Comprehensive Variant Analysis in Clinical Samples by Cost-Effective Whole Genome Sequencing

We present the performance of the low-cost Ultima Genomics UG100 platform on a selected cohort of clinical samples aimed at representing common pathogenic clinical variants. The dataset included 61 samples with annotated pathogenic variants, comprising of 18 cell-lines with clinical annotation and 45 patient saliva samples. The samples had 70 pathogenic clinical variations annotations that were either short variants (32), CNVs (19), other SVs (5), or STR expansions (14). Our findings offer valuable insights into the UG100 platform's efficacy and reliability in detecting a diverse array of pathogenic variants, paving the way for its potential utility in clinical settings.