Reads pairs with discordant reads mapping to 7p15 and 7q21 within 200 bp of each other.

<p>Reads pairs with discordant reads mapping to 7p15 and 7q21 within 200 bp of each other.</p

Chromosome 7 ideogram and breakpoint confirmation.

<p><b>(A)</b> Arrows showing the breakpoint locations. Greek letters facilitate interpretation of the resulting pericentric inversion. Sanger sequencing results for the normal and breakpoint spanning amplicons for <b>(B)</b> the 7p15 and <b>(C)</b> the 7q21 inversion boundaries. The vertical dashed read line highlights the breakpoint. For ease of comparison a dashed black line has been drawn onto the normal sequence. (+): sense strand sequence; (-): antisense strand sequence. The inversion has resulted in an AT dinucleotide duplication which is shown arbitrarily assigned to the 7p15 breakpoint.</p

Characteristics of soft-clipped breakpoint-containing reads.

<p>Characteristics of soft-clipped breakpoint-containing reads.</p

Additional file 1: Table S1. of Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Joubert and Meckel-Gruber syndrome genes included in the targeted exome analysis. Table S2. Summary performance metrics for each sample analysed. Table S3. The percentage of target nucleotides for each gene with a read depth ≥30. Table S4. Summary variant counts following data processing using the SNV/small indel detection pipeline. (DOCX 190 kb

Additional file 2: Figure S1. of Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Schematic representation of the FishingCNV-defined deletions showing the minimum (red) and maximum (green) possible boundaries of the deletion breakpoints for (A) the intragenic AHI1 deletion and (B) the TMEM237 to MPP4 deletion. Exons are displayed in blue and numbering is in accordance with transcripts [GenBank:NM_001134830.1] (AHI1), [GenBank:NM_001044385.2] and [GenBank:NM_152388.3] (TMEM237) and [GenBank:NM_033066.2] (MPP4). (TIF 19237 kb