Fig. 1
From: CATCHing putative causative variants in consanguineous families
Schematic showing CATCH strategy for the identification of putative causative variants. Variants provided by a standard variant calling pipeline (i.e. BWA + Samtools or GATK ) are annotated by Annovar and filtered according to user preferences. ROH are calculated from SNPArray data by Plink for all available affected and unaffected family members. CATCH classifies every variant according to its presence/absence in ROHs as depicted in the figure. Green and red areas represent affected (A) and unaffected (U) ROH respectively