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

Summary by Nature
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 abnormalities. Although genotyping-by-sequen…

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oksenate.gov broke the news in on Thursday, May 8, 2025.
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