Background: Clinical genetic laboratories often require comprehensive analysis of
chromosomal rearrangements/structural variants (SVs) which can range from gross …

Background Clinical genetic laboratories often require comprehensive analysis of
chromosomal rearrangements/structural variants (SVs) which can range from gross …

Large genomic structural variants (> 50bp) are important contributors to disease, yet they
remain one of the most difficult types of variation to accurately ascertain, in part because …

Structural variants (SVs) alter the structure of chromosomes by deleting, duplicating or
otherwise rearranging pieces of DNA. They contribute the majority of nucleotide differences …

The contribution of balanced chromosomal rearrangements to complex disorders remains
unclear because they are not detected routinely by genome-wide microarrays and clinical …

Genomes are becoming recognized as dynamic molecules which modify their structures,
mediated through epigenetic mechanisms, in response to intrinsic and extrinsic stimulants …

Complex genomic rearrangements (CGRs) are known contributors to disease but are often
missed during routine genetic screening. Identifying CGRs requires (i) identifying copy …

From karyotyping to sequencing, the development and improvement of technologies that
allow to study the human genome at greater resolution have revealed the extent to which it …

SWaveform, a newly created open genome-wide resource for read depth signal in the
vicinity of structural variant (SV) breakpoints, aims to boost development of computational …

Background With applications in cancer, drug metabolism, and disease etiology,
understanding structural variation in the human genome is critical in advancing the thrusts of …