GeneticsProceedings of the National Academy of SciencesPeer-reviewed
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Aziz Belkadi, Alexandre Bolze, Yuval Itan…·Laurent Abel
This study compares whole-genome sequencing (WGS) and whole-exome sequencing (WES) in six individuals, finding WGS more effective at detecting coding variants, particularly SNVs, with fewer false positives.
DOI 10.1073/pnas.1418631112