Article

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

2023-12-08

Abstract excerpt

High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in nuclear or mitochondrial DNA from single or few-cells biopsied from in vitro fertilised (IVF) embryos is challenging. PGT aims to select IVF embryos without genetic abnormalitie...

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Literature Corpus work: 5d9821c4-327b-5f49-b483-afb25a746d97
DOI: 10.1101/2023.12.06.23299605

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