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numbat-nf

A bioinformatic workflow to call copy number variants reconstruct cell phylogenies from single-cell or spatial transcriptomics data

Description

This is a workflow in nextflow to preprocess and use the numbat software for the analysis of single-cell or spatial transcromics data to study Copy number variations (CNVs).

Dependencies

  1. This pipeline is based on nextflow. As we have several nextflow pipelines, we have centralized the common information in the IARC-nf repository. Please read it carefully as it contains essential information for the installation, basic usage and configuration of nextflow and our pipelines.
  2. External software:

You can avoid installing all the external software by only installing Docker, and downloading the numbat docker file. See the IARC-nf repository for more information.

Input

TypeDescription
input_fileTab-separated file with columns ID (sample ID), matrix_folder (cellranger output folder with expression matrix .mtx, barcode, and features files), and bam (alignment files)

Parameters

NameExample valueDescription
--gmap/Eagle_v2.4.1/tables/genetic_map_hg38_withX.txt.gzPath to genetic map provided by Eagle2
--eagleeaglePath to Eagle2 binary file
--snpvcf/data/genome1K.phase3.SNP_AF5e2.chr1toX.hg38.vcfSNP VCF for pileup (e.g. genome1K.phase3.SNP_AF5e2.chr1toX.hg38.vcf)
--paneldir/data/1000G_hg38Directory to phasing reference panel (e.g. 1000G_hg38)

All these files can be downloaded from the numbat website, or are contained in the numbat docker container (note: the default paths correspond to the location within the docker container).

NameDefault valueDescription
--ncores8Number of cores to use.
--mem10Memmory (in Gb) to use.

Usage

nextflow run script_nf.nf --input_file input.tsv [--OPTIONS] OPTION

Contributions

NameEmailDescription
Nicolas Alcala*alcalan@iarc.who.intDeveloper to contact for support
Yanis Sindt-BaretDeveloper
Quentin OhayonDeveloper
Natacha DoutreleaDeveloper
Claire BerthaudDeveloper

FAQ

Prerequisites

To work, the bam file needs to come with its index file (.bai); if necessary, it can be generated using the command: samtools index -b BAME_FILE.bam