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Table 1 Features description

From: A machine learning framework for genotyping the structural variations with copy number variant

Description of Features

1

Abnormal read

The number of abnormal insert size read pairs

2

Normal read

The number of normal insert size read pairs

3

Incompletely mapped reads

The number of incompletely mapped read pairs

4

Fully mapped read

The number of read pairs that can fully mapped to the reference

5

Split mapped read

The number of split mapped reads

6

Single mapped read

The number of single mapped reads

7

Unmapped read

The number of the mutated region reads which comes from the Samtools

8

Mapping qualities

Sum of mapping qualities of anchor reads

9

Read depth

The read depth of the mutated region

10

Weighted read depth

The read depth of the mutated region weighted by mapping qualities

11

Extended weighted read depth

Extended the weighted read depth to up down 100 bps each

12

Affected read

The number of affected reads

13

Variant length

The length of structural variant

14

Direction 1

The number of reads which clipping from 5’ during initial mapping

15

Direction 2

The number of reads which clipping from 3’ during initial mapping