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Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
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机译:用于无创产前诊断的大规模并行测序数据分析方法
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摘要
This invention provides several ways of managing GC bias that occurs during seequencing and analysis of genomic DNA. Maternal plasma can be used as a source of fetal DNA for analysis. DNA segments or tags obtained from the plasma can be aligned with a chromosomal region of interest and with an artificial reference chromosome assembled from regions of the genome having matching GC content. This technology can be used, for example, to detect and evaluate aneuploidy and other chromosomal abnormalities.
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