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. 2022 Aug 24;109(9):1605–1619. doi: 10.1016/j.ajhg.2022.08.003

Figure 3.

Figure 3

Funnel plots demonstrating the use of step-wise root cause analysis to improve the specificity and sensitivity of newborn screening by genomic sequencing

Funnel plots showing reduction in 2,982 positive individuals in 73 positive NBS-rWGS genes among 454,707 UK Biobank participants by root cause analysis (A) and increase in retrospective NBS-rWGS positives among 4,376 children and their parents (B). Variant identifiers are from ClinVar. Abbreviations: LB, likely benign; B, benign; AR, autosomal recessive; AD, autosomal dominant; ICD, International Statistical Classification of Diseases and Related Health Problems; dB, database; UKBB, United Kingdom Biobank.