Article

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

2023-01-12

Abstract excerpt

<title>Abstract</title> <p>Maternally inherited 15q11-q13 duplications are generally found to cause more severe neurodevelopmental anomalies compared to paternally inherited duplications. However, this assessment is mainly inferred from the study of patient populations, causing an ascertainment bias. Here, we analyze the low coverage genome-wide cell-free DNA sequencing data obtained from pregnant women during no...

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Literature Corpus work: 10943969-cc4b-5627-b2c2-a07e5e5feb1e
DOI: 10.21203/rs.3.rs-2402065/v1

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