Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …

Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …

Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on
clinical gene panel testing. The contribution of variants in non-coding DNA elements that …

Abstract Copy Number Variants (CNVs) are deletions, duplications or insertions larger than
50 base pairs. They account for a large percentage of the normal genome variation and play …

Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in
children, but the genetic architecture of this rare disorder remains unknown. We performed a …

The human genome contains hundreds of low-copy repeats (LCRs) that are challenging to
analyze using short-read sequencing technologies due to extensive copy number variation …

Background Despite the availability of whole exome (WES) and genome sequencing (WGS),
chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders …

Copy number variation (CNV) is known to influence human traits, having a rich history of
research into common and rare genetic disease, and although CNV is accepted as an …