<![CDATA[BOL: Drawback of Exome Sequencing]]> https://bioinformaticsonline.com/news/view/11365/drawback-of-exome-sequencing? https://bioinformaticsonline.com/news/view/11365/drawback-of-exome-sequencing Mon, 02 Jun 2014 05:46:43 -0500 https://bioinformaticsonline.com/news/view/11365/drawback-of-exome-sequencing <![CDATA[Drawback of Exome Sequencing]]> 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

]]> Rahul Agarwal