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

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

Number of mutations identified through the WES analysis of DNA sample from the PNDM patient.

<p>*<i>Novel</i>: a novel mutation means that it is not present in the public database dbSNP130 and the eight HapMap exomes sequenced by Ng et al. <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0013630#pone.0013630-Ng1" target="_blank">[7]</a>.</p>†<p><i>Concordance</i>: % of similar allele assignment among exomic mutations detected on the Illumina Human1M-Duo array and those discovered by WES.</p>‡<p><i>Sensitivity</i>: % of exomic mutations present on the Illumina Human1M-Duo array that have been discovered by WES.</p

Details on exomic sequencing depth in NDM genes, obtained through the WES of the PNDM patient.

<p>Details on exomic sequencing depth in NDM genes, obtained through the WES of the PNDM patient.</p

Number of variants identified through the WES analysis of the four DNA samples.

a<p>This includes all identified variants (including insertion or deletion) that reach the quality threshold and with depth of coverage ≥8×; <b><i>Novel</i></b> means not present in the public database dbSNP130; <b><i>Indel</i></b>, insertion or deletion.</p

Pedigree of the family showing diabetes status of each member, as well as genetic status, age of diagnosis, treatment and date of birth.

<p>With regard to the genetic status, NM denotes the presence of the heterozygous <i>KCNJ11</i> p.Glu227Lys mutation and NN denotes the absence of mutation at the same locus. Circles represent female participants and squares male participants. A slash through the symbol indicates that the family member is deceased. Black symbols indicate patients with non autoimmune diabetes. The half-filled and quarter-filled symbols indicate individuals with impaired glucose tolerance and impaired fasting glucose, respectively. The black symbols with a white diagonal denote patients with type 1 diabetes. Green arrows point to members for whom the whole-exome was sequenced. <b><i>INS</i></b>, insulin; <b><i>OHA</i></b>, oral hypoglycaemic agents; <b><i>SU</i></b>, sulfonylurea.</p

Estimation of number of variants to be assessed by genotyping in the extended family and in controls.

a<p>Variants of interest are non-synonymous mutations, splice site mutations, gains of STOP codon. No frameshift mutation was found in any of the combinations.</p