Evidence map›Paper›PMID 36901988›Full record

ArticleInternational journal of molecular sciences2023

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models.

Geon Kang, Seung-Hak Baek, Young Ho Kim, Dong-Hyun Kim, Ji Wan Park

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Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Review
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  4. Article
  5. Review
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  7. Article
  8. Management of orofacial clefts in times of artificial intelligence: advances and challenges.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2024
    Article
  9. Review
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

5 authors.

Geon KangDepartment of Medical Genetics, College of Medicine, Hallym University, Chuncheon 24252, Republic of Korea.
Seung-Hak BaekDepartment of Orthodontics, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea.
Young Ho KimDepartment of Orthodontics, The Institute of Oral Health Science, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul 06351, Republic of Korea.
Dong-Hyun KimDepartment of Social and Preventive Medicine, College of Medicine, Hallym University, Chuncheon 24252, Republic of Korea.ORCID 0000-0002-1492-5253
Ji Wan ParkDepartment of Medical Genetics, College of Medicine, Hallym University, Chuncheon 24252, Republic of Korea.ORCID 0000-0003-0840-1696

Funding

Hallym University HRF-2017112021R1F1A1059803-015National Research Foundation of Korea 2021R1F1A1059803
6 · The paper itself

Abstract

Recent deep learning algorithms have further improved risk classification capabilities. However, an appropriate feature selection method is required to overcome dimensionality issues in population-based genetic studies. In this Korean case-control study of nonsyndromic cleft lip with or without cleft palate (NSCL/P), we compared the predictive performance of models that were developed by using the genetic-algorithm-optimized neural networks ensemble (GANNE) technique with those models that were generated by eight conventional risk classification methods, including polygenic risk score (PRS), random forest (RF), support vector machine (SVM), extreme gradient boosting (XGBoost), and deep-learning-based artificial neural network (ANN). GANNE, which is capable of automatic input SNP selection, exhibited the highest predictive power, especially in the 10-SNP model (AUC of 88.2%), thus improving the AUC by 23% and 17% compared to PRS and ANN, respectively. Genes mapped with input SNPs that were selected by using a genetic algorithm (GA) were functionally validated for risks of developing NSCL/P in gene ontology and protein-protein interaction (PPI) network analyses. The

Indexed as

Cleft LipCleft PalateDeep LearningCase-Control StudiesGene Regulatory NetworksGenetic Predisposition to DiseaseGenotypeHumansInterferon Regulatory FactorsPolymorphism, Single NucleotideRisk AssessmentRisk FactorsInterferon Regulatory FactorsIRF6 protein, humanartificial neural networkgenetic algorithmgenetic risk predictionmachine learningneural networks ensemblenonsyndromic cleft lip with or without cleft palatepolygenic risk scoresingle nucleotide polymorphism

Identifiers

PMID36901988
PMCPMC10003462

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measurements read28
Read underepoch 390

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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.