Article

Genome-Wide Disease Screening in Early Human Embryos with Primary Template-Directed Amplification

2021-07-07

Abstract excerpt

Current preimplantation genetic testing (PGT) enables the selection of embryos based on fetal aneuploidy or the presence a small number of preselected disease-associated variants. Here we present a new approach that takes advantage of the improved genome coverage and uniformity of primary template-directed amplification (PTA) to call most early embryo genetic variants accurately and reproducibly from a preimplanta...

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Literature Corpus work: 5f6c4d7a-9542-5865-ae68-b5d33652093a
DOI: 10.1101/2021.07.06.451077

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