Table 1 Overview of features of the mobile element detection tools evaluated in this study.

From: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Tool

Type of readsa

Input

Output

ESb

Year, Reference

Source

ERVcaller

Discordant pairs + Split or clipped reads

FASTQ or BAM

VCF file

Yes

2019, 21

https://github.com/xunchen85/ERVcaller

MELT

Discordant pairs + Split or clipped reads

BAM (aligned with BWA) or CRAM

VCF file

Yes

2016, 14,16

https://melt.igs.umaryland.edu

Mobster

Discordant pairs + Split or clipped reads

BAM

Text file

Yes

2014, 17

https://github.com/jyhehir/mobster

SCRAMble

Split or clipped reads

BAM

VCF file

Yes

2020, 13

https://github.com/GeneDx/SCRAMble

TEMP2

Discordant pairs + Split or clipped reads

FASTQ or BAM

BED file

No

2021, 22

https://github.com/weng-lab/TEMP2

xTea

Discordant pairs + Split or clipped reads

BAM or CRAM

VCF file

Yes

2021, 23

https://github.com/parklab/xTea

  1. aType of reads used by the algorithm to detect MEIs in sequencing data.
  2. bThe ES column specifies whether the tool can be used for ES data as described by the author.
  3. Abbreviations: ES, exome sequencing; MEI, mobile element insertion.