Structural variants such as large deletions or insertions are rarely observed in the RS1 gene. Here, we report a 20-year-old male patient with X-linked retinoschisis (XLRS) carrying a novel deletion-i
Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized
aCoordinations of the human genome assembly (NCBI36/hg18).b“—” indicates no microhomology or insertion.Breakpoints and DNA sequence signatures at the junctions of 21 DMD deletions and duplications.
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation
Despite the known relevance of genomic structural variants to pathogen behavior, cancer, development, and evolution, certain repeat based structural variants may evade detection by existing high-throu
