nanoinsight 0.0.3

Repeat annotation tool for insertions called by NanoVar

NanoINSight

NanoINSight is a repeat annotation tool for insertions called by NanoVar.

Installation:

Option 1: Using Pip

pip install nanoinsight

Option 2: Cloning from GitHub repository

git clone https://github.com/benoukraflab/nanoinsight.git
cd nanoinsight
pip install .

Installation of dependencies

1. MAFFT

Option 1: Conda

 conda install -c bioconda mafft

Option 2:

Please visit here to download the "without_extensions" source package and visit here for instructions to install.

• Please note that MAFFT source package with extnesions is not needed as it supports RNA structural alignments.
• Path of executable binary is needed. You can get it by typing "which mafft" in the terminal window.

2. RepeatMasker

Option 1: Conda

 conda install -c bioconda repeatmasker

Option 2:

Please visit here for instructions to install.

Run:

Option 1: Run with NanoVar command by adding the "--annotate_ins [species]" parameter

nanovar [Options] --annotate_ins human sample.fq/sample.bam ref.fa working_dir 

For more details: see NanoVar wiki

Option 2: Run via the command-line

nanoinsight [-h] [-v] [-q] [-t int] [-i path] [-u path] [-m path] [-r path] 
            [-s species] [VCF] [working_directory]

Example:
        nanoinsight -t 4 -s human sample.nanovar.pass.vcf ./work_dir

Required parameters:

Parameter	Description
-s	Specify species for repeatmasker (e.g. human)
[VCF]	Path to VCF input file
[working_directory]	Path to working directory

Additional Parameters:

Parameter	Description
-h	Show help message
-v	Show version
-q	hide verbose
-t	Number of threads to be used [1]
-i	Path to ins_seq.fa file (NanoVar output)
-u	Path to sv_support_reads.tsv file (NanoVar output)
-m	Path to mafft executable file
-r	Path to RepeatMasker executable file

Output:

Output	Description
.ins.con.fasta	fasta file of consensus sequences of insertions found in the VCF input file
rm_output	output directory of RepeatMasker

Citation:

If you use NanoINSight, please cite:

Authors:

• Asmaa Samy - AsmaaSamyMohamedMahmoud.
• Tham Cheng Yong - cytham.
• Touati Benoukraf - benoukraflab.