Short listed in Phase I analysis 69 variants 993453 coding variants Short listed in Phase II analysis Short listed in Phase III analysis 45 variants 60 variants de novo 67 ID: 1044508
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1. Pre-filters178471 variantsShort listed in Phase I analysis69 variants993453 coding variantsShort listed in Phase II analysisShort listed in Phase III analysis45 variants60 variantsde novo67 variantsHomozygous51 variantsCompound Heterozygous22 variantsXLR9 variantsHeterozygous (inherited)25 variantsClass 227 variantsClass 3152 variantsClass 414 variantsClass 53 variantsPrimary Molecular diagnoses10Undiagnosed14ResultsSchematic breakdown of number of variants in 24 trios in different steps of the RaPS workflow. In Phase I, the number of genes filtered is different in each trio. Phase II is composed of genes from GGD2P (1643genes) and OMIM Morbid Genes (7737 genes) databases and is standard across all trios. The RaPS variant analysis workflow is phased to prioritise likely causative gene variants. Note that compound heterozygous and homozygous variants are counted once. Number of variants in 24 triosNumber of variants in 24 patientsSupplementary Figure 3: Variant breakdown overview