Table 1 Model performance in assessing the effects of SVs on gene expression (Spearman R)

From: Quantifying the regulatory potential of genetic variants via a hybrid sequence-oriented model with SVEN

SV type

Number of SV-gene pair

SVEN

Enformer

All

94,366 (61,811)

0.921 (0.907)

0.841 (0.786)

Insertion

31,352 (20,360)

0.921 (0.910)

0.841 (0.785)

MEI

2109 (1401)

0.928 (0.915)

0.869 (0.810)

Deletion

36,450 (24,186)

0.923 (0.905)

0.844 (0.785)

Duplication

8671 (5805)

0.923 (0.909)

0.839 (0.792)

Inversion duplication

88 (62)

0.923 (0.899)

0.846 (0.794)

Complex

15,696 (9997)

0.914 (0.903)

0.831 (0.785)

  1. Numbers in bracket are results after removal of unexpressed genes.