Evidence map›Paper›PMID 29181145›Full record

ArticleJournal of healthcare engineering2017

The Impact of Diagnostic Code Misclassification on Optimizing the Experimental Design of Genetic Association Studies.

Steven J Schrodi

Abstract read
In one paragraph

Article in Journal of healthcare engineering, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. 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

1 author.

Steven J SchrodiCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, USA.ORCID 0000-0003-2304-8528

Funding

Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
Biological Determinants of Brain Variation in AutismR01MH097464 · NIMH · UNIVERSITY OF WISCONSIN-MADISON · PI LAINHART, JANET ELIZABETH, LANGE, NICHOLAS T · 2013 to 2017
$2.9M
NCATS NIH HHS UL1 TR000427NIMH NIH HHS R01 MH097464
6 · The paper itself

Abstract

Diagnostic codes within electronic health record systems can vary widely in accuracy. It has been noted that the number of instances of a particular diagnostic code monotonically increases with the accuracy of disease phenotype classification. As a growing number of health system databases become linked with genomic data, it is critically important to understand the effect of this misclassification on the power of genetic association studies. Here, I investigate the impact of this diagnostic code misclassification on the power of genetic association studies with the aim to better inform experimental designs using health informatics data. The trade-off between (i) reduced misclassification rates from utilizing additional instances of a diagnostic code per individual and (ii) the resulting smaller sample size is explored, and general rules are presented to improve experimental designs.

Indexed as

Genetic Association StudiesInternational Classification of DiseasesResearch DesignAllelesElectronic Health RecordsGenomicsHumansMachine LearningMedical InformaticsModels, StatisticalNormal DistributionPhenotypePredictive Value of TestsReproducibility of ResultsSample Size

Identifiers

PMID29181145
PMCPMC5664372

What OpenQuestion holds

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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.