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Table 3 Summary of results for related female patients assessed for X-skew using the internally developed NGS method in the proposed study and the clinical AR gene assay

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

Sample Name (Type)

X-skew results from the AR gene assay

X-skew results from NGS

Sample_10 (Proband_1)

Random

Skewed

Sample_9 (Mother_1)

Random

Random

Sample_3 (Maternal_aunt_1)

Skewed

Skewed