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Merge pull request #115 from MaxUlysse/Abstract
Add abstract
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CHANGELOG.md

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- [#76](https://github.com/nf-core/sarek/pull/76) - Add `GATK Spark` possibilities to Sarek
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- [#87](https://github.com/nf-core/sarek/pull/87) - Add `GATK BaseRecalibrator` plot to `MultiQC` report
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- [#115](https://github.com/nf-core/sarek/pull/115) - Add [@szilvajuhos](https://github.com/szilvajuhos) abstract for ESHG2020
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docs/abstracts/2020-06-ESHG.md

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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,
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Maxime Garcia,
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Teresita Díaz de Ståhl,
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Markus Mayrhofer,
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Johanna Sandgren,
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Monica Nistér
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### Introduction
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High throughput sequencing for precision medicine is now a routine method.
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Numerous tools have to be used, and analysis is time consuming.
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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.
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It is system-agnostic: can be used on single machines, clusters (HPC) or in a cloud such as AWS, with little difference between setups.
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Additional software can be included as new modules.
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Several model organism references are available (including Human GRCh37 and GRCh38).
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The pipeline reports germline and somatic SNVs and SVs (by HaplotypeCaller, Strelka, Mutect2, Manta and TIDDIT).
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CNVs, purity and ploidy is estimated by ASCAT and Control-FREEC.
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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.
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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).

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