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A DEVICE FOR DETECTING COPY NUMBER OF FETAL CHROMOSOMES OR TUMOR CELL CHROMOSOMES

机译:一种检测胎儿染色体或肿瘤细胞染色体拷贝数的装置

摘要

The invention relates to a kit, a device and a method for detecting the copy number of fetal chromosomes and tumor cell chromosomes. The method for detecting the copy number of fetal chromosomes or tumor cell chromosomes of the invention includes the following steps: collecting maternal plasma or plasma of tumor patient; separating the plasma from blood cells in blood; preparing Deoxyribonucleic Acids (DNA) in the plasma into a sequencing library; sequencing the DNA sequencing library; comparing a sequencing result with a genomic sequence map to determine which chromosome the DNA sequence comes from and the length of each DNA sequence; and calculating the ratio of the DNA segments from the chromosomes to be detected to all DNA segments in the same sample by a sequencing and comparison result of DNA, correcting the ratio according to a GC content of the DNA segments from the chromosomes to be detected, and calculating the variation of the corrected ratio of the DNA segments from the chromosomes to be detected in a sample to be detected, and determining the copy number of the chromosomes to be detected according to degree of variation.
机译:本发明涉及一种用于检测胎儿染色体和肿瘤细胞染色体的拷贝数的试剂盒,装置和方法。本发明的胎儿染色体或肿瘤细胞染色体拷贝数的检测方法包括以下步骤:收集母体血浆或肿瘤患者血浆;从血液中的血细胞中分离血浆;将血浆中的脱氧核糖核酸(DNA)制备到测序文库中;对DNA测序文库进行测序;比较测序结果和基因组序列图,以确定DNA序列来自哪个染色体以及每个DNA序列的长度;通过DNA的测序比较结果计算出待检测染色体的DNA片段与同一样品中所有DNA片段的比例,并根据待检测染色体的DNA片段的GC含量进行校正。计算待检测样品中待检测染色体的DNA片段校正比例的变化,并根据变化程度确定待检测染色体的拷贝数。

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