RefgenDetector 2.0.0

refgenDetector

EGA - RefgenDetector

RefgenDetector is a bioinformatics tool that infers the reference genome assembly used during read alignment by analyzing file headers. It identifies major genome releases and derived assemblies across humans and multiple other species by analyzing contig names and lengths. Benchmarking against 94 synthetic datasets achieved a 100% accuracy rate, while large-scale testing on 918,404 real-world files demonstrated 97.13% correctness, failing only when files’ headers are incomplete.

Description

RefgenDetector is able to infer the following reference genomes:

Primates

👤 Homo sapiens

• hg16
• hg17
• hg18
• GRCh37
• GRCh38
• T2T

🐒 Pan troglodytes

• pantro3_0
• Pan_troglodytes-2.1

🐵 Macaca mulatta

• Mmul10
• rheMac8
• rheMac3

Rodents

🐭 Mus musculus

• mm7
• mm8
• mm9
• mm10
• mm39

🐀 Rattus norvegicus

• mRatBN7_2
• Rnor_6_0

Other Mammals

🐷 Sus scrofa

• Sscrofa10_2
• Sscrofa11_1

Vertebrates (Non-Mammalian)

🐟 Danio Rerio

• danRer10
• danRer11

Invertebrates

🪰 Drosophila Melanogaster

• dm5
• dm6

🐛 Caenorhabditis elegans

• WBcel215
• WBcel235

Microorganisms & Plants

🧫 Escherichia coli

• ASM886v2
• ASM584v2

🌱 Arabidopsis thaliana

• TAIR

🍺 Saccharomyces cerevisiae

• R64

Requirements

• Python 3.10.6

Depending on how you want to install the package:

• pip
• Docker

Installation

Cloning this repository

1. Clone this repository

2. $ cd PATH_WHERE_YOU_CLONED_THE_REPOSITORY/src/refgenDetector

3. $ python3 refgenDetector_main.py -h

From pypi

$ pip install refgenDetector

Docker

All the instructions to run refgenDetector in a Docker container can be found here.

Usage

You can get the help menu by running:

$ refgenDetector -h

usage: INFERRING THE REFERENCE GENOME USED TO ALIGN BAM OR CRAM FILE [-h] -p PATH -t {BAM/CRAM,Headers} [-m] [-a]

options:
  -h, --help            show this help message and exit
  -p PATH, --path PATH  Path to main txt. It will consist of paths to the files to be analyzed (one path per line).
  -t {BAM/CRAM,Headers}, --type {BAM/CRAM,Headers}
                        All the files in the txt provided in --path must be BAM/CRAMs or headers in a txt. 
                        Choose -t depending on the type of files you are going to analyze.
  -m, --md5             [OPTIONAL] If you want to obtain the md5 of the contigs present in the header, add --md5 to your command.
                        This will print the md5 values if the field M5 was present in your header.
  -a, --assembly        [OPTIONAL] If you want to obtain the assembly declared in the header add --assembly to your command. 
                        This will print the assembly if the field AS was present in your header.

In the main file (-p argument) you should add the paths to all the files you want to analyze. RefgenDetector works with complete BAM and CRAMs and with txt files containing only the headers. The txt can be uncompressed, gzip compressed, and with encodings utf-8 and iso-8859-1.

All the files included in this argument must be the same type, meaning, you should run RefgenDetector to analyze only BAM/CRAMs or only headers.

Test RefgenDetector

In the folder examples you can find headers, BAM and CRAMs to test the working of RefgenDetector.

All this files belong to the synthetics data cohort from the European Genome-Phenome Archive (EGA).

Test with headers in a TXT

In the folder TEST_HEADERS there are four headers obtained from synthetic BAM an CRAMs stored in the EGA. Each one of them belongs to a different synthetic study:

• Test Study for EGA using data from 1000 Genomes Project - Phase 3 EGAS00001005042.
• Synthetic data - Genome in a Bottle - EGAS00001005591.
• Human genomic and phenotypic synthetic data for the study of rare diseases - EGAS00001005702.
• CINECA synthetic data.Please note: This study contains synthetic data (with cohort “participants” / ”subjects” marked with FAKE) has no identifiable data and cannot be used to make any inference about cohort data or results - EGAS00001002472.

Further information about them can be found in the file where_to_find_this_files.txt, saved in the same folder.

To run RefgenDetector with the files:

1. Modify the txt path_to_headers so the paths match those in your computer.

2. Run:

   $ refgenDetector -p /PATH_WHERE_YOU_CLONED_THE_REPOSITORY/refgenDetector/examples/path_to_headers -t Headers

Test with BAM and CRAMs

In the folder TEST_BAM_CRAM there are a BAM and a CRAM obtained from synthetic BAM an CRAMs stored in the EGA. They belong to the synthetic study - Test Study for EGA using data from 1000 Genomes Project - Phase 3 EGAS00001005042.

Further information about them can be found in the file where_to_find_this_files.txt, saved in the same folder.

To run RefgenDetector with the files:

1. Modify the txt path_to_bam_cram so the paths match those in your computer.

2. Run:

   $ refgenDetector -p /PATH_WHERE_YOU_CLONED_THE_REPOSITORY/refgenDetector_pip-master/examples/path_to_bam_cram -t BAM/CRAM

Licence and funding

RefgenDetector is released under GNU General Public License v3.0.

It was funded by ELIXIR, the research infrastructure for life-science data (ELIXIR Beacon Implementation Studies 2019-2021 and 2022-2023).