[![Sarek](https://maxulysse.github.io/assets/img/svg/nf-core_sarek_logo.svg "Sarek")](https://nf-co.re/sarek) ## a workflow to detect germline and somatic mutations in WGS/WES
Maxime Garcia / [
@gau](https://twitter.com/gau) / [
@MaxUlysse](https://github.com/MaxUlysse) [
maxulysse.github.io/vcbs2020](https://maxulysse.github.io/vcbs2020) [The Swedish Childhood Tumor Biobank](https://ki.se/forskning/barntumorbanken) / [National Genomics Infrastructure](https://ngisweden.scilifelab.se/) [Victorian Cancer Bioinformatics Symposium 2020](http://viccancerbioinfsymposium.org/), Victoria, Australia [virtual] - 2020/10/28
--- [![Nextflow](https://maxulysse.github.io/assets/img/slides/nextflow.png "Nextflow")](https://www.nextflow.io/) * Workflow manager * Data driven language * Portable * executable on multiple platforms * Shareable and reproducible * with containers or virtual environments * `Docker`, `Singularity` or `conda` --- [![Sarek](https://maxulysse.github.io/assets/img/svg/nf-core_sarek_logo.svg "Sarek")](https://nf-co.re/sarek) * Open-Source [Nextflow](https://www.nextflow.io/) Pipeline * Started at [SciLifeLab](https://scilifelab.se/) * [National Genomics Infrastructure](https://ngisweden.scilifelab.se/) * [National Bioinformatics Infrastructure Sweden](https://www.nbis.se/) * Support from [The Swedish Childhood Tumor Biobank](https://ki.se/forskning/barntumorbanken) * Part of the [nf-core](https://nf-core) community * Support from [QBiC](https://qbic.life) --- ## Workflow [![Sarek Workflow](https://maxulysse.github.io/assets/img/svg/sarek_workflow_2.6.1.svg "Sarek Workflow 2.6.1")](https://github.com/nf-core/sarek/releases/tag/2.6.1) --- ## Try it now [Quick start guide](https://nf-co.re/sarek/dev#quick-start) On your own computer with test data: ```bash curl -s https://get.nextflow.io | bash nextflow run nf-core/sarek -r 2.6.1 -profile docker,test ``` Start your own analysis: ```bash nextflow run nf-core/sarek -r 2.6.1 -profile docker --input sample.tsv --genome GRCh38 ``` --- ## What is coming soon * DSL 2 ([dsl2](https://github.com/nf-core/sarek/tree/dsl2)) with [@ggabernet](https://github.com/ggabernet) and [@FriederikeHanssen](https://github.com/FriederikeHanssen) * Validation tests * More tools * Sub-workflows for specific usage * Improved cloud usage * Improved usage for non-model organism * Joint Variant Calling * More downstream processing of the final vcf files --- ## Publication in F1000Research Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants [version 2; peer review: 2 approved]
Maxime Garcia, Szilveszter Juhos, Malin Larsson, Pall I. Olason, Marcel Martin, Jesper Eisfeldt, Sebastian DiLorenzo, Johanna Sandgren, Teresita Díaz De Ståhl, Philip Ewels, Valtteri Wirta, Monica Nistér, Max Käller, Björn Nystedt
[
doi.org/10.12688/f1000research.16665.2](https://doi.org/10.12688/f1000research.16665.2) --- ## Get involved * Our code is hosted on Github * [
github.com/nf-core](https://github.com/nf-core) * [
github.com/nf-core/sarek](https://github.com/nf-core/sarek) * We have slack * [
nfcore.slack.com](https://nfcore.slack.com/) * [
nfcore.slack.com/channels/sarek](https://nfcore.slack.com/channels/sarek) ---
---
## Any questions * [
nf-co.re](https://nf-co.re) * [
github.com/nf-core](https://github.com/nf-core) * [
nf-co.re/sarek](https://nf-co.re/sarek) * [
github.com/nf-core/sarek](https://github.com/nf-core/sarek) * [
nfcore.slack.com/channels/sarek](https://nfcore.slack.com/channels/sarek)