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Table 2 Confusion matrix for comparison of X skew testing using the clinical AR gene assay and the internally developed NGS method outlined in the proposed study

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

Method

AR gene assay

Random

Skewed

Uninformative

NGS

Random

4

0

0

Skewed

1

5

1

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BMC Genomics

ISSN: 1471-2164

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