Extended Data Table 8 Modelling impact of revised variant filter configurations on rate of automated low chance results

From: Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

  1. CNV: Copy number variant
  2. a Variants in the literature were identified using the Mastermind software suite API (Genomenon).
  3. b Variants previously described as likely pathogenic or pathogenic in ClinVar or the internal VCGS variant database.
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