Fig. 1

Genetic data analysis pipeline and criteria for variant inclusion. Schematic representation of the analytical pipeline adopted for variant identification and prioritization, including all the filtering-in and filtering-out criteria. The resulting variants were included in the final genetic report. Whenever possible, variant(s) validation and family segregation studies were performed. Genetic reports were classified as conclusive, uncertain, or inconclusive based on the indicated criteria. Based on this classification the diagnostic rate of our next-generation sequencing (NGS) workflow was calculated. 1 KG: 1000 genomes database; Alt fr: altered frequency; C3: variant of unknown significance; C4: likely pathogenic variant; C5: pathogenic variant; AR: autosomal recessive