PMC9483008_01
The timeline of diagnostic and therapeutic interventions.
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F1
The workflow of the Whole Exome Sequencing (WES) data processing, filtration, annotation and final interpretation.AB:Allele Balance; AF:Allele Frequency; C:Allele Count; DP:Depth of Coverage; GQ:Genotype Quality; HEM:Hemizygous; HET:Heterozygous; HOM:Homozygous; HPO:Human Phenotype Ontology; max:maximum; REVEL:Rare Exome Variant Ensemble Learner; VQSR:Variant Quality Score Recalibration. #:predictive tools that were used: CADD; BayesDel noAF; FATHMM-MKL; MutationTaster; Polyphen2; SIFT.
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F2
The samples were subjected to additional filtering, during which low quality variants were removed, as shown below in Figure 2. Data has been filtered according to minor allele frequencies, variant effects and known annotations in databases and journal publications in different settings accordingly to expected inheritance and variant parameters (Figure 2.).