2014 AMP: The ACE Clinical Exome: An Augmented Exome Providing Accurate Structural Variant Detection

Whole-Exome Sequencing (WES) has become a valuable tool in identifying common and rare disease-causing variants due to its broad coverage and high-resolution. However, copy number variations (CNVs), a form of structural variation (SV) that leads to abnormal copies of genomic regions, are not reliably detected using standard WES approaches. Limitations of standard WES lead to high false-negative rates.