首页> 外国专利> methods for determining at least a portion of the genome of an unborn fetus of a pregnant female, to identify a de novo mutation in the genome of an unborn fetus of a pregnant female, to determine a fractional concentration of fetal DNA in a biological sample taken of a pregnant female and to determine a proportion of a fetal genome that was sequenced from a biological sample taken from a pregnant female

methods for determining at least a portion of the genome of an unborn fetus of a pregnant female, to identify a de novo mutation in the genome of an unborn fetus of a pregnant female, to determine a fractional concentration of fetal DNA in a biological sample taken of a pregnant female and to determine a proportion of a fetal genome that was sequenced from a biological sample taken from a pregnant female

机译:确定孕妇未出生胎儿的基因组的至少一部分的方法,以鉴定孕妇未出生胎儿的基因组的从头突变,以确定所采集生物学样品中胎儿DNA的分数浓度并确定胎儿基因组的比例,该比例是从取自怀孕女性的生物学样品中测序而来的

摘要

"Methods for determining at least a portion of the genome of an unborn fetus of a pregnant female, to identify a new genome mutation of an unborn fetus of a pregnant female, to determine a fractional concentration of fetal DNA in a biological sample taken. of a pregnant female and to determine a proportion of a fetal genome that has been sequenced from a biological sample taken from a pregnant female "systems, methods, and apparatus for determining at least a portion of the fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain sites. The amounts of DNA fragments of the respective alleles at these sites can be analyzed together to determine relative amounts of haplotypes for these sites and to determine which haplotypes were inherited from the parent genomes. Locations where parents are a specific combination of homozygote and heterozygote can be analyzed to determine regions of the fetal genome. Common reference haplotypes in the population can be used together as the analysis of DNA fragments from the maternal sample to determine maternal and paternal genomes. Mutation determination, a fractional fetal DNA concentration in a maternal sample, and a coverage ratio of a maternal sample sequencing may also be provided.
机译:“确定怀孕女性未出生胎儿基因组至少一部分的方法,以鉴定怀孕女性未出生胎儿的新基因组突变,确定所采集生物学样品中胎儿DNA的分数浓度。本发明提供了“从怀孕的女性那里获取的生物学样品中测序的胎儿基因组的比例”,该系统,方法和设备用于确定胎儿基因组的至少一部分。可以分析来自母体样品的DNA片段(母体和胎儿DNA)以鉴定某些位点的等位基因。可以一起分析这些位点上各个等位基因的DNA片段的量,以确定这些位点的单倍型的相对量,并确定哪些单倍型是从亲本基因组遗传的。亲本是纯合子和杂合子的特定组合的位置可以被分析以确定胎儿基因组的区域。群体中常见的参考单倍型可以一起用于分析母体样品的DNA片段,以确定母体和父本基因组。还可以提供突变测定,母体样品中胎儿DNA的分数浓度以及母体样品测序的覆盖率。

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