Evidence map›Paper›PMID 39086995›Full record

ArticleCurrent genomics2024

Prediction of Deleterious Single Amino Acid Polymorphisms with a Consensus Holdout Sampler.

Óscar Álvarez-Machancoses, Eshel Faraggi, Enrique J deAndrés-Galiana, Juan L Fernández-Martínez, Andrzej Kloczkowski

Abstract read
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Article in Current genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Óscar Álvarez-MachancosesGroup of Inverse Problems, Optimization and Machine Learning, Department of Mathematics, University of Oviedo, C. Federico García Lorca, 18, 33007, Oviedo, Spain.
Eshel FaraggiSchool of Science, Indiana University-Purdue University Indianapolis, IN, USA.
Enrique J deAndrés-GalianaGroup of Inverse Problems, Optimization and Machine Learning, Department of Mathematics, University of Oviedo, C. Federico García Lorca, 18, 33007, Oviedo, Spain.
Juan L Fernández-MartínezGroup of Inverse Problems, Optimization and Machine Learning, Department of Mathematics, University of Oviedo, C. Federico García Lorca, 18, 33007, Oviedo, Spain.
Andrzej KloczkowskiInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Single Amino Acid Polymorphisms (SAPs) or nonsynonymous Single Nucleotide Variants (nsSNVs) are the most common genetic variations. They result from missense mutations where a single base pair substitution changes the genetic code in such a way that the triplet of bases (codon) at a given position is coding a different amino acid. Since genetic mutations sometimes cause genetic diseases, it is important to comprehend and foresee which variations are harmful and which ones are neutral (not causing changes in the phenotype). This can be posed as a classification problem. Methods: Computational methods using machine intelligence are gradually replacing repetitive and exceedingly overpriced mutagenic tests. By and large, uneven quality, deficiencies, and irregularities of nsSNVs datasets debase the convenience of artificial intelligence-based methods. Subsequently, strong and more exact approaches are needed to address these problems. In the present work paper, we show a consensus classifier built on the holdout sampler, which appears strong and precise and outflanks all other popular methods. Results: We produced 100 holdouts to test the structures and diverse classification variables of diverse classifiers during the training phase. The finest performing holdouts were chosen to develop a consensus classifier and tested using a k-fold (1 ≤ k ≤5) cross-validation method. We also examined which protein properties have the biggest impact on the precise prediction of the effects of nsSNVs. Conclusion: Our Consensus Holdout Sampler outflanks other popular algorithms, and gives excellent results, highly accurate with low standard deviation. The advantage of our method emerges from using a tree of holdouts, where diverse LM/AI-based programs are sampled in diverse ways.

Indexed as

deep samplingholdout samplermachine learningPolymorphismsprotein mutationsingle amino acid variants

Identifiers

PMID39086995
PMCPMC11288160

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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.