Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Conclusion
Combining single-nucleotide variant (SNV) and CNV detection increases the suitability of exome sequencing as a first-tier diagnostic test for suspected rare Mendelian disorders. Before considering the prescription of a WGS after a negative WES, a careful reanalysis with updated CNV calling and SNV annotation should be considered.

Source: Journal of Medical Genetics - November 22, 2022 Category: Genetics & Stem Cells Authors: Testard, Q., Vanhoye, X., Yauy, K., Naud, M.-E., Vieville, G., Rousseau, F., Dauriat, B., Marquet, V., Bourthoumieu, S., Genevieve, D., Gatinois, V., Wells, C., Willems, M., Coubes, C., Pinson, L., Dard, R., Tessier, A., Herve, B., Vialard, F., Harzallah, Tags: Copy-number variation Source Type: research