GeneMind Whole Exome Sequencing (WES) solution is specifically designed for the clinical research of hereditary diseases. Developed in accordance with the latest expert consensus and featuring continuously updated disease and variant databases, this solution enables precise molecular diagnosis for patients and their families with suspected genetic disorders, thereby helping to overcome the diagnostic challenges posed by the heterogeneity and complexity of rare diseases.
It comprehensively covers pathogenic or likely pathogenic variants in the ClinVar and LOVD databases
Single-exon level for key genes (e.g., DMD, *HBA1/HBA2*, HBB);
10 kb high-density probes for high - frequency pathogenic regions (e.g., 22q11.2, 1p36);
Genome-wide 200 kb spaced backbone probes (optional 50/100 kb densification);
Comprehensive detection of CNVs ≥1 Mb.
Enables sex quality control to verify the sex of samples, prevent errors caused by mix - ups or contamination, and improve overall detection accuracy
The analysis software has integrated the latest and practical annotation tools, offering a variety of filtering options that make variant interpretation more user - friendly
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Parameters |
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Sample type |
gDNA / Tissue / Blood |
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Application |
Genes and Inherited Disease |
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Sequencing Platform |
GenoLab M |
FASTASeq 300 |
SURFSeq 5000 |
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No. of samples/run1 |
1 FCM : 6 1 FCH : 12 1 FCM+1 FCH: 18 2 FCM：12 2 FCH: 24 |
1 FCM: 2 1 FCH: 6 |
1 FCM : 12 1 FCH : 48 1 FCM+1 FCH: 60 2 FCM: 24 2 FCH: 96 |
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Read length |
PE150 |
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Effective throughput/sample |
Around 10 Gb |
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Turn-around-time |
3-5 days |
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Report generation |
Local analysis and report system |
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Note:
1.Based on the GMExome panel with a mean coverage of≥100×
2.The theoretical throughput is calculated by assuming 3 runs per week over 52 weeks, resulting in a total of 156 runs per year.
