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New progress | Basecare Medical won the invention patent of "method and device for integrated detection of CNV, haploid, triploid and ROH"
July 4,2022 ·
Recently, the "method and device for integrated detection of CNV, haploid, triploid and ROH" independently developed by Basecare Medical has obtained the invention patent certificate issued by the State Intellectual Property Office.

The increase and decrease of chromosomenumber, local microdeletion, microduplication or uniparental disomy are one ofthe important factors leading to fetal abortion, congenital malformation andgrowth retardation. In recent years, with the rapid development ofhigh-throughput sequencing technology, genome copy number variation sequencing(CNV-seq) came into being. This technology can detect chromosome deletion andduplication with high accuracy. Many studies have also proved that thistechnology has incomparable advantages over traditional chromosome karyotypeanalysis methods. Therefore, it has been widely used in prenatal diagnosis,clarifying genetic causes, reducing the rate of birth defects and so on.

With the deepening of clinical application,some problems of CNV-seq technology gradually appear. For example, the currentCNV-seq technology can only detect some chromosomal abnormalities, but cannoteffectively detect UPD, triploid and ROH. Therefore, the gene chip technologythat can analyze ROH/UPD and triploid still occupies a certain position inclinical application fields such as prenatal diagnosis, pediatric geneticetiology detection and even abortion etiology screening. However, there arealso some problems in gene chip technology, such as the inability to cover andanalyze the new genome mutations caused by probe fixation, which may lead tomissed detection, weak detection ability for low proportion chimeras, high costand so on.

Instead of chip gene technology, Basecare Medicalrealizes the integrated detection of CNV, uniparental diploid, triploid and ROH

Recently, the "method and device forintegrated detection of CNV, haploid, triploid and ROH" independentlydeveloped by Basecare Medical has obtained the invention patent certificate(Patent No.: ZL 2022 10039954.8) issued by the State Intellectual PropertyOffice. This method mainly solves the pain points that CNV-seq cannot detectCNV, ploidy changes, uniparental disomy (UPD) and homozygous state (Roh) at the same time.


This patent is a library constructionmethod based on the independent intellectual property rights of Basecare Medical.It can detect the integrated CNV, haploid, triploid and ROH of samples based onthe whole genome sequencing data under the condition of low sequencing depth,which can make up for the problem that the gene chip technology can not detectnew mutations and low proportion chimerism in clinic, In addition, the ROH/UPDand triploid mutations that cannot be detected by conventional CNV-seqtechnology are improved, and the characteristics of low-depth CNV-seq technology,such as low cost, high throughput and high platform compatibility, areretained.

This technology can not only improve thedetection efficiency and analysis accuracy, but also reduce the detection cost,greatly meet the clinical needs and accelerate the industrialization. It is ofgreat significance for the development of genetic detection technology. Thistime, it obtained the patent of "method and device for integrateddetection of CNV, haploid, triploid and ROH", which marks that Basecare Medicalis further expanding the application scenario of CNV-seq technology to a morecomprehensive and efficient continuous extension.