Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …

There has been an academic “gold rush” with researchers mining the deep seams of whole-
exome and whole-genome sequencing since 2008. Although undoubtedly a major advance …

Technological advances have seen the offer of genome sequencing becoming part of
mainstream medical practice. Research has elicited patient and health professional views …

The completion of draft sequences of the human genome represented a remarkable
achievement for automated DNA sequencing based on Sanger technology. However, the …

The potential of genome sequencing (GS), which allows detection of almost all types of
genetic variation across nearly the entire genome of an individual, greatly expands the …

Purpose: Utilization of sequencing to screen the general population for preventable
monogenic conditions is receiving substantial attention because of its potential to decrease …

To fully appreciate genetics, one must understand the link between genotype (DNA
sequence) and phenotype (observable characteristics). Advances in high‐throughput …

The potential applications of next-generation sequencing technologies in diagnostic
laboratories have become increasingly evident despite the various technical challenges that …

The pace of the advancement of genomic sequencing over the last decade–especially
within the last 5 years–has been astounding. What initially required billions of dollars and …

Progress in Whole Genome Sequencing (WGS) will soon allow a large number of
individuals to have their genome fully sequenced. This lays the foundations to improve …