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New Launch | Mini Exome Applicable for Inherited Diseases Detection Unlock Genetic Code and Safeguard Health Future!

View: 3756 / Time: 2023-12-13
01 Background
In the era of precision medicine, the importance of inherited disease detection has become increasingly prominent. By analyzing variations in an individual's genome, inherited disease detection can provide critical information for early prevention, diagnosis and treatment of disease. Compared with traditional inherited disease detection technology, whole-exome sequencing has significant advantages in improving the diagnostic accuracy of diseases, discovering new mutation types, and conducting deep sequencing. However, whole-exome sequencing faces challenges in clinical inherited diseases detection, such as the loss of information in important variant regions due to insufficient coverage depth. Additionally, the vast amount of sequencing data poses challenges for bioinformatics analysis.
Nanodigmbio has launched NEXome Mini Panel, a streamlined panel for tinherited disease detection, which designed specifically for clinical application. By focusing on core gene regions, this panel provides a more efficient and cost-effective solution for clinical genetic disease detection.
02 Introduction
NEXome Mini Panel v1.0 focuses on the exome associated with clinical inherited diseases, with probes coverage spanning a 16.1 Mb genomic region involving 5,650 clinically significant genes and encompassing over 4,000 genetic disease. In comparison to the whole exome panel, the NEXome Mini Panel can be used to rapidly and efficiently detect pathogenic genetic variations within target genes in the human genome. This not only reduces sequencing costs but also shortens data analysis time significantly.
03 Feature
 Highly Targeted: Focuses on the exome associated with clinical inherited diseases, covering a 16.1 Mb genomic region, involving 5650 genes related to over 4000 clinical genetic disorders.
 High Accuracy: Based on the probe hybridization capture principle, it can accurately detect genetic variations within target genes, providing reliable data support for subsequent research.
 High Efficiency: Compared to the whole exome Panel, the NEXome Mini Panel can rapidly detect pathogenic genetic variations within target genes, thereby reducing data analysis time and minimizing turnaround time.
 Cost-effective: Aim to only include clinically significant regions specifically related to inherited diseases, effectively reducing sequencing costs.
04 NEXome Series
NEXome Mini Panel is the fourth panel in Nanodigmbio's NEXome series for exome detection. These panels are different in coverage areas and mutation detection and other aspects, allowing users to choose according to their requirements. NEXome Mini Panel v1.0 is specifically designed for clinical inherited disease detection, covering a 16.1 Mb genomic region. It includes enhanced probes for HLA typing, IG/TR regions, and detection of Clinvar sites in non-coding regions, providing accurate diagnosis of genetic diseases.
Table 1. Comparison of NEXome Panel-series.
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05 Performance
Capture Performance
Despite reducing the genome coverage region, the NEXome Mini Panel still maintains the excellent capture efficiency of the NEXome series. Sequencing data on the Illumina platform reveals that on-target rate of over 92% (calculated in reads), with over 93.9% of the regions reach 0.5x mean depth.
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Figure 1. Capture performance of NEXome Mini Panel v1.0. Cell Line gDNA Standard (Coriell, NA12878) were used to prepare library with the NadPrep DNA Library Preparation Kit (for Illumina®). NEXome Mini Panel v1.0 were used to complete hybridization capture. The BWA was used for alignment of raw reads to the reference genome (hg38). A. Mappability, On-target rate, and target coverage; B. GC Bias.
Note: Sample: 50ng Cell Line gDNA Standard (Coriell, NA12878). Sequencing platform: Illumina Novaseq 6000，PE150.
High Confidence Variant Calls
We conducted separate analyses for the detection of two types of variation, SNP and Indel, in the coverage region and flanking 30 bp extension region of the NEXome Mini Panel using cell line NA12878. The results showed excellent sensitivity and positive predictive values (PPV) (Figure 2).
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Figure 2. Sensitivity and PPV of NEXome Mini Panel for NA12878 mutation identification.
More Efficient and Cost-effective
Compared to the NEXome Core Panel, which covering the whole exome regions, the NEXome Mini Panel has a coverage limited to 38.61% of the NEXome Core Panel due to its targeting of genes only associated with genetic diseases (Figure 3.A). Consequently, in scenarios requiring a sequencing depth of 100x, the data required for the NEXome Mini Panel is only 2.3 Gb (Figure 3.B).
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Figure 3. The NEXome Mini Panel reduces sequencing raw data to minimize costs. A. Minimum amount of raw data required for the NEXome Mini Panel and NEXome Core Panel to achieve a specific depth; B. Coverage region and relationship between the NEXome Mini Panel and NEXome Core Panel.
06 Prospects for Application
With the development of genomics and people's increasing understanding of inherited diseases, exome analysis is becoming increasingly important in the field of inherited disease detection. Accurate detection of core gene regions can improve detection efficiency and accuracy while reducing sequencing costs.
The launch of the streamlined exome panel for inherited disease detection, NEXome Mini Panel, contributes to the early screening and prevention of inherited diseases, reducing incidence rate, alleviating the societal burden, and providing more comprehensive genetic disease detection services to a broader population. In addition, researchers can more accurately identify the causes and pathological mechanisms of inherited diseases, providing robust support for subsequent development of new drugs.
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