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Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples.

Ulrich Broeckel,M. Anwar Iqbal,Brynn Levy,Nikhil Sahajpal,Peter L. Nagy,Gunter Scharer,Vanessa Rodriguez,Aaron Bossler,Aaron Stence,Cindy Skinner,Steven A. Skinner,Ravindra Kolhe,Roger Stevenson

JOURNAL OF MOLECULAR DIAGNOSTICS（2024）

引用 2|浏览29
关键词
Trisomy Detection,Maternal Plasma DNA Sequencing,Fetal DNA Analysis,Structural Variation,Genomic Sequencing
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