Evidence map›Paper›PMID 25071867›Full record

ArticleBioData mining2014

Diverse convergent evidence in the genetic analysis of complex disease: coordinating omic, informatic, and experimental evidence to better identify and validate risk factors.

Timothy H Ciesielski, Sarah A Pendergrass, Marquitta J White, Nuri Kodaman, Rafal S Sobota, Minjun Huang, Jacquelaine Bartlett, Jing Li, Qinxin Pan, Jiang Gui and 5 more

Abstract read
In one paragraph

Article in BioData mining, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 3 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

23 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  3. Pooled it
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  18. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.American journal of respiratory and critical care medicine · 2018
    Article
  19. Transdisciplinary approaches enhance the production of translational knowledge.Translational research : the journal of laboratory and clinical medicine · 2017
    Review
  20. 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

15 authors.

Timothy H CiesielskiDepartment of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Sarah A Pendergrass *Center for Systems Genomics, Pennsylvania State University, University Park, PA 16802, USA.
Marquitta J White *Department of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Nuri Kodaman *Department of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Rafal S SobotaDepartment of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Minjun HuangDepartment of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Jacquelaine BartlettInstitute for Quantitative Biomedical Sciences, Dartmouth College, Hanover, NH 03755, USA.
Jing LiDepartment of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Qinxin PanDepartment of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Jiang GuiInstitute for Quantitative Biomedical Sciences, Dartmouth College, Hanover, NH 03755, USA.
Scott B SelleckDepartment of Biochemistry & Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
Christopher I AmosInstitute for Quantitative Biomedical Sciences, Dartmouth College, Hanover, NH 03755, USA.
Marylyn D RitchieCenter for Systems Genomics, Pennsylvania State University, University Park, PA 16802, USA.
Jason H MooreDepartment of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
Scott M WilliamsDepartment of Genetics, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.

Funding

Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Steven D Leach · 1985 to 2026
$91.3M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007347 · NIGMS · VANDERBILT UNIVERSITY · PI WILLIAMS, CHRISTOPHER S. · 1985 to 2023
$26.3M
Training Program on Genetic Variation and Human PhenotypesT32GM080178 · NIGMS · VANDERBILT UNIVERSITY · PI COX, NANCY J, SAMUELS, DAVID C · 2007 to 2021
$3.1M
NCI NIH HHS P30 CA023108NIGMS NIH HHS T32 GM007347NIGMS NIH HHS T32 GM080178
6 · The paper itself

Abstract

In omic research, such as genome wide association studies, researchers seek to repeat their results in other datasets to reduce false positive findings and thus provide evidence for the existence of true associations. Unfortunately this standard validation approach cannot completely eliminate false positive conclusions, and it can also mask many true associations that might otherwise advance our understanding of pathology. These issues beg the question: How can we increase the amount of knowledge gained from high throughput genetic data? To address this challenge, we present an approach that complements standard statistical validation methods by drawing attention to both potential false negative and false positive conclusions, as well as providing broad information for directing future research. The Diverse Convergent Evidence approach (DiCE) we propose integrates information from multiple sources (omics, informatics, and laboratory experiments) to estimate the strength of the available corroborating evidence supporting a given association. This process is designed to yield an evidence metric that has utility when etiologic heterogeneity, variable risk factor frequencies, and a variety of observational data imperfections might lead to false conclusions. We provide proof of principle examples in which DiCE identified strong evidence for associations that have established biological importance, when standard validation methods alone did not provide support. If used as an adjunct to standard validation methods this approach can leverage multiple distinct data types to improve genetic risk factor discovery/validation, promote effective science communication, and guide future research directions.

Indexed as

Complex diseaseFalse negativesFalse positivesGWASHeterogeneityOmicsReplicationType 1 errorType 2 errorValidation

Identifiers

PMID25071867
PMCPMC4112852

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.