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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

Fig. 1

Genomics England Ltd (Genomics England Ltd) variant filtering and tiering strategy for single nucleotide variants (SNVs) or small insertions or deletions. Tier 1 and tier 2 variants were returned to recruiting Genome Medicine Centres (GMC) for variant review and classification following American College of Medical Genetics guidelines. Tier 3 variants were available for review in the research environment. Primary ciliary disorders PanelApp gene panel can be found in Table 1, non-CF bronchiectasis PanelApp gene panel can be found in Table 2

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