Evidence map›Paper›PMID 36402955›Full record

ArticleBMC bioinformatics2022

H3AGWAS: a portable workflow for genome wide association studies.

Jean-Tristan Brandenburg, Lindsay Clark, Gerrit Botha, Sumir Panji, Shakuntala Baichoo, Christopher Fields, Scott Hazelhurst

Abstract read
In one paragraph

Article in BMC bioinformatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
–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

9 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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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

7 authors.

Jean-Tristan BrandenburgSydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa. jean-tristan.brandenburg@wits.ac.za.ORCID http://orcid.org/0000-0003-0197-2648
Lindsay ClarkHPCBio, Roy J. Carver Biotechnology Center, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
Gerrit BothaComputational Biology Division, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.
Sumir PanjiComputational Biology Division, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.
Shakuntala BaichooDepartment of Digital Technologies, Faculty of Information, Communication and Digital Technologies, University of Mauritius, Moka, Mauritius.
Christopher FieldsHPCBio, Roy J. Carver Biotechnology Center, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
Scott HazelhurstSydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.

Funding

H3ABioNet: informatics solutions for H3AfricaU24HG006941 · NHGRI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA · 2017 to 2021
$12.9M
Shared Core: Biobanking, Bioinformatics and Data ManagementU54HG006938 · NHGRI · WITS HEALTH CONSORTIUM (PTY), LTD · PI RAMSAY, MICHELE MICHELE · 2012 to 2022
$12.2M
NHGRI NIH HHS U24 HG006941NHGRI NIH HHS U24HG006941NHGRI NIH HHS U54 HG006938NHGRI NIH HHS U54HG006938
6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWAS) are a powerful method to detect associations between variants and phenotypes. A GWAS requires several complex computations with large data sets, and many steps may need to be repeated with varying parameters. Manual running of these analyses can be tedious, error-prone and hard to reproduce.

resultsThe H3AGWAS workflow from the Pan-African Bioinformatics Network for H3Africa is a powerful, scalable and portable workflow implementing pre-association analysis, implementation of various association testing methods and post-association analysis of results.

conclusionsThe workflow is scalable-laptop to cluster to cloud (e.g., SLURM, AWS Batch, Azure). All required software is containerised and can run under Docker or Singularity.

Indexed as

Computational BiologyGenome-Wide Association StudyPhenotypeSoftwareWorkflowAssociation testingDockerGenome-wide association studyNextflowPipelinePost-association analysisQuality controlSingularityWorkflow

Identifiers

PMID36402955
PMCPMC9675212

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.