Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular Diagnostics

The usefulness of whole-exome sequencing in routine clinical practice

“…This level of yield is similar to or slightly higher than those of previous reports, either in research studies 1,[5][6][7] or clinical series reported by clinical laboratories.…”

Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy Debate

“…For example, for many genomic funding agencies and some researchers, adopting WGS into routine clinical care is an explicit aspiration. Indeed, WGS has been called a revolutionizing diagnostic tool [5],[6] that will have a profound impact on the practice of medicine [7]. While inexpensive and efficient, WGS is an impressive technological achievement, with the potential to serve as the foundation for new approaches to screening, diagnosis, risk prediction, and prognostic platforms in clinical practice; the actual impact it will have on health and health care systems is far from certain.…”

Bioinformatics for Clinical Next Generation Sequencing

“…2 use of high-depth sequencing is particularly powerful in panel-based approaches in which the query region is small and great depths can be attained. In comparison, exome-and genome-sequencing efforts are complicated by the increased target region size and issues such as variable capture or sequencing efficiency, which collectively introduce regions of insufficient sequence depth and increase validation burden (27 ). Repetitive genomic re- gions and pseudogenes introduce alignment ambiguities due to the relatively short read lengths generated by most NGS technologies, and this represents another source of error (28 ).…”