Identifying a de novo fetal mutation from a maternal biological sample


Ontology type: sgo:Patent     


Patent Info

DATE

2018-10-09T00:00

AUTHORS

LO YUK MING DENNIS , CHAN KWAN CHEE , CHIU WAI KWON ROSSA , CANTOR CHARLES

ABSTRACT

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. More... »

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