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| 1 | +# European Society of Human Genetics - European Human Genetics Conference - Berlin, Germany, 2020-06 |
| 2 | + |
| 3 | +## Reproduce easily: analysis of matching tumor-normal NGS data with the Sarek workflow |
| 4 | + |
| 5 | +Szilveszter Juhos, |
| 6 | +Maxime Garcia, |
| 7 | +Teresita Díaz de Ståhl, |
| 8 | +Markus Mayrhofer, |
| 9 | +Johanna Sandgren, |
| 10 | +Monica Nistér |
| 11 | + |
| 12 | +### Introduction |
| 13 | + |
| 14 | +High throughput sequencing for precision medicine is now a routine method. |
| 15 | +Numerous tools have to be used, and analysis is time consuming. |
| 16 | +We propose Sarek, an open-source container based bioinformatics workflow for germline or matching tumor-normal pairs, written in Nextflow, to process WGS, whole-exome or gene-panel samples. |
| 17 | + |
| 18 | +#### Materials and methods |
| 19 | + |
| 20 | +Sarek is part of nf-core, a collection of peer-reviewed workflows; supported environments are Conda, Docker and Singularity. |
| 21 | +It is system-agnostic: can be used on single machines, clusters (HPC) or in a cloud such as AWS, with little difference between setups. |
| 22 | +Additional software can be included as new modules. |
| 23 | +Several model organism references are available (including Human GRCh37 and GRCh38). |
| 24 | +The pipeline reports germline and somatic SNVs and SVs (by HaplotypeCaller, Strelka, Mutect2, Manta and TIDDIT). |
| 25 | +CNVs, purity and ploidy is estimated by ASCAT and Control-FREEC. |
| 26 | +Furthermore, a broad set of QC metrics is reported at the end of the workflow with MultiQC. |
| 27 | + |
| 28 | +#### Results |
| 29 | + |
| 30 | +From FASTQs to annotated VCFs it takes three days for a 90X/90X sample on a 48 cores node. |
| 31 | +Sarek is used in production at the National Genomics Infrastructure Sweden for germline and cancer samples for the Swedish Childhood Tumor Biobank and other research groups. |
| 32 | + |
| 33 | +#### Conclusions |
| 34 | + |
| 35 | +Sarek is an easy-to-use tool for germline or cancer NGS samples, to be downloaded from [nf-co.re/sarek](https://nf-co.re/sarek) under MIT license. |
| 36 | + |
| 37 | +#### Supporting grants |
| 38 | + |
| 39 | +Swedish Research Council (2017-00630, 2017-00656), the Swedish Childhood Cancer Fund (BTB: BB2017-0001; BB2018-0001; BB2019-0001), and the Knut and Alice Wallenberg Foundation (KAW 2014.0278). |
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