Percentage of base-pairs covered by 8, 20, 50 or 100 sequence reads in UTRs of targeted genes, according to each enrichment method.

<p>Percentage of base-pairs covered by 8, 20, 50 or 100 sequence reads in UTRs of targeted genes, according to each enrichment method.</p

Number of UTRs (<i>n</i>_<i>total</i> = 197) exhaustively covered by 8, 20, 50 or 100 sequence reads, according to each enrichment method.

<p>Number of UTRs (<i>n</i>_<i>total</i> = 197) exhaustively covered by 8, 20, 50 or 100 sequence reads, according to each enrichment method.</p

Percentage of base-pairs covered by 8, 20, 50 or 100 sequence reads in coding regions of targeted genes (with 10 bp of intronic flanking regions), according to each enrichment method.

<p>Percentage of base-pairs covered by 8, 20, 50 or 100 sequence reads in coding regions of targeted genes (with 10 bp of intronic flanking regions), according to each enrichment method.</p

Number of coding exons (with 10 bp of intronic flanking regions; <i>n</i>_<i>total</i> = 576) exhaustively covered by 8, 20, 50 or 100 sequence reads, according to each enrichment method.

<p>Number of coding exons (with 10 bp of intronic flanking regions; <i>n</i>_<i>total</i> = 576) exhaustively covered by 8, 20, 50 or 100 sequence reads, according to each enrichment method.</p

Venn diagram displaying the total number of variants in the targeted genes (coding exons and UTRs, with 10 bp of intronic flanking regions), which were identified by each enrichment method, in Patient #1 and Patient #2.

<p>The presence of mutations colored in red was not confirmed by Sanger sequencing while the presence of mutations colored in green was confirmed by Sanger sequencing (see also <b><a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0143373#pone.0143373.s001" target="_blank">S1 Fig</a></b>).</p