Evidence map›Paper›PMID 29762754›Full record

ArticleGigaScience2018

Optimized distributed systems achieve significant performance improvement on sorted merging of massive VCF files.

Xiaobo Sun, Jingjing Gao, Peng Jin, Celeste Eng, Esteban G Burchard, Terri H Beaty, Ingo Ruczinski, Rasika A Mathias, Kathleen Barnes, Fusheng Wang and 2 more

Abstract read
In one paragraph

Article in GigaScience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Cloud-native distributed genomic pileup operations.Bioinformatics (Oxford, England) · 2023
    Article
  2. 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

12 authors.

Xiaobo SunDepartment of Computer Sciences, Emory University, Atlanta, GA 30322, USA.
Jingjing GaoDepartment of Medical Informatics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Peng JinDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Celeste EngDepartment of Medicine, University of California, San Francisco, San Francisco, CA 94143 USA.
Esteban G BurchardDepartment of Medicine, University of California, San Francisco, San Francisco, CA 94143 USA.
Terri H BeatyDepartment of Epidemiology, Bloomberg School of Public Health, JHU, Baltimore, MD 21205 USA.
Ingo RuczinskiDepartment of Biostatistics, Bloomberg School of Public Health, JHU, Baltimore, MD 21205 USA.
Rasika A MathiasDepartment of Medicine, Johns Hopkins University, Baltimore, MD 21224 USA.
Kathleen BarnesDepartment of Medicine, University of Colorado, Denver, Aurora, CO, 80045 USA.
Fusheng WangDepartment of Biomedical Informatics, Stony Brook University, Stony Brook, NY 11794, USA.
Zhaohui S QinDepartment of Medical Informatics, Emory University School of Medicine, Atlanta, GA 30322, USA.
CAAPA consortium

Funding

Tracking and Evaluation CoreU54GM115428 · NIGMS · UNIVERSITY OF MISSISSIPPI MED CTR · PI GRANGER, JOEY P. · 2016 to 2025
$38.2M
New Approaches for Empowering Studies of Asthma in Populations of African DescentR01HL104608 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, KENNY, EIMEAR ELIZABETH · 2011 to 2022
$23.1M
Molecular Basis of rCGG-Mediated NeurodegenerationR01NS051630 · NINDS · EMORY UNIVERSITY · PI NELSON, DAVID LOREN · 2006 to 2023
$9.8M
The Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with AsthmaR01HL117004 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, SEIBOLD, MAX A · 2013 to 2022
$9.3M
Recruitment CoreU54NS091859 · NINDS · EMORY UNIVERSITY · PI WARREN, STEPHEN T. · 2014 to 2019
$9.1M
Social Interventions to address disparities In young adult tobacco useP60MD006902 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LING, PAMELA MAY · 2012 to 2016
$6.4M
Gene-environments and Admixture in Latino Asthmatics (GALA 2)R01ES015794 · NIEHS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BURCHARD, ESTEBAN GONZALEZ · 2008 to 2012
$5.4M
SF BUILD: Enabling Students to Represent in ScienceRL5GM118984 · NIGMS · SAN FRANCISCO STATE UNIVERSITY · PI MARQUEZ-MAGANA, LETICIA MARIA, MORRIS, MEGHAN D · 2015 to 2023
$5.2M
Translational models of neurodevelopmental epigenetics and disease using human iPSCsP01NS097206 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI HE, CHUAN · 2016 to 2020
$4.3M
Transcriptomic and Pharmacogenetic Asthma Endotypes in Minority ChildrenR01HL135156 · NHLBI · NATIONAL JEWISH HEALTH · PI SEIBOLD, MAX A, ZIV, ELAD · 2017 to 2021
$4.1M
Genes, air pollution, and asthma severity in minority childrenR01MD010443 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SEIBOLD, MAX A, ZIV, ELAD · 2016 to 2020
$3.8M
Genetic Control of Airway Epithelium Gene Expression in Childhood AsthmaticsR01HL128439 · NHLBI · NATIONAL JEWISH HEALTH · PI SEIBOLD, MAX A · 2015 to 2019
$3.1M
NHLBI NIH HHS R01 HL104608NHLBI NIH HHS R01 HL117004NHLBI NIH HHS R01 HL128439NHLBI NIH HHS R01 HL135156NIEHS NIH HHS R01 ES015794NIEHS NIH HHS R21 ES024844NIGMS NIH HHS RL5 GM118984NIGMS NIH HHS U54 GM115428NIMHD NIH HHS P60 MD006902NIMHD NIH HHS R01 MD010443NINDS NIH HHS P01 NS097206NINDS NIH HHS R01 NS051630NINDS NIH HHS U54 NS091859
6 · The paper itself

Abstract

Background: Sorted merging of genomic data is a common data operation necessary in many sequencing-based studies. It involves sorting and merging genomic data from different subjects by their genomic locations. In particular, merging a large number of variant call format (VCF) files is frequently required in large-scale whole-genome sequencing or whole-exome sequencing projects. Traditional single-machine based methods become increasingly inefficient when processing large numbers of files due to the excessive computation time and Input/Output bottleneck. Distributed systems and more recent cloud-based systems offer an attractive solution. However, carefully designed and optimized workflow patterns and execution plans (schemas) are required to take full advantage of the increased computing power while overcoming bottlenecks to achieve high performance. Findings: In this study, we custom-design optimized schemas for three Apache big data platforms, Hadoop (MapReduce), HBase, and Spark, to perform sorted merging of a large number of VCF files. These schemas all adopt the divide-and-conquer strategy to split the merging job into sequential phases/stages consisting of subtasks that are conquered in an ordered, parallel, and bottleneck-free way. In two illustrating examples, we test the performance of our schemas on merging multiple VCF files into either a single TPED or a single VCF file, which are benchmarked with the traditional single/parallel multiway-merge methods, message passing interface (MPI)-based high-performance computing (HPC) implementation, and the popular VCFTools. Conclusions: Our experiments suggest all three schemas either deliver a significant improvement in efficiency or render much better strong and weak scalabilities over traditional methods. Our findings provide generalized scalable schemas for performing sorted merging on genetics and genomics data using these Apache distributed systems.

Indexed as

Computer Communication NetworksInformation Storage and RetrievalSoftwareCluster AnalysisHumansWorkflow

Identifiers

PMID29762754
PMCPMC6007233

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.