Evidence map›Paper›PMID 31287816›Full record

ArticlePloS one2019

Managing genomic variant calling workflows with Swift/T.

Azza E Ahmed, Jacob Heldenbrand, Yan Asmann, Faisal M Fadlelmola, Daniel S Katz, Katherine Kendig, Matthew C Kendzior, Tiffany Li, Yingxue Ren, Elliott Rodriguez and 4 more

Abstract read
In one paragraph

Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
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.

Azza E AhmedCentre for Bioinformatics & Systems Biology, Faculty of Science, University of Khartoum, Khartoum, Sudan.
Jacob HeldenbrandNational Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.
Yan AsmannDepartment of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, United States of America.
Faisal M FadlelmolaCentre for Bioinformatics & Systems Biology, Faculty of Science, University of Khartoum, Khartoum, Sudan.
Daniel S KatzNational Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.ORCID 0000-0001-5934-7525
Katherine KendigNational Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.
Matthew C KendziorDepartment of Crop Sciences, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.
Tiffany LiNational Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.
Yingxue RenDepartment of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, United States of America.
Elliott RodriguezNational Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.
Matthew R WeberDepartment of Crop Sciences, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.
Justin M WozniakArgonne National Laboratory, Argonne, Illinois, United States of America.
Jennie ZermenoNational Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.
Liudmila S MainzerNational Center for Supercomputing Applications, University of Illinois at Urbana-Champaign, Urbana-Champaign, Illinois, United States of America.ORCID 0000-0001-7121-0214

Funding

H3ABioNet: a sustainable African Bioinformatics Network for H3AfricaU41HG006941 · NHGRI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA · 2012 to 2017
$14.8M
NHGRI NIH HHS U41 HG006941
6 · The paper itself

Abstract

Bioinformatics research is frequently performed using complex workflows with multiple steps, fans, merges, and conditionals. This complexity makes management of the workflow difficult on a computer cluster, especially when running in parallel on large batches of data: hundreds or thousands of samples at a time. Scientific workflow management systems could help with that. Many are now being proposed, but is there yet the "best" workflow management system for bioinformatics? Such a system would need to satisfy numerous, sometimes conflicting requirements: from ease of use, to seamless deployment at peta- and exa-scale, and portability to the cloud. We evaluated Swift/T as a candidate for such role by implementing a primary genomic variant calling workflow in the Swift/T language, focusing on workflow management, performance and scalability issues that arise from production-grade big data genomic analyses. In the process we introduced novel features into the language, which are now part of its open repository. Additionally, we formalized a set of design criteria for quality, robust, maintainable workflows that must function at-scale in a production setting, such as a large genomic sequencing facility or a major hospital system. The use of Swift/T conveys two key advantages. (1) It operates transparently in multiple cluster scheduling environments (PBS Torque, SLURM, Cray aprun environment, etc.), thus a single workflow is trivially portable across numerous clusters. (2) The leaf functions of Swift/T permit developers to easily swap executables in and out of the workflow, which makes it easy to maintain and to request resources optimal for each stage of the pipeline. While Swift/T's data-level parallelism eliminates the need to code parallel analysis of multiple samples, it does make debugging more difficult, as is common for implicitly parallel code. Nonetheless, the language gives users a powerful and portable way to scale up analyses in many computing architectures. The code for our implementation of a variant calling workflow using Swift/T can be found on GitHub at https://github.com/ncsa/Swift-T-Variant-Calling, with full documentation provided at http://swift-t-variant-calling.readthedocs.io/en/latest/.

Indexed as

Computational BiologyGenomicsSoftwareAnimalsHumansWorkflow

Identifiers

PMID31287816
PMCPMC6615596

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.