Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

With the release of the telomere-to-telomere human genome sequence and the availability
of both long-read sequencing and optical genome mapping techniques, the identification of …

In recent years, next-generation high-throughput sequencing technology has been widely
used in clinical practice for the identification and diagnosis of Mendelian diseases as an …

Background Chromosome 13q deletion syndrome shows variable clinical features related to
the different potential breakpoints in chromosome 13q. The severely malformed phenotype …

Cancers routinely exhibit chromosomal instability, resulting in the accumulation of changes
in the abundance of genomic material, known as copy number variants (CNVs) …

Genome sequencing has transformed our understanding of human genetic diseases in
recent years, not least of which is Cancer. Among the genetic abnormalities commonly …

Introduction Cancers routinely exhibit chromosomal instability that results in copy number
variants (CNVs), namely changes in the abundance of genomic material. Unfortunately, the …