Fig. 1
From: Genome sequencing as a generic diagnostic strategy for rare disease
Technical validation of 1271 variants. Schematic representation of detection rates of previously identified pathogenic variants across multiple different workflows. In total, 94.9% (1206/1271) of all variants were detected in GS data. The distribution of variants across the ten workflows shows a detection rate ranging between 79 and 100%. Abbreviations: targeted next-generation sequencing ((t)NGS), deletion polymerase chain reaction (DelPCR), multiplex ligation-dependant probe amplification (MLPA), fluorescence in situ hybridization (FISH), exome sequencing (ES), single nucleotide variants (SNV), copy number variants (CNV), short tandem repeat expansions (STRs), region of homozygosity (ROH), structural variants (SV), chromosome anomalies (CA)