Exome 2.0 Flashcards
(31 cards)
What is the size of the Twist Exome 2.0 target region?
36.4 Mb
Which sequencing instrument is Twist Exome 2.0 optimized for?
MiSeq- Illumina
What is the primary benefit of using Twist Exome 2.0 according to the document?
Best-in-class performance and thoughtfully curated content
What is the key message of the Twist Exome portfolio?
Exceptional performance and flexibility with NGS quality-controlled probes
What is the primary benefit of the Twist Exome 2.0?
Best-in-class performance and thoughtfully curated content, including major gene sets (e.g. RefSeq, GENCODE, ClinVar, ACMG73).
What is the Twist Exome 2.0 panel?
A next-generation exome sequencing panel targeting ~36.4 Mb of human protein-coding regions with high performance, excellent coverage, and thoughtfully curated content.
What is the size of the Twist Exome 2.0 target region?
Approximately 36.4 Mb.
What makes Twist’s probe design stand out?
Twist uses double-stranded, NGS-quality-controlled DNA probes with superior uniformity, low duplication rates, and minimal off-target reads.
Which sequencing platform is Twist Exome 2.0 optimized for?
Illumina platforms, particularly NovaSeq, for high-throughput performance.
How does Twist Exome 2.0 reduce sequencing costs?
With high uniformity and efficient capture, users can sequence fewer reads while achieving the same or better coverage compared to competitors.
What clinical or research applications is this panel best suited for?
Rare disease discovery, inherited disorders, germline cancer research, and comprehensive exome-based clinical research.
What databases and genes does the panel cover?
RefSeq, CCDS, GENCODE, ClinVar, ACMG73, and additional clinically relevant pathogenic variants.
How does Twist compare to IDT and Agilent?
Twist offers higher uniformity, better on-target rates, and more customizable content at competitive pricing.
What is a key differentiator in messaging versus IDT?
Emphasize Twist’s performance-first design and NGS-verified probe quality, versus IDT’s focus on customization.
What is the panel size and target coverage?
Twist Exome 2.0 targets approximately 36.4 Mb of the human genome, covering 99.7% of protein-coding regions with high uniformity.
What’s the average on-target rate?
> 85% on-target rate, reducing the amount of wasted sequencing and improving data quality.
What’s the recommended sequencing depth?
Typically 50–100× coverage, depending on the application (e.g., germline vs rare disease vs clinical research).
What is the average coverage uniformity (% bases >0.2× mean)?
> 90% uniformity, enabling deeper coverage with fewer reads and more consistent variant calling.
Which reference genome is the panel designed against?
GRCh38 (hg38) — with annotations and compatibility for both hg19 and hg38 reference alignments.
What enrichment method is used?
Hybrid capture using biotinylated DNA probes — not RNA — which improves stability, uniformity, and reduces biases.
Can the panel be customized?
Yes. You can easily add or swap gene content to match project-specific needs using Twist’s custom content integration service.
Is it compatible with automation or high-throughput workflows?
Yes. Twist offers automation-friendly protocols and pre-aliquoted kits for use with liquid handlers and high-throughput setups (e.g. NovaSeq 6000 workflows).
What is the probe type and length?
Twist uses double-stranded, 120bp. These are more stable and uniform than single-stranded or RNA-based competitors.
What sequencing platforms are supported?
Illumina platforms (e.g. NovaSeq, NextSeq, HiSeq, MiSeq). Ion Torrent and PacBio are not officially supported.
