The use of clinical genome and exome sequencing for genetic diagnosis has grown substantially. This review provides guidance for clinicians seeking diagnostic confirmation of a disease suspected to ...

Whole exome sequencing in clinical genetics A health economic evaluation Exome sequencing is a relatively new technique that involves determination of the DNA sequence of the comparatively small ...

An overview of bioinformatics and where it fits into NGS workflows–including target enrichment; A walk-through of the analysis stages of Roche’s bioinformatics container solution for target-enriched ...