Article

Haplotype-aware inference of human chromosome abnormalities

2021-05-20

Abstract excerpt

Extra or missing chromosomes—a phenomenon termed aneuploidy—frequently arises during human meiosis and embryonic mitosis and is 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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Literature Corpus work: 68cddbb0-d054-5779-abd7-b93e2efe299d
DOI: 10.1101/2021.05.18.444721

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