Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma
Fig 1
Variants were called using GATK and FreeBayes, then filtered using a hard filter. High confidence variants were selected based on those that were detected by both variant callers. Variants were further filtered according to population allele frequency (retaining those < 1%) and predicted functional impact. Two distinct analyses were performed to identify potentially important genes, pathways, and ontology terms: 1) Identification of genes that have deleterious variants in multiple families; 2) A gene-based mutational burden analysis.