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NON-INVASIVE DETERMINATION OF FETAL INHERITANCE OF PARENTAL HAPLOTYPES AT THE GENOME-WIDE SCALE
NON-INVASIVE DETERMINATION OF FETAL INHERITANCE OF PARENTAL HAPLOTYPES AT THE GENOME-WIDE SCALE
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机译:基因组范围内非侵入性确定胎儿遗传型胎儿遗传力的方法
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摘要
The present invention provides a method, device and a computer program for haplotyping single cells, such that a sample taken from a pregnant female, without directly sampling the fetus, provides the ability to non-invasively determine the fetal genome. The method can be performed by determining the parental and inherited haplotypes, or can be performed merely on the basis of the mother's genetic information, obtained preferably in a blood or serum sample. The novel device allows for sequence analysis of single chromosomes from a single cell, preferably by partitioning single chromosomes from a metaphase cell into long, thin channels where a sequence analysis can be performed.
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