Next generation sequencing (NGS) has made exome and targeted panel sequencing the standard entry point for discovering the genetic basis of inherited conditions. But raw read depth alone does not distinguish disease-causing variants from sequencing noise.

The Twist Comprehensive Exome 2.0 Panel was designed around the practical demands of genetic disease research: high on-target rates, uniform coverage across GC-rich and repetitive regions, and broad gene content spanning coding sequences, untranslated regions (UTRs), and clinically curated non-coding elements. 

For labs running cohort-scale discovery or requiring deep coverage of established disease gene sets, the Twist Human Core Exome Plus Panel gives you a refined target space without sacrificing the sensitivity needed to detect rare heterozygous variants. [CITATION-NEEDED: verify Core Exome Plus coverage statistics]

When your study requires a gene list tailored to a specific phenotype, pathway, or patient population, Twist Custom Panels let you define the target space precisely, whether that means 50 genes or 5,000.