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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