发明名称 |
Size-based genomic analysis |
摘要 |
Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at- risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus. |
申请公布号 |
AU2010317019(A1) |
申请公布日期 |
2012.05.31 |
申请号 |
AU20100317019 |
申请日期 |
2010.11.05 |
申请人 |
THE CHINESE UNIVERSITY OF HONG KONG |
发明人 |
LO, YUK MING DENNIS;CHAN, KWAN CHEE;ZHENG, WENLI;CHIU, WAI KWUN ROSSA |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
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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