This interactive technote provides comparison data of Twist's Exome 2.0 panels against 4 commercially available panels offered by other vendors. Twist offers two panels, Twist Exome 2.0 and Twist Exome 2.0 Plus Comprehensive Exome Spike-in*.

Both panels encompass all genes with an emphasis to include clinically-relevant variants in both exonic and non-coding regions, all curated from the most up to date major genetic databases, including CCDS, Gencode, RefSeq, ClinVar, and ACMG. They enable the identification of variants in known subsets of genes, clinically relevant variants genome-wide, and the understanding of novel phenotypes. The panels have high coverage uniformity, reduced GC rich regions drop outs, and on-target rates, and reach the highest specificity resulting in greater depth of coverage that can help reduce costs per sample by minimizing unnecessary sequencing and provide higher confidence in variant calling. In addition, the Twist Exome 2.0 plus Comprehensive Exome Spike-in panel contains additional exome targets that are omitted in the curated Exome 2.0 as an option to researchers.

To reduce bias, all experiments were performed by a third-party vendor using Coriell NA12878 genomic DNA. Enriched samples from each panel were sequenced on NovaSeq 6000 to generate PE100 reads and then subsampled/normalized to 60 million reads per sample. Data processing and alignment are identical across samples and follow current best–practices. Three representative datasets are shown for each panel.

*The Twist Exome 2.0 Plus Comprehensive Exome Spike-in includes all the Twist Exome 2.0 content and additional regions from the Twist Comprehensive Exome.