发明名称 |
METHODS FOR ANALYZING MASSIVELY PARALLEL SEQUENCING DATA FOR NONINVASIVE PRENATAL DIAGNOSIS |
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 |
申请公布号 |
US2013245961(A1) |
申请公布日期 |
2013.09.19 |
申请号 |
US201313802268 |
申请日期 |
2013.03.13 |
申请人 |
THE CHINESE UNIVERSITY OF HONG KONG |
发明人 |
LO YUK MING DENNIS;CHIU WAI KWUN ROSSA;CHAN KWAN CHEE;ZHENG WENLI;SUN HAO;CHEN ZHANG |
分类号 |
G06F19/16 |
主分类号 |
G06F19/16 |
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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