Evidence map›Paper›PMID 33512800›Full record

ArticleClinical and translational gastroenterology2020

Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease.

Daniel J Mulder, Sam Khalouei, Neil Warner, Claudia Gonzaga-Jauregui, Peter C Church, Thomas D Walters, Arun K Ramani, Anne M Griffiths, Iris Cohn, Aleixo M Muise

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical and translational gastroenterology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

10 authors.

Daniel J MulderDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.
Sam KhaloueiCentre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Neil WarnerDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.
Claudia Gonzaga-JaureguiRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA; and.
Peter C ChurchDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.
Thomas D WaltersDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.
Arun K RamaniCentre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Anne M GriffithsDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.
Iris CohnDepartment of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Aleixo M MuiseDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada.

Funding

COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepositoryRC2DK118640 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI James Richard Goldenring, Izumi Kaji · 2019 to 2026
$14.8M
CIHRNIDDK NIH HHS RC2 DK118640
6 · The paper itself

Abstract

introductionWe hypothesized that variants within clinically relevant pharmacogenes could be identified using a whole exome sequencing data set derived from a cohort of more than 1,000 patients with inflammatory bowel disease (IBD).

methodsPediatric patients diagnosed with IBD underwent whole exome sequencing. We selected 18 genes with supporting literature where specific exonic variants would influence clinical care.

resultsWe identified actionable pharmacogenomic variants in 63% of patients. Importantly, 5% of patients with IBD were at risk for serious adverse effects from anesthesia and 3% were at increased risk for thrombosis. DISCUSSION: We identified exonic variants in most of our patients with IBD that directly impact clinical care.

Indexed as

Exome SequencingPharmacogenomic VariantsAdolescentAnesthesiaAnestheticsChildColitis, UlcerativeCrohn DiseaseDatasets as TopicFollow-Up StudiesGastrointestinal AgentsGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansRisk AssessmentThrombosisAnestheticsGastrointestinal Agents

Identifiers

PMID33512800
PMCPMC7710220

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.