Evidence map›Paper›PMID 32269765›Full record

ArticleF1000Research2020

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.

Maxime Garcia, Szilveszter Juhos, Malin Larsson, Pall I Olason, Marcel Martin, Jesper Eisfeldt, Sebastian DiLorenzo, Johanna Sandgren, Teresita Díaz De Ståhl, Philip Ewels and 4 more

Abstract read
In one paragraph

Article in F1000Research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers.

0numbers the graph read from it
0cells of the map it votes in
185citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

185 citing papers in PubMed.

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  8. Exome sequencing points to pathogenic ATM variants in gastric cancer.European journal of human genetics : EJHG · 2026
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  10. Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.Progress in neuro-psychopharmacology & biological psychiatry · 2026
    Article
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125 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Maxime Garcia *Department of Oncology-Pathology, Karolinska Institutet, J5:30 BioClinicum, Visionsgatan 4, Karolinska University Hospital at Solna, Solna, 17164, Sweden.ORCID 0000-0003-2827-9261
Szilveszter Juhos *Department of Oncology-Pathology, Karolinska Institutet, J5:30 BioClinicum, Visionsgatan 4, Karolinska University Hospital at Solna, Solna, 17164, Sweden.
Malin LarssonDepartment of Physics, Chemistry and Biology, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Linköping University, Linköping, 58183, Sweden.
Pall I OlasonDepartment of Cell and Molecular Biology, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Uppsala University, Husargatan 3, Uppsala, 752 37, Sweden.
Marcel MartinDepartment of Biochemistry and Biophysics, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Stockholm University, Box 1031, Solna, 17121, Sweden.ORCID 0000-0002-0680-200X
Jesper EisfeldtClinical Genetics, Department of Molecular Medicine and Surgery, Karolinska Institutet, MMK L1:00, Karolinska University Hospital at Solna, Stockholm, 171 76, Sweden.ORCID 0000-0003-3716-4917
Sebastian DiLorenzoDepartment of Medical Sciences, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Uppsala University, Husargatan 3, Uppsala, 752 37, Sweden.
Johanna SandgrenDepartment of Oncology-Pathology, Karolinska Institutet, J5:30 BioClinicum, Visionsgatan 4, Karolinska University Hospital at Solna, Solna, 17164, Sweden.
Teresita Díaz De StåhlDepartment of Oncology-Pathology, Karolinska Institutet, J5:30 BioClinicum, Visionsgatan 4, Karolinska University Hospital at Solna, Solna, 17164, Sweden.
Philip EwelsDepartment of Biochemistry and Biophysics, Science for Life Laboratory, Stockholm University, Box 1031, Solna, 17121, Sweden.ORCID 0000-0003-4101-2502
Valtteri WirtaDepartment of Microbiology, Tumor and Cell Biology, Clinical Genomics Facility, Science for Life Laboratory, Karolinska Institutet, Box 1031, Solna, 171 21, Sweden.
Monica NistérDepartment of Oncology-Pathology, Karolinska Institutet, J5:30 BioClinicum, Visionsgatan 4, Karolinska University Hospital at Solna, Solna, 17164, Sweden.ORCID 0000-0002-1261-3790
Max KällerSchool of Engineering Sciences in Chemistry, Biotechnology and Health, Science for Life Laboratory, KTH Royal Institute of Technology, Box 1031, Solna, 17121, Sweden.
Björn NystedtDepartment of Cell and Molecular Biology, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Uppsala University, Husargatan 3, Uppsala, 752 37, Sweden.ORCID 0000-0001-7809-7664

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows for WGS analyses poses a major challenge for many research groups and hampers scientific progress. Here we present Sarek, an open-source workflow to detect germline variants and somatic mutations based on sequencing data from WGS, whole-exome sequencing (WES), or gene panels. Sarek features (i) easy installation, (ii) robust portability across different computer environments, (iii) comprehensive documentation, (iv) transparent and easy-to-read code, and (v) extensive quality metrics reporting. Sarek is implemented in the Nextflow workflow language and supports both Docker and Singularity containers as well as Conda environments, making it ideal for easy deployment on any POSIX-compatible computers and cloud compute environments. Sarek follows the GATK best-practice recommendations for read alignment and pre-processing, and includes a wide range of software for the identification and annotation of germline and somatic single-nucleotide variants, insertion and deletion variants, structural variants, tumour sample purity, and variations in ploidy and copy number. Sarek offers easy, efficient, and reproducible WGS analyses, and can readily be used both as a production workflow at sequencing facilities and as a powerful stand-alone tool for individual research groups. The Sarek source code, documentation and installation instructions are freely available at https://github.com/nf-core/sarek and at https://nf-co.re/sarek/.

Indexed as

Germ CellsSoftwareWorkflowHumansWhole Genome SequencingAnalysis workflowCancerGermline variantsSomatic variantsWhole Genome Sequencing

Identifiers

PMID32269765
PMCPMC7111497

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.