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MULTIPLEX PARALLEL ANALYSIS OF TARGET GENOMIC AREAS FOR THE PURPOSE OF NONINVASIVE Prenatal Testing
MULTIPLEX PARALLEL ANALYSIS OF TARGET GENOMIC AREAS FOR THE PURPOSE OF NONINVASIVE Prenatal Testing
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机译:针对无创产前检查的目标基因组区域的多重并行分析
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摘要
The present invention provides methods for non-invasive prenatal testing that detect the risk of chromosomal and subchromosomal abnormalities, including, but not limited to, aneuploidy, microdeletion and microduplication, insertion, translocation, inversion and mutation of small size, including point mutations and mutational signatures. In the methods of the invention, a target capture sequence (PCL) pool is used to enrich sequences of interest in a mixed sample containing both maternal DNA and fetal DNA, followed by mass-parallel sequencing and statistical analysis of the enriched population. risk of genetic abnormalities in fetal DNA. Also proposed kits for implementing the methods of this invention.
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