Drawback of Exome Sequencing
By Rahul Agarwal 3609 days ago
Dr Eric Londin, Assistant Professor, Thomas Jefferson University, USA, stated that analysis of 44 exome datasets from four different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes. "At least one gene in each exome method was missing more than 40 percent of disease-causing genetic variants, and we found that the worst-performing method missed more than 90 percent of such variants in four of the 56 genes," he says.
Source: http://www.eurekalert.org/pub_releases/2014-05/esoh-pco052914.php
