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NGS strategies employed in the genetic diagnosis of mitochondrial disease. (A) WGS analyses all coding and non‐coding regions of the genome. (B) WES targets only the coding exons plus immediate intron–exon boundaries. (C) Target capture facilitates sequencing of a predetermined genomic region or list of candidate disease genes. Non‐coding/intronic regions are shaded grey, exons of candidate genes are shaded blue, and exons of non‐candidate genes are shaded pink.
