Table 2 Transcriptome outliers detected in the METR-cohort

From: Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression

Type of outlier

Expression

Splicing

Allelic balance

Tissue

NSR

RPE

Shared

NSR

RPE

Shared

NSR

RPE

Shared

Unique events (count)

728

443

120

8610

8923

469

37,230

106,116

9888

Unique genes (count)

702

439

137

6095

6270

2972

7893

17,167

7410

Number of genes identified as outliers, per sample (median)

3

1

0

12

6

1

173

138

53.5

IQR (Q1, Q2)

(1, 4)

(0,2)

(0, 1)

(8,18)

(3, 24)

(0,2)

(146, 203)

(71, 1003)

(34, 87)

Range (min, max)

(0, 64)

(0, 46)

(0, 24)

(2, 1948)

(0, 1258)

(0, 209)

(102, 2823)

(14, 4308)

(8, 214)

  1. The DROP pipeline was utilised to identify three types of transcriptome outliers (expression, splicing and monoallelic expression) in the NSR and RPE.
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