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Haplotype-aware inference of human chromosome abnormalities

12 Nov 2021

Abstract excerpt

Extra or missing chromosomes-a phenomenon termed aneuploidy-frequently arise during human meiosis and embryonic mitosis and are the leading cause of pregnancy loss, including in the context of in vitro fertilization (IVF). While meiotic aneuploidies affect all cells and are deleterious, mitotic errors generate mosaicism, which may be compatible with healthy live birth. Large-scale abnormalities such as triploidy...

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Share to Genetic Syndromes and Imprinting
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PMID: 34772814
DOI: 10.1073/pnas.2109307118

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