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https://nf-co.re/sarek/usage v2.7.1

Data Type

Method

Output

Tried yet?

WES or WGS

DeepVariant

Germline SNV, INDEL

Yes

WES or WGS

TBD

Strelka, Mutect2, Freebayes (question)

Somatic SNV, INDEL

WES or WGS

TBD

Germline and Somatic Structural Variants

WES or WGS

TBD

Germline and Somatic CNV

WES or WGS

TBD

Tumor MSI

SNV, INDEL variants

TBD

Annotated Variants

https://nf-co.re/rnaseq v3.5

Data Type

Method

Output

Tried yet?

RNA-Seq

Salmon

pseudoalignment

Gene expression counts

Yes

WES Variant Calling (SNV & INDEL):

A.

...

Germline SNV + INDEL:

This involves transformation of WES fastq or cram files to variant call files in VCF format (.vcf files).

...

Code Block
nf-core/sarek	v2.7.1
Nextflow	v21.10.5
BWA	<span style="color:#999999;">N/A</span>0.7.17
GATK	v4.1.7.0
FreeBayes	v1.3.2
samtools	v1.9
Strelka	v2.9.10
Manta	v1.6.0
TIDDIT	v2.7.1
AlleleCount	v4.0.2
ASCAT	v2.5.2
Control-FREEC	vv11.6
msisensor	v0.5
SnpEff	v4.3t
VEP	v99.2
MultiQC	v1.8
FastQC	v0.11.9
bcftools	v1.9
CNVkit	v0.9.6
htslib	v1.9
QualiMap	v2.2.2-dev
Trim Galore	v0.6.4_dev
vcftools	v0.1.16
R	v4.0.2

Estimated costs for

...

germline variant calling (per 50 samples):

  • According to the DeepVariant docs, it costs about $1 per WES sample and $12 per WGS sample on Google Cloud using a n1-standard-16 machine (16 vCPUs, 60 GB of memory, $0.76/hour).

  • If we infer the run time from the costs and price per hour, it should be roughly 2 hours per WES sample and 16 hours per WGS sample.

  • More information here:

    Jira Legacy
    serverSystem JIRA
    serverIdba6fb084-9827-3160-8067-8ac7470f78b2
    keyWORKFLOWS-98

B. Somatic

...

SNV + INDEL:

TBD

C.

...

Annotated Variants:

Currently germ-line variant calls in VCF format are being processed manually using VEP and vcf2maf

...