| 摘要 |
PROBLEM TO BE SOLVED: To provide systems, methods, and apparatus for determining at least a portion of fetal genome DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci.SOLUTION: 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. The loci where the parents is a specific combination of homozygous and heterozygous can be analyzed to determine the region 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 sequencing coverage of the maternal sample can also be provided.SELECTED DRAWING: None |
