基本信息:
- 专利标题： SIZE-BASED GENOMIC ANALYSIS
- 申请号：EP18182983.9 申请日：2010-11-05
- 公开(公告)号：EP3406737A1 公开(公告)日：2018-11-28
- 发明人： LO, Yuk Ming Dennis , CHAN, Kwan Chee , ZHENG, Wenli , CHIU, Wai Kwun Rossa
- 申请人： The Chinese University of Hong Kong
- 申请人地址： Technology Licensing Office Room 328, Pi Ch'iu Building Shatin, New Territories, Hong Kong CN
- 专利权人： The Chinese University of Hong Kong
- 当前专利权人： THE CHINESE UNIVERSITY OF HONG KONG
- 当前专利权人地址： THE CHINESE UNIVERSITY OF HONG KONG
- 代理机构： J A Kemp
- 优先权： US25907609P 20091106; US36039910P 20100630
- 主分类号： C12Q1/68
- IPC分类号： C12Q1/68
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.
公开/授权文献:
- EP3406737B1 SIZE-BASED GENOMIC ANALYSIS 公开/授权日：2023-05-31