From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …

Since the development of technologies that can determine the base-pair sequence of DNA,
the ability to sequence genes has contributed much to science and medicine. However, it …

Background Multiple genes have been implicated by association studies in altering
inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more …

Recently, with the advancement in next generation sequencing (NGS) along with the
improvement of bioinformatics tools, whole exome sequencing (WES) has become the most …

Background Overgrowth conditions are a heterogeneous group of disorders characterised
by increased growth and variable features, including macrocephaly, distinctive facial …

Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not
only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to …

The etiology of non‐syndromic oral clefts (NSOFC) is complex with genetics, genomics,
epigenetics, and stochastics factors playing a role. Several approaches have been applied …

Many laboratories now use genomic microarrays as their first-tier diagnostic test for copy
number variation (CNV) detection. In addition, whole exome sequencing is increasingly …

Next-generation sequencing has catapulted healthcare into a revolutionary genomics era.
One such technology, whole-exome sequencing, which targets the protein-coding regions of …

Background Whole-exome sequencing (WES) consists in the capture, sequencing and
analysis of all exons in the human genome. Originally developed in the research context …