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Next-generation sequencing (NGS) has ignited a revolution in genomic medicine by eliminating the inherent limitations of conventional sequencing methods. Due to its high throughput and low-cost, clinics can use NGS to perform targeted and genome sequencing to make diagnoses or pre-screen for risk to future disease. Despite its clinical uses, many challenges exist before NGS becomes a mainstay in the clinic. There is a lack of understanding of the impact of genetic variants on health and disease and how to best apply genetic information to patient care. Nevertheless, the translation of base pair reads to clinical applications has truly begun.
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