Evidence map›Paper›PMID 32952600›Full record

ArticleComputational and mathematical methods in medicine2020

DeepVariant-on-Spark: Small-Scale Genome Analysis Using a Cloud-Based Computing Framework.

Po-Jung Huang, Jui-Huan Chang, Hou-Hsien Lin, Yu-Xuan Li, Chi-Ching Lee, Chung-Tsai Su, Yun-Lung Li, Ming-Tai Chang, Sid Weng, Wei-Hung Cheng and 2 more

Abstract readComparative Study
In one paragraph

Article in Computational and mathematical methods in medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Review
  9. 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.

Po-Jung HuangDepartment of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan.ORCID https://orcid.org/0000-0002-8728-8881
Jui-Huan ChangGraduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Hou-Hsien LinInstitute of Bioinformatics and Structural Biology, National Tsing Hua University, Hsinchu, Taiwan.
Yu-Xuan LiGraduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Chi-Ching LeeDepartment of Computer Science and Information Engineering, Chang Gung University, Taoyuan, Taiwan.ORCID https://orcid.org/0000-0003-2912-7745
Chung-Tsai SuDepartment of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan.
Yun-Lung LiDepartment of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan.
Ming-Tai ChangDepartment of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan.
Sid WengDepartment of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan.
Wei-Hung ChengDepartment of Parasitology, College of Medicine, Chang Gung University, Taoyuan, Taiwan.ORCID https://orcid.org/0000-0002-0100-7285
Cheng-Hsun ChiuGenomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou, Taiwan.ORCID https://orcid.org/0000-0003-4324-7743
Petrus TangGraduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan.ORCID https://orcid.org/0000-0002-2779-0116

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although sequencing a human genome has become affordable, identifying genetic variants from whole-genome sequence data is still a hurdle for researchers without adequate computing equipment or bioinformatics support. GATK is a gold standard method for the identification of genetic variants and has been widely used in genome projects and population genetic studies for many years. This was until the Google Brain team developed a new method, DeepVariant, which utilizes deep neural networks to construct an image classification model to identify genetic variants. However, the superior accuracy of DeepVariant comes at the cost of computational intensity, largely constraining its applications. Accordingly, we present DeepVariant-on-Spark to optimize resource allocation, enable multi-GPU support, and accelerate the processing of the DeepVariant pipeline. To make DeepVariant-on-Spark more accessible to everyone, we have deployed the DeepVariant-on-Spark to the Google Cloud Platform (GCP). Users can deploy DeepVariant-on-Spark on the GCP following our instruction within 20 minutes and start to analyze at least ten whole-genome sequencing datasets using free credits provided by the GCP. DeepVaraint-on-Spark is freely available for small-scale genome analysis using a cloud-based computing framework, which is suitable for pilot testing or preliminary study, while reserving the flexibility and scalability for large-scale sequencing projects.

Indexed as

Cloud ComputingDeep LearningGenetic VariationComputational BiologyCost-Benefit AnalysisGenome, HumanHigh-Throughput Nucleotide SequencingHumansNeural Networks, ComputerSoftwareWhole Genome Sequencing

Identifiers

PMID32952600
PMCPMC7481958

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.