Evidence map›Paper›PMID 29263831›Full record

ArticleNPJ genomic medicine2017

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

Iris Cohn, Tara A Paton, Christian R Marshall, Raveen Basran, Dimitri J Stavropoulos, Peter N Ray, Nasim Monfared, Robin Z Hayeems, M Stephen Meyn, Sarah Bowdin and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing 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

30 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Review
  6. Determination of the DuplicatedJournal of personalized medicine · 2023
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Pharmacogenetic Gene-Drug Associations in Pediatric Burn and Surgery Patients.Journal of burn care & research : official publication of the American Burn Association · 2022
    Article
  12. Article
  13. Article
  14. Drug-Drug-Gene Interactions in Cardiovascular Medicine.Pharmacogenomics and personalized medicine · 2022
    Review
  15. Article
  16. Article
  17. Review
  18. Review
  19. Article
  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

13 authors.

Iris Cohn *Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada M5G 1X8.
Tara A Paton *The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada M5G 0A4.
Christian R MarshallThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada M5G 0A4.
Raveen BasranDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON Canada M5G 1X8.
Dimitri J StavropoulosDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON Canada M5G 1X8.
Peter N RayThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada M5G 0A4.
Nasim MonfaredDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON Canada M5G 1X8.
Robin Z HayeemsCentre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON Canada M5G 1X8.
M Stephen MeynCentre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON Canada M5G 1X8.ORCID 0000-0001-6444-2607
Sarah BowdinCentre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON Canada M5G 1X8.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada M5G 0A4.
Ronald D CohnThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada M5G 0A4.
Shinya ItoDivision of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada M5G 1X8.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole-genome sequencing and whole-exome sequencing have proven valuable for diagnosing inherited diseases, particularly in children. However, usage of sequencing data as a pharmacogenetic screening tool to ensure medication safety and effectiveness remains to be explored. Sixty-seven variants in 19 genes with known effects on drug response were compared between genome sequencing and targeted genotyping data for coverage and concordance in 98 pediatric patients. We used targeted genotyping data as a benchmark to assess accuracy of variant calling, and to identify copy number variations of the

Identifiers

PMID29263831
PMCPMC5677914

What OpenQuestion holds

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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.