Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

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 …

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …

The extent to which large duplications and deletions contribute to human genetic variation
and diversity is unknown. Here, we show that large-scale copy number polymorphisms …

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 …

An increasing number of human diseases are recognized to result from recurrent DNA
rearrangements involving unstable genomic regions. These are termed genomic disorders …

Background Whole-genome sequencing may revolutionize medical diagnostics through
rapid identification of alleles that cause disease. However, even in cases with simple …

Although the potential for genomics to contribute to clinical care has long been anticipated,
the pace of defining the risks and benefits of incorporating genomic findings into medical …

Summary Charcot–Marie–Tooth disease is the most common inherited neuromuscular
disorder. There have been substantial advances in elucidating the molecular bases of this …