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DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING PAIRED END
DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING PAIRED END
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机译:使用配对末端诊断胎儿染色体异常
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摘要
Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. The determination of the relative amounts may count sequences of only certain length. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists. Prior to sequencing, the biological sample may be enriched for DNA fragments of a particular sizes.
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