Human Core Exome Kit y Human Core Exome + RefSeq Kit

Twist Human Core Exome and Twist Human Core Exome + Ref Seq are the two capture solutions for human exome sequencing by Twist Bioscience.

The superior performance of the Twist Core Exome provides the optimal solution for sequencing human coding genes, while focusing on the most accurate curated subset of genes: that of the CCDS database. In addition, Twist offers the Human Core Exome + RefSeq option, which expands the content of the Twist Human Core Exome to provide coverage of greater than 99% of protein coding genes. The sequences covered have been selected from several updated databases (CCDS, RefSeq and GENCODE) to ensure complete and up-to-date content.

The Human Core Exome offers the potential to reduce sequencing costs of the Human Core Exome + RefSeq option by increasing the samples that can be sequenced in each run, and achieving a higher read depth with uncompromising data quality.

Key aspects:

• High coverage: 99% of ClinVar variants covered with the Human Core Exome, and more than 99% of protein coding genes covered by adding the Human Ref Seq Panel
• High design efficiency: 33Mb of the CCDS database covered with the Human Core Exome, and up to 36.8 coding Mb (with a design size of only 41.2 Mb), by adding the Human Ref Seq Panel
• Flexibility: easy incorporation of additional content to the core exome panel (e.g. Ref Seq Panel)
• Sequencing of 99.3% of regions at a minimum depth of 20x, sequencing 5.3 Gb of data/sample (Human Core Exome)
• High-fidelity double-stranded DNA probes providing exceptional performance
• Quality control of all probes
• Uniform enrichment of target regions and low duplicate read rate (always less than 10%), allowing to reduce sequencing cost by increasing the number of samples/run
• Compatible with different types of samples (DNA from whole blood, blood on paper, saliva, FFPE)
• Automatable protocol

The kits include the reagents for the preparation of individual libraries: by mechanical fragmentation or by enzymatic fragmentation, using Unique Dual Indices or Combinatory Dual Indices; and the reagents necessary for the enrichment of the regions of interest, by Standard or Fast hybridization, offering flexibility to the users, but without compromising the quality of the data.

The libraries obtained are compatible with Illumina's NGS platforms.

Customization

The content of the Twist Human Core Exome can be easily expanded with the Twist Custom Blended Panels option.