Additional file 1: Figure S1. of CATCHing putative causative variants in consanguineous families

Flow chart diagram explaining the process of identification and ranking of putative candidate variants. After assignment of the pathogenicity scores according to SIFT, PolyPhen (PP) and MutationTaster (MT), CATCH classifies the variants according to ROHs (see Fig. 1 and main text). Only Class I and Class III are further labeled as: pathogenic - being a known pathogenic or a predicted pathogenic variant inside a know pathogenic gene related to the phenotype; strong candidate - predicted pathogenic variant in a gene likely involved in the pathology according to supporting literature data; Variant of Unknown significance (VUS) - predicted pathogenic variant in a gene not known to be related to the phenotype; − Benign - predicted non pathogenic variants not reported as causative in the literature. (DOCX 56 kb

Additional file 2: Table S1. of CATCHing putative causative variants in consanguineous families

Class I pathogenic variants in known disease-causing genes identified in 17 consanguinous families. (DOCX 15 kb

El catequista : Revista semanal aprobada y bendecida por el Excmo. e Ilmo. Sr. Obispo de la Diócesis: Año II Número 15 - 1907 abril 11

Copia digital. Madrid : Ministerio de Cultura. Subdirección General de Coordinación Bibliotecaria, 200