Summary
Whole exome sequencing (WES) is routinely offered to patients, and WES assays optimized for the detection of variants in noncoding regions, copy number variants (CNV)s, mosaic variants, and variants in technically challenging genes have been developed. To better understand the occurrence of such variants in an unselected referral population undergoing WES, we reviewed results from over 10,000 patients tested with an optimized WES method. Approximately 27% of patients received a positive result. Of those patients who received a positive result, 5.7% were due to either a variant in a technically challenging gene (2.0%), a mosaic variant (1.0%), a known disease-associated noncoding variant (1.1%), or a CNV <4 exons in size (1.6%). Results of this study demonstrated the value of utilizing WES assays optimized to detect technically challenging variants.
Authors:
Kimberly Gall, Julie Hathaway, Alicia Scocchia, Victoria Howell, Allison Sluyters, Inka Saarinen, Tiia Kangas-Kontio, Milja Kaare, Kirsty Wells, Maria Calvo del Castillo, Mikko Muona, Tuuli Pietila, Matias Rantanen, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo