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(A) Relationships within the studied families. (B) Number of individuals sequenced with each NGS technology by pathogenicity of the variant. (C) Total number of variants by mode of inheritance and pathogenicity scores (including SNVs/indels and CNVs). (D) Number of unique per family reported variants by type and consequence. WES, whole-exome sequencing; TS, targeted sequencing; WGS, whole-genome sequencing; AD, autosomal dominant; AR, autosomal recessive; XLR, X-linked recessive.
