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Table 3 The identification of runs of homozygosity between the mother and father of the index case

From: Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

CHR SNP1 SNP2 POS1 POS2 KB NSNP DENSITY (KB/NSNP) PHOM PHET
1 rs6077208 rs773530539 21798208 23743698 1945.49 116 16.771 0.603 0.017
2 rs558321757 rs23253874 25050977 33764286 8713.30 236 36.920 0.674 0.038
2 rs773745425 rs83697568 178415694 180846743 2431.04 123 19.764 0.789 0.008
5 rs107007917 rs70038334 90719129 94953379 4234.25 151 28.041 0.314 0.508
6 rs7451498 rs9384046 148981394 153173999 4192.60 163 25.721 0.662 0.131
14 rs10134181 rs898927 92280037 98263147 5983.11 244 24.520 0.297 0.637
16 rs4785195 rs1004299 49932806 54343840 4411.03 129 34.194 0.676 0.180
16 rs990813 rs12596363 59070616 64124789 5054.17 117 43.198 0.088 0.124
  1. Bold font denotes ROH in which TTC37 is localized. All calculations were done using the VCF file obtained for the WES. Stringent quality control parameters were implemented before identity by decent (IBD) and ROH were calculated. Note that because of missing calls, PHOM + PHET < 1
  2. SNP1 start of the SNP segment, SNP2 end of the SNP segment, POS1 start of the physical position of the segment (base pair), POS2 end of the physical position of the segment (base pair), NSNP number of SNPs in the segment, KB physical length of the segment, PHOM proportion of sites homozygous, PHET proportion of sites heterozygous