Table 2

Statistics on Solexa/Illumina massively parallel resequencing runs of five DNA pools derived from 120 patients with nephronophthisis associated ciliopathies (NPHP-AC)

Patient poolDNAs pooledNo. of reads (39 bases)Mean coverage depth of coding regionsMedian coverage depth of coding regionsMaximum coverage depth of coding regionsCoding bases covered ≥300× [%]VRSSNP130VRS in HRC1-poolVRS minus SNPv130 minus HRC1-poolVRS (PolyPhen-2 score ≥0.7)Confirmed by Sanger sequencing
Pool 12415600763623945675328497.667262393224 (75%)
Pool 22416580432556144293450795.685271741168 (50%)
Pool 32415536857469038092976791.41212514823618 (50%)
Pool 42415741392484228774837295.157198301915 (79%)
Pool 52419882361743252505438697.54922819118 (73%)
Sum12083341805NANANANA3791194921111474 (65%)
  • HRC-1, human random control DNA panel-1; SNP, single nucleotide polymorphism; VRS, variants from reference sequence.