The usefulness of whole-exome sequencing in routine clinical practice

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

“…3 Reaching a diagnosis results in an end to the expensive, time-consuming, and potentially invasive diagnostic odyssey that poses a heavy burden both for families and the health-care system. [30][31][32] The high diagnostic rate of DES, the implication for patient care after a diagnosis, and the clear cost savings make exome sequencing well suited to become the standard of care in diagnostic medicine.…”

Genetics and Genetic Testing in Congenital Heart Disease

“…One of the biggest benefits of this technology has been its scalability -both to large-scale whole genome/exome analyses and to smaller gene-specific targeted studies. This flexibility has initiated a paradigm shift towards adoption of NGS in both clinical and research settings and has, even in its relative infancy, greatly benefited novel disease gene discovery and patient diagnosis [72][73][74][75][76] .…”

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

“…15,[17][18][19][20][21][22] Several recent studies have highlighted the usefulness of DES in clinical pediatric neurology practice, emphasizing a high diagnostic rate and impact on genetic counseling and patient management. 8,9,23 Data from small cohorts of patients with severe epilepsies also highlight the utility of DES for improving molecular diagnoses. [24][25][26] However, these studies rely on data from small, highly selected patient cohorts and may not reflect the diagnostic yield in an unselected sample of patients with epilepsy.…”