EMBRYONIC GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE

Abstract

Systems, methods, and apparatus are provided for determining at least a portion of the fetal genome. DNA segments from a maternal sample (maternal and fetal DNA) can be analyzed to identify gene alleles at specific loci. The amounts of DNA segments of the corresponding gene alleles at these loci can be analyzed together to determine relative amounts of haplotypes for these loci and to determine which haplotypes have been inherited from the parental genomes. The loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes that are common in the population can be used in conjunction with the analysis of DNA segments from the maternal sample to determine the maternal and paternal genomes.The determination of mutations, a fractional concentration of fetal DNA in a maternal sample, and a coverage rate of a sequencing determination of the maternal sample may also be provided.