July 24, 2015
The authors of an article published in Genome Biology developed a next-generation sequencing-based multiplexing assay of 13 gene panels that encompasses around 3,000 known Mendelian genes and compared it with clinical whole exome sequencing (WES). Termed the Mendeliome, the authors observe that it fared comparably with WES with an overall clinical sensitivity of 43 %. According to the authors “despite missing a significant number of cases, the current version of the Mendeliome assay can account for a large proportion of suspected genetic disorders, and provides significant practical advantages over clinical WES.” Furthermore, the authors state that the cost of these gene panels are considerably lower than WES, depending on the panel, with an exceptionally rapid turnaround time and a straightforward consenting process. The authors believe that the Mendeliome can be an effective first-tier test.