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Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
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机译：归一化染色体，用于确定和验证常见和罕见的染色体非整倍性
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摘要
The present invention provides a method capable of detecting single or multiple fetal chromosomal aneuploidies in a maternal sample comprising fetal and maternal nucleic acids, and verifying that the correct determination has been made. The method is applicable to determining copy number variations (CNV) of any sequence of interest in samples comprising mixtures of genomic nucleic acids derived from two different genomes, and which are known or are suspected to differ in the amount of one or more sequence of interest. The method is applicable at least to the practice of noninvasive prenatal diagnostics, and to the diagnosis and monitoring of conditions associated with a difference in sequence representation in healthy versus diseased individuals.
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