …

Inter-individual genomic variations have recently become evident with advances in
sequencing techniques and genome-wide array comparative genomic hybridization. Among …

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

Appreciating the contribution of human genome copy-number variation (CNV) to clinical
phenotypes is one of the compelling genetics challenges of the coming years. It is …

DNA copy number variation has long been associated with specific chromosomal
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …

Whereas single-nucleotide polymorphisms and their role in predisposition to disease have
been studied extensively, the analysis of structural variants—genomic changes such as …

Two developments have sparked new directions in the genetics-to-genomics transition for
research and medical applications: the advance of whole-genome assays by array or DNA …