This project proposes the testing of a cohort of research embryos to establish the key parameters for amplified trophectoderm biopsied embryos using minimum depth required for genome sequencing (>depth of 30X per base) and whole exome sequencing (>depth of 500X per base). Analysis will be performed using multiple trio testing of each embryo in addition to the DNA from the genetic parent.~The study will compare 50 embryos from infertile women <30 years old and fathers 40 and above to 50 embryos from infertile women <30 years old and fathers <30. Biopsied trophectoderm DNA samples from the embryo will be genome and exome sequenced, with genome sequencing performed on each parents DNA sample.
This research project will seek to utilize developments in whole genome sequencing of preimplantation genetic diagnosis embryos to investigate the effect paternal age has on the de novo mutation rate of IVF embryos.~The study will whole genome sequence DNA obtained from biopsied embryos from infertile women to acquire the mutational burden status. This will enable ascertainment of the de novo mutation rate in addition to potential mutational hotspots.