Fig. 1: The flow diagram depicts the recruitment of participants and methods used for screening. | npj Genomic Medicine

Fig. 1: The flow diagram depicts the recruitment of participants and methods used for screening.

From: A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population

Fig. 1

Two participant cohorts were used in this study. a The first participant cohort consists of 1000 individuals, who were detected in parallel with NGS and CEBMPA to validate the sensitivity and specificity of CEBMPA. b The second cohort including 1915 couples (3830 individuals) were detected with CEBMPA. All detected variants were confirmed by alternative methods, such as Sanger sequencing, multiplex ligation-dependent probe amplification, or Gap-PCR.

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