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Introducing Whole Exome Sequencing: Featuring Celemics’ WES Panel

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What is exome?

 

The exome refers to the complete set of protein-coding regions in the human genome. Exome accounts for only 1.5% of the human genome, while the remaining regions are composed of various types of non-coding DNA, such as transposons, repeats, and other elements. Some non-coding DNA regions are known to have important biological functions, such as generating noncoding RNA or regulating gene expression, yet many areas of non-coding DNA still have unclear roles. However, despite its small composition, exome is the most well-characterized region in terms of their functions by extensive studies and therefore known to be the most informative region of the genome as it contains the vast majority of known disease-associated mutations

WES_Panel_CELEMICS_Protein-coding-genes-pie chart

The most comprehensive approach in genomics research is whole genome sequencing (WGS). However, due to the large size of the target region, both the sequencing and analysis costs are significantly high. Whole exome sequencing (WES) focuses only on the protein-coding regions and known regulatory regions of genome. Since the size of the target for whole exome is much smaller compared to the entire genome, WES has the advantage of cost-effectiveness over WGS, as well as faster data analysis and easier interpretation of data.

What differentiates the Celemics Whole Exome Sequencing Panel?


Usually, researchers look for complete coverage especially when it comes to WES. However, most WES panels in the market vary in their target regions and some are compromised in an effort to increase the coverage, even intentionally deleting some of the ‘hard-to-capture’ regions in order to enhance overall performance of panel. In order to overcome such drawback, Celemics has developed a WES panel that includes coding regions in major gene databases such as RefGene, CCDS, GENCODE and Ensembl with high coverage, resulting in Celemics WES panel to provide the most comprehensive coverage of protein-coding regions, including every target region of major WES panels in the market.

The Celemics WES Panel covers the target regions of all major whole exome panels in the market, which includes WES panels from company A, company I, and company T. Among the regions that Company A and T failed to cover from their own target regions, Celemics covers an additional 60 Kb and 306 Kb of Company A and T respectively (data not shown). Most of these regions are challenging to capture due to GC-rich and repeated sequences. Through Celemics’ optimized probe deigns and panel synthesis technology, the Celemics Whole Exome Panel is able to successfully cover even the challenging regions that other company products struggle with.

 

Celemics provides market-leading target capture performance due to exclusive probe design and reagent optimization technology. While some companies resort to mask the hard-to-capture regions (such as GC- or AT-rich regions and homologous regions) or completely omit the specific regions from their target, Celemics provides both high coverage and on-target ratio without intentionally masking any of the target regions. With Celemics’ proprietary technology, the Celemics WES Panel captures regions that no other companies could capture with superior quality of coverage and uniformity. The all-around performance of Celemics WES panel, regardless of sample type, allows for highly sensitive, cost-effective and time-saving sequencing of the whole exome.


Database Number of genes Size (bp) Celemics WES Panel Coverage
RefGene 19,287 34,318,523 99.30%
CCDS 28,824 32,279,814 99.56%
GENCODE 20,527 34,939,386 98.85%
Ensembl 20,758 35,417,362 96.60%
Venn diagram_CELEMICS WES Panel Coverage

Figure 1. Complete Whole Exome

 

Celemics WES panel shows exceptional performance compared to other competitor products in both germline and FFPE analysis, measured by (A) 1-PCT OFF BIAT (higher the better), (B) Fold 80 base penalty (lower the better). Third-party laboratories (Certified Service Providers) conducted a comparison study between the Celemics WES Panel, Company A and Company I panels. Reference material NA 12878, NA 12891, NA 12892 for germline analysis, andHD832 for FFPE analysis were used with same amount. Illumina instruments were used for the sequencing. The data from the three panels were downsampled to 5.4 Gb.

Superior Performance in the Market_Figure_CELEMICS

Figure 2. Superior Performance in the Market

 

 

Celemics WES panel shows exceptional performance compared to other competitor products in both germline and FFPE analysis, measured by (A) 1-PCT OFF BIAT (higher the better), (B) Fold 80 base penalty (lower the better). Third-party laboratories (Certified Service Providers) conducted a comparison study between the Celemics WES Panel, Company A and Company I panels. Reference material NA 12878, NA 12891, NA 12892 for germline analysis, andHD832 for FFPE analysis were used with same amount. Illumina instruments were used for the sequencing. The data from the three panels were downsampled to 5.4 Gb.

Figure 3. Exceptional Uniformity across Low and High GC Regions

 

(A) The Celemics WES Panel demonstrates minimal deviation, yielding standard deviation of 0.166 (lower the better) across GC-rich and AT-rich regions in comparison to competitor products yielding standard deviations of 0.199 and 0.356, respectively.

(B) The bar graphs shown in difference GC-ratios also illustrate the consistent uniformity of Celemics WES panel in comparison to the competitor products.