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CNV-seq Detection (Semiconductor Sequencing)

The detection kit, which is based on the BES 4000 platform, is used to perform low-depth whole-genome sequencing of DNA. The sequencing results are compared to the base sequence of the human reference genome, and CNVs in the tested samples are discovered using bioinformatics analysis. It is often used to find out why a woman keeps having miscarriages, find out what is wrong with an abnormal fetus, and help with a prenatal diagnosis. 

cnv detection

What Are The Methods To Detect CNV?

There are four main methods for detecting CNVs using Next-Generation Sequencing (NGS) data: read-pair, split-read, read-depth, and assembly.

  1. Read-Pair Method: This approach involves analyzing the distance between pairs of sequence reads. Deviations from the expected distance can indicate the presence of a CNV.

  2. Split-Read Method: This method identifies CNVs by looking for reads that span a breakpoint. The portion of the read that aligns to the reference sequence can provide information about the CNV.

  3. Read-Depth Method: This is the most commonly used method in NGS-based CNV detection. It works by comparing the depth of coverage in different regions of the genome. Regions with unusually high or low coverage can suggest a CNV.

  4. Assembly Method: This approach involves assembling the reads into a new genome sequence and then comparing this sequence to the reference genome to identify CNVs.

Each of these methods has its strengths and limitations, and the choice of method often depends on the specific requirements of the study. CapitalBio Technology continues to innovate in this area, developing advanced tools and technologies to facilitate accurate and efficient CNV detection.

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