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Hybrid approach for detection of Insertions and Deletions from NGS data

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HyINDEL

Build Status Cpp Standard

Installation

Requirements

Tested with GCC (minimum tested version 4.9.2 check using gcc -v), C++11 support required

git clone --recursive https://github.com/alok123t/HyINDEL.git
cd HyINDEL && mkdir -p build && cd build
# with root access
cmake .. && make -j 4 install

# without root access, install in a local directory
# Executable path will be /path/to/install/dir/bin/HyINDEL
mkdir -p /path/to/install/dir
cmake .. -DCMAKE_INSTALL_PREFIX=/path/to/install/dir && make -j 4 install

Note:

  • Make sure paths to minia, minimap2, mosdepth and samtools are on PATH, otherwise write the absolute paths before installation in scripts/Assemble.sh, scripts/Pre.sh and scripts/Post.sh
  • Will install/replace bamtools if already present in installation directory

Usage

HyINDEL --help

Test Example

HyINDEL -i ../test/input.bam -o ../test/output -r ../test/ref.fa -s 350 -d 20 -l 100 -c 30 -t 4

Compare output with file test/expected-output.vcf

Input/Output

  • Input file: Coordinate sorted BAM file with index (.bai)
  • Output file: output.vcf in output directory

Output directory will be created, if it doesn't exist

Parameters

Options Short Options Long Description Attributes Mandatory
-i PATH --inp=PATH Input File Path
  • yes
-o PATH --out=PATH Output Folder Path
  • yes
-s VAL --insSz=VAL Insert Size Integer
  • yes
-d VAL --stdDev=VAL Standard Deviation Integer
  • yes
-l VAL --readLen=VAL Read Length Integer
  • yes
-c VAL --cov=VAL Coverage Integer
  • yes
-t VAL --threads=VAL Threads Integer
  • no

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Hybrid approach for detection of Insertions and Deletions from NGS data

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