发明名称 |
DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING GENOMIC SEQUENCING |
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 sequences. Respective amounts of a clinically relevant chromosome and background chromosomes are determined from the results of the sequencing. 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. |
申请公布号 |
EP3067807(A1) |
申请公布日期 |
2016.09.14 |
申请号 |
EP20160150714 |
申请日期 |
2008.07.23 |
申请人 |
THE CHINESE UNIVERSITY OF HONG KONG |
发明人 |
YUK-MING, DENNIS LO;ROSSA WAI, KWUN CHIU;KWAN, CHEE CHAN |
分类号 |
G06F19/00;C12Q1/68 |
主分类号 |
G06F19/00 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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