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

2 Sept 2024

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...

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Fetal and Pediatric Neurological Disorders
Genomic variations and chromosomal abnormalities
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39223156
DOI: 10.1038/s41467-024-51508-1

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