Genetic & Rare Diseases

Find the variants that explain the phenotype

Whole-exome and targeted panel sequencing let you move from patient DNA to candidate variant list with the coverage uniformity and sensitivity that complex disease genetics demands. Twist panels are built to capture what other panels miss

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Genetic disease research stalls when capture is uneven. Getting consistent, deep coverage across clinically relevant exonic regions is what separates a confident variant call from an ambiguous one.

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.

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Create high-converting copy that drives results

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Plant trait engineering timeline

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Of plant effectors screened

Discover how massive-scale synthesis is being paired with AI-driven trait engineering to circumvent the evolutionary “arms race”, and generate crops protected from disease.

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Ready to design your genetic disease sequencing study? Talk to a Twist scientist.

Our scientific team can help you match panel selection to your cohort design, coverage requirements, and downstream analysis pipeline. Whether you need an established exome panel or a custom capture set built around your gene list, we can help you get from sample to variant call efficiently.