WHOLE GENOME SEQUENCING OF A HUMAN FETUS

摘要

Methods of genome sequencing of a fetus are provided herein. In some embodiments, such methods include steps of predicting inheritance or transmission of an allele from one or more maternal-only heterozygous sites from a maternal genomic sequence to a fetal genome sequence; and predicting inheritance or transmission of an allele from one or more paternal-only heterozygous sites from a paternal genomic sequence to a fetal genome sequence. In some embodiments, the methods may also include predicting transmission of one or more genomic variants at one or more heterozygous sites that are present on both a maternal genomic sequence and a paternal genomic sequence. According to these embodiments, the paternal genomic sequence and the maternal genomic sequence are derived from a biological sample containing DNA. According to other embodiments, the sequencing methods may include a step of predicting de novo mutations in a fetal genomic sequence.

主权项

1. A method of genome sequencing of a fetus comprising:
predicting inheritance or transmission of an allele from one or more maternal-only heterozygous sites from a maternal genomic sequence to a fetal genome sequence; and predicting inheritance or transmission of an allele from one or more paternal-only heterozygous sites from a paternal genomic sequence to a fetal genome sequence; wherein the paternal genomic sequence and the maternal genomic sequence are derived from a biological sample containing DNA.