Evidence map›Paper›PMID 28092471›Full record

ReviewExpert review of molecular diagnostics2017

Genomics pipelines and data integration: challenges and opportunities in the research setting.

Jeremy Davis-Turak, Sean M Courtney, E Starr Hazard, W Bailey Glen, Willian A da Silveira, Timothy Wesselman, Larry P Harbin, Bethany J Wolf, Dongjun Chung, Gary Hardiman

Abstract readReview
In one paragraph

Review in Expert review of molecular diagnostics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.

0numbers the graph read from it
0cells of the map it votes in
48citing 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

48 citing papers in PubMed.

  1. Article
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  6. Review
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  10. Large Language Models for Non-Coding RNA Biomarker Discovery in Breast Cancer.Methods in molecular biology (Clifton, N.J.) · 2026
    Article
  11. Article
  12. Review
  13. Review
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  15. Next-Generation Sequencing (NGS): Platforms and Applications.Journal of pharmacy & bioallied sciences · 2024
    Review
  16. Review
  17. Review
  18. Article
  19. Article
  20. Review
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

10 authors.

Jeremy Davis-Turaka OnRamp Bioinformatics, Inc ., San Diego , CA.
Sean M Courtneyb MUSC Bioinformatics , Center for Genomics Medicine, Medical University of South Carolina (MUSC) , Charleston , SC.
E Starr Hazardb MUSC Bioinformatics , Center for Genomics Medicine, Medical University of South Carolina (MUSC) , Charleston , SC.
W Bailey Glenb MUSC Bioinformatics , Center for Genomics Medicine, Medical University of South Carolina (MUSC) , Charleston , SC.
Willian A da Silveirab MUSC Bioinformatics , Center for Genomics Medicine, Medical University of South Carolina (MUSC) , Charleston , SC.
Timothy Wesselmana OnRamp Bioinformatics, Inc ., San Diego , CA.
Larry P Harbine Department of Public Health Sciences , MUSC , Charleston , USA.
Bethany J Wolfe Department of Public Health Sciences , MUSC , Charleston , USA.
Dongjun Chunge Department of Public Health Sciences , MUSC , Charleston , USA.
Gary Hardimanb MUSC Bioinformatics , Center for Genomics Medicine, Medical University of South Carolina (MUSC) , Charleston , SC.

Funding

Resource CoreP30AR072582 · NIAMS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI JAMES C OATES · 2017 to 2026
$8.5M
Patient Resource CoreP60AR062755 · NIAMS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI GILKESON, GARY S · 2012 to 2016
$5.8M
Statistical Models for Genetic Studies, Using Network and Integrative AnalysisR01GM122078 · NIGMS · OHIO STATE UNIVERSITY · PI CHUNG, DONGJUN · 2016 to 2020
$1.9M
NIAMS NIH HHS P30 AR072582NIAMS NIH HHS P60 AR062755NIGMS NIH HHS R01 GM122078
6 · The paper itself

Abstract

introductionThe emergence and mass utilization of high-throughput (HT) technologies, including sequencing technologies (genomics) and mass spectrometry (proteomics, metabolomics, lipids), has allowed geneticists, biologists, and biostatisticians to bridge the gap between genotype and phenotype on a massive scale. These new technologies have brought rapid advances in our understanding of cell biology, evolutionary history, microbial environments, and are increasingly providing new insights and applications towards clinical care and personalized medicine. Areas covered: The very success of this industry also translates into daunting big data challenges for researchers and institutions that extend beyond the traditional academic focus of algorithms and tools. The main obstacles revolve around analysis provenance, data management of massive datasets, ease of use of software, interpretability and reproducibility of results. Expert commentary: The authors review the challenges associated with implementing bioinformatics best practices in a large-scale setting, and highlight the opportunity for establishing bioinformatics pipelines that incorporate data tracking and auditing, enabling greater consistency and reproducibility for basic research, translational or clinical settings.

Indexed as

Computational BiologyGenetic ResearchGenomicsanalysis provenancebioinformatics best practicesbioinformatics pipelinesExomeSeqgenomic data managementHigh throughput sequencingreproducible computational researchRNAseqvariant calling

Identifiers

PMID28092471
PMCPMC5580401

What OpenQuestion holds

Textmetadata
LicenceTDM
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.