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
"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.
展开▼