Detection of Copy Number Variation (CNV) in genetic material of abortion tissues includes extracting DNA from cells, single-molecule sequencing and bioinformatics analysis to reveal aneuploidy in any chromosomes and CNV with base length greater than 100K with high accuracy. These cells were picked out such as fetus, embryo or villi developed from fertilized eggs from samples of abortion tissue, uterine curettage tissue, labor induction tissue, etc. The chromosomal abnormality of abortion tissues analysis, which was combined with the genetic background of the parents, can help to discover the genetic reason of the abortion, to provide doctors reliable information to assist the parents.
Genemind has developed a complete CNV-seq solution based on the single-molecule sequencing technology, which greatly reduces the processing time and workflow complexity. The test result will be directly generated online after sequencing, which improves the turnover rate of samples, reduces the time of manual operation, and greatly saves labor costs.
A total 500 cases of abortion product testing were completed in GeneMind’s GenoCare1600 sequencer at the International Peace Maternity And Child Health Hospital. Initially, 150 positive samples of various types were selected for a double-blind testing, and the test results were completely consistent with the NGS (MiSeq) results, which was recognized by the hospital.
There was no PCR process in the entire sample preparation and sequencing process at single-molecule sequencing platform, which can greatly reduce the GC bias of NGS, thereby improve the detection rate for micro-deficiency and micro-repeat small fragments samples and low mosaic ratio samples.
GC bias before correctio
