Flowchart of the study design (IMAGE)

BGI Genomics

Flowchart of the study design

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Flowchart of the study design. (A) Comparison of the performance of LP GS with that of CMA for diagnosing 375 amniotic fluid samples. (B) Depth evaluation of  LP GS. CMA, chromosomal microarray analysis; CNV, copy number variation; LP GS, low-pass genome sequencing; P/LP, pathogenic/ likely pathogenic; UAHR, uniquely aligned high-quality read; VUS, variant of uncertain significance.

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BGI Genomics

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