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# European Society of Human Genetics - European Human Genetics Conference - Berlin, Germany, 2020-06 | ||
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## Reproduce easily: analysis of matching tumor-normal NGS data with the Sarek workflow | ||
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Szilveszter Juhos, | ||
Maxime Garcia, | ||
Teresita Díaz de Ståhl, | ||
Markus Mayrhofer, | ||
Johanna Sandgren, | ||
Monica Nistér | ||
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### Introduction | ||
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High throughput sequencing for precision medicine is now a routine method. | ||
Numerous tools have to be used, and analysis is time consuming. | ||
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. | ||
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#### Materials and methods | ||
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Sarek is part of nf-core, a collection of peer-reviewed workflows; supported environments are Conda, Docker and Singularity. | ||
It is system-agnostic: can be used on single machines, clusters (HPC) or in a cloud such as AWS, with little difference between setups. | ||
Additional software can be included as new modules. | ||
Several model organism references are available (including Human GRCh37 and GRCh38). | ||
The pipeline reports germline and somatic SNVs and SVs (by HaplotypeCaller, Strelka, Mutect2, Manta and TIDDIT). | ||
CNVs, purity and ploidy is estimated by ASCAT and Control-FREEC. | ||
Furthermore, a broad set of QC metrics is reported at the end of the workflow with MultiQC. | ||
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#### Results | ||
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From FASTQs to annotated VCFs it takes three days for a 90X/90X sample on a 48 cores node. | ||
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. | ||
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#### Conclusions | ||
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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. | ||
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#### Supporting grants | ||
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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). |