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A noninvasive prenatal test pipeline with a well-generalized machine-learning approach for accurate fetal trisomy detection using low-depth short sequence data

2023-05-18

Abstract excerpt

<h4>Objective: </h4> To find out whether the prediction model using a machine learning approach can have comparable accuracy with the current state-of-the-art trisomy detection methods in extremely low-depth sequencing data. Verify the practical feasibility of being used for clinical auxiliary screening of fetal trisomy. <h4>Design: </h4> A public dataset with 144 samples is divided into training/validation/test...

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Literature Corpus work
19387b8a-e4a0-5d64-8066-31dd82d69881
DOI
10.22541/au.168441545.51264231/v1
Open publication

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A noninvasive prenatal test pipeline with a well-generalized machine-learning approach for accurate fetal trisomy detection using low-depth short sequence dataDOI 10.22541/au.168441545.51264231/v1
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