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Pipeline References & Tools

References

This pipeline supports the human genome hg19 (GRCh37) and the mouse genome mm39 (GRCm39), using reference builds and annotations obtained from GENCODE.

hg19 (GRCh37) resources

Component File Source
Reference genome (FASTA) GRCh37.primary_assembly.genome.fa.gz ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_37/GRCh37_mapping/GRCh37.primary_assembly.genome.fa.gz
Gene annotation (GTF) gencode.v37lift37.annotation.gtf.gz ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_37/GRCh37_mapping/gencode.v37lift37.annotation.gtf.gz

ERCC spike-in sequences were added to this reference (FASTA concatenated and indices rebuilt accordingly).

mm39 (GRCm39) resources

Component File Source
Reference genome (FASTA) GRCm39.primary_assembly.genome.fa.gz https://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_mouse/release_M33/GRCm39.primary_assembly.genome.fa.gz
Gene annotation (GTF) gencode.vM33.primary_assembly.annotation.gtf.gz https://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_mouse/release_M33/gencode.vM33.primary_assembly.annotation.gtf.gz

Tools Used

Tool Version
Arriba 2.3.0
bwa 0.7.17-r1188
samtools 1.15.1
cnvkit 0.9.6
bedtools v2.27.1
Cutadapt 1.18
GATK 3.8-1-0-gf15c1c3ef
Fastqc v0.11.9
Fusioncatcher 1.33
GATK 3.8-1-0-gf15c1c3ef
bcftools 1.10.2
HLA-HD 1.7.0
Picard 2.27.4
Kraken 1.1.1
manta 1.6.0
multiqc 1.9
mutect 3.1-0-g72492bb
Nextflow 23.10.0
Optitype v1.3.1
GATK 3.8-1-0-gf15c1c3ef
samtools 1.10
RSEM v1.3.1
sequenza-utils 3.0.0
Snpsift 4.3t
python 3.9.5
yaml 5.4.1
STAR 2.7.10a
STAR-Fusion 1.11.1
strelka 2.9.10
vcftools 0.1.16
VEP 102.0
verifyBamID 1.1.3