As a genotyping tool specifically designed for East and Southeast Asian populations, the traditional solid-phase microarray has long served as a commonly used variant detection tool, relying on over 600,000 marker loci. However, it is constrained by the limitations of its closed system: it can only detect known loci (failing to identify new variants), and each microarray must exclusively process 24 samples.
It is precisely this technical bottleneck that has driven the innovation of alternative solutions. iGeneTech's liquid-phase probe capture technology has achieved a breakthrough with the core advantages of "flexible definition + precise targeting":
Through the precise capture of million-level specific probes, it not only covers the core markers from databases (such as ClinVar and PharmGKB) that are included in traditional solid-phase microarrays, but also captures unknown variants, flanking variants, and low-frequency mutations.
More importantly, when paired with a highly optimized capture system, it enables lower reagent costs and more efficient detection performance.
Product Introduction
iGeneTech’s Human 630K Genotyping Panel is a human genotyping product based on TargetSeq® hybrid capture sequencing technology, enabling simultaneous and accurate genotyping of 630,000 SNP loci.
It has a wide range of applications, including:
Research on the mechanisms of genetic diseases;
Genetic association analysis of complex diseases;
Research on personalized medication guidance in pharmacogenomics;
Large-scale human genetics research in East and Southeast Asian populations.
This panel provides a powerful tool for analyzing population genetic diversity and mining disease susceptibility genes.
Product Advantages
01 High Detection Throughput
The probes cover a 61.9 Mb human genome region, enabling enrichment of over 630,000 common variants used in genotyping research. The locus coverage rate for ASA Chips (24 v1.0) exceeds 96%.
02 Stable and Excellent Performance
Relying on iGeneTech® TargetSeq® hybrid capture sequencing technology, it achieves a capture efficiency of up to 94% and a T 20% coverage rate of over 99%.
03 High Detection Rate
The target region coverage rate can reach over 99.8%, supporting simultaneous detection of target locus variants, novel variants, and flanking variants.
04 High Cost-Effectiveness
A data volume of 4 Gb enables an effective depth of over 30×. It also supports multiplexing, which can effectively reduce costs.
05 Flexible Product Design
It is not limited by sample quantity, supporting testing starting from 1 sample.
Semi-customized services are available according to customer needs to meet personalized requirements.
Performance
01 Excellent Capture Performance
The capture efficiency of the Human 630K Genotyping Panel can reach over 94%, and an effective depth of more than 100× can be achieved with 13 Gb of data.
Figure 1. Capture Performance of the Human 630K Genotyping Panel
The sample used was a gDNA standard (Promega, G3041). Each library had a 750 ng input, and capture was performed coupled with the TargetSeq One® Hyb & Wash Kit v3.0. Sequencing was conducted on the DNBSEQ-T7 platform with PE150 reads, resulting in an approximate data volume of 13 Gb.
02 Stable Metrics Across Different Data Volumes
The Human 630K Genotyping Panel maintains stable performance across different data volumes. With a recommended data volume of 4 Gb, the target region coverage rate can reach over 99%.
Figure 2. Capture Performance of the Human 630K Genotyping Panel Across Different Data Volumes
The sample used was the NA12878 standard, and sequencing was performed on the DNBSEQ-T7 platform with PE150 reads. Different data volumes were extracted for statistical analysis.
03 High Detection Rate and Accuracy
At a data volume of 4 Gb:
The 4× coverage rate can reach over 98.7%.
When using conventional GATK analysis, the detection rate for known mutations exceeds 96.8%, and the concordance rate is over 99.9%.
Figure 3A. Effective Depth of the Human 630K Genotyping Panel Across Different Data Volumes
Figure 3B. Detection Rate and Concordance Rate of the Human 630K Genotyping Panel Across Different Data Volumes
The sample used was the NA12878 standard, and GATK software was adopted to perform mutation analysis on regions with ≥4× coverage.
Product Info
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