NIPT analysis pipeline
Project description
FluFFyPipe
NIPT analysis pipeline, using WisecondorX for detecting aneuplodies and large CNVs, AMYCNE for FFY and PREFACE for FF prediction (optional). FluFFYPipe produces a variety of output files, as well as a per batch csv summary.
Run FluFFyPipe
Run NIPT analysis:
fluffy --sample <samplesheet> --project <input_folder> --out <output_folder> analyse
optionally, skip preface:
fluffy --sample <samplesheet> --project <input_folder> --out <output_folder> --skip_preface analyse
All output will be written to the output folder, this output includes:
bam files
wisecondorX output
tiddit coverage summary
Fetal fraction estimation
as well as a summary csv (per batch)
the input folder is a project folder containing one folder per sample, each of these subfolders contain the fastq file(s). The samplesheet contains at least a "sampleID" column, the sampleID should match the subfolders in the input folder. The samplesheet may contain other columns, such as flowcell and index folder: such columns will be printed to the summary csv.
Create a WisecondorX reference
fluffy --sample <samplesheet> --project <input_folder> --out <output_folder> reference
samplesheet should contain atleast a "sampleID" column. All samples in the samplesheet will be used to construct the reference, visit the WisecondorX manual for more information.
Install FluFFyPipe
FluFFyPipe requires python 3, slurm, slurmpy, and singularity, python-coloredlogs.
First clone fluffypipe:
git clone https://github.com/Clinical-Genomics/fluffy
Install fluffy using pip
cd fluffy
pip install -e .
Next download the FluFFyPipe singularity container
singularity pull --name FluFFyPipe.sif shub://J35P312/FluFFyPipe
copy the example config (found in example_config), and edit the variables. You will need to download/create the following files:
Reference fasta (indexed using bwa)
WisecondorX reference files (created using the reference mode)
PREFACE model file (optional)
blacklist bed file (used by wisecondorX)
FluFFyPipe singularity collection (singularity pull --name FluFFyPipe.sif shub://J35P312/FluFFyPipe)
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