Evidence map›Paper›PMID 31316157›Full record

ArticleScientific reports2019

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data.

Alberto Romagnoni, Simon Jégou, Kristel Van Steen, Gilles Wainrib, Jean-Pierre Hugot, International Inflammatory Bowel Disease Genetics Consortium (IIBDGC)

Abstract readComparative Study
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing 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

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

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  10. How Artificial Intelligence Will Transform Clinical Care, Research, and Trials for Inflammatory Bowel Disease.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025
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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

6 authors.

Alberto RomagnoniCentre de recherche sur l'inflammation UMR 1149, Inserm - Université Paris Diderot, 75018, Paris, France.
Simon JégouOwkin, 75011, Paris, France.
Kristel Van SteenWELBIO, GIGA-R Medical Genomics - BIO3, University of Liège, Liège, Belgium.
Gilles WainribData Team, Département d'informatique de l'ENS, École normale supérieure, CNRS, PSL Research University, 75005, Paris, France.
Jean-Pierre HugotCentre de recherche sur l'inflammation UMR 1149, Inserm - Université Paris Diderot, 75018, Paris, France. jean-pierre.hugot@aphp.fr.
International Inflammatory Bowel Disease Genetics Consortium (IIBDGC)

Funding

IBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7M
NIDDK IBD Genetics Consortium Genetic Research CenterU01DK062420 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2002 to 2021
$7.8M
Replication of Association Signals Identified in Ulcerative Colitis GWASR01CA141743 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2009 to 2010
$600k
Medical Research Council MR/L010305/1NCI NIH HHS R01 CA141743NIDDK NIH HHS U01 DK062420NIDDK NIH HHS U01 DK062431
6 · The paper itself

Abstract

Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers.

Indexed as

Deep LearningGenome-Wide Association StudyGenotyping TechniquesAllelesArea Under CurveCrohn DiseaseDecision TreesFemaleGenetic Predisposition to DiseaseGenotypeHumansINDEL MutationLogistic ModelsMaleModels, GeneticNeural Networks, Computer

Identifiers

PMID31316157
PMCPMC6637191

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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.