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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Fig. 1

Flowchart of WES (Whole Exome Sequencing) analysis: T1, T2, T3 design the three nuclear families respectively, p (paternal) for the father, m (maternal) for the maternal and c for the affected child. The number in dark boxes indicate the total number of variants identified respectively in T1, T2 and T3 and inherited in affected children as (a) homozygous and (b) compound heterozygous variants. As mentioned in the text, we selected only those variants which were observed in at least two trios and putatively pathogenic as suggested by SIFT and/or POLYPHENv2 software

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