公开(公告)号：US20110105353A1

公开(公告)日：2011-05-05

申请号：US12940993

申请日：2010-11-05

申请人： Yuk Ming Dennis Lo ,  Kwan Chee Chan ,  Wai Kwun Rossa Chiu ,  Charles Cantor

发明人： Yuk Ming Dennis Lo ,  Kwan Chee Chan ,  Wai Kwun Rossa Chiu ,  Charles Cantor

IPC分类号： G01N33/53 ,  G01N33/48 ,  C12Q1/68

CPC分类号： C12Q1/6876 ,  C12Q1/6827 ,  G06F19/18 ,  G06F19/22 ,  G06F19/24 ,  Y10T436/143333 ,  C12Q2537/165 ,  C12Q2535/101 ,  C12Q2527/125

摘要： Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotypes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided.

摘要翻译： 提供了用于确定胎儿基因组的至少一部分的系统，方法和装置。 可以分析来自母体样品（母体和胎儿DNA）的DNA片段，以鉴定某些位点处的等位基因。 可以一起分析在这些位点处各个等位基因的DNA片段的量，以确定这些基因座的单倍型的相对量，并确定哪些单元型已经从亲代基因组遗传。 可以分析父母是纯合子和杂合子的特异性组合的位点，以确定胎儿基因组的区域。 可以在群体中常见的参考单倍型与母体样品的DNA片段的分析一起使用，以确定母体和父系的基因组。 也可以提供母体样品中突变的确定，胎儿DNA分数的分数以及母体样品测序的覆盖率。