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Table 5 Comparison between allele specific methylation (ASM) analysis (column 5) using WGBS and percentage of significantly skewed variants in the validation cohort (column 4)

From: Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

Sample

GW

NGS

NGS_skew_PCT

ASM_PCT

Sample_1

skewed

skewed

73.04

40.29484029

Sample_2

skewed

skewed

22.49

29.29475588

Sample_3

skewed

skewed

46.31

38.02469136

Sample_5

skewed

skewed

40.8

33.16455696

Sample_7

random

random

2.35

0.829875519

Sample_8

random

random

8.2

4.781704782

Sample_9

random

random

2.94

5.527638191

Sample_11

random

random

2.6

2.017291066

Sample_10

random

skewed

18.3

7.973421927

Sample_14

UI

skewed

25.84

18.67088608