Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.

ABSTRACT: Whole-genome sequencing of preimplantation human embryos to detect and screen for genetic diseases is a technically challenging extension to preconception screening. Combining preconception genetic screening with preimplantation testing of human embryos facilitates the detection of de novo mutations and self-validates transmitted variant detection in both the reproductive couple and the embryo's samples. Here we describe a trio testing workflow that involves whole-genome sequencing of amplified DNA from biopsied embryo trophectoderm cells and genomic DNA from both parents. Variant prediction software and annotation databases were used to assess variants of unknown significance and previously not described de novo variants in five single-gene preimplantation genetic testing couples and elev

SUBMITTER: Murphy NM 

PROVIDER: S-EPMC7052235 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature