Author Correction: Improving the accuracy of medical diagnosis with causal machine learning.
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ABSTRACT:
SUBMITTER: Richens JG
PROVIDER: S-EPMC8012648 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Machine learning promises to revolutionize clinical decision making and diagnosis. In medical diagnosis a doctor aims to explain a patient's symptoms by determining the diseases causing them. However, existing machine learning approaches to diagnosis are purely associative, identifying diseases that are strongly correlated with a patients symptoms. We show that this inability to disentangle correlation from causation can result in sub-optimal or dangerous diagnoses. To overcome this, we reformulate diagnosis as a counterfactual inference task and derive counterfactual diagnostic algorithms. We compare our counterfactual algorithms to the standard associative algorithm and 44 doctors using a test set of clinical vignettes. While the associative algorithm achieves an accuracy placing in the top 48% of doctors in our cohort, our counterfactual algorithm places in the top 25% of doctors, achieving expert clinical accuracy. Our results show that causal reasoning is a vital missing ingredient for applying machine learning to medical diagnosis.
| S-EPMC7419549 | biostudies-literature
Project description:An amendment to this paper has been published and can be accessed via a link at the top of the paper.
| S-EPMC7691369 | biostudies-literature
Project description:Advances in high-throughput sequencing technologies have reduced the cost of genotyping dramatically and led to genomic prediction being widely used in animal and plant breeding, and increasingly in human genetics. Inspired by the efficient computing of linear mixed model and the accurate prediction of Bayesian methods, we propose a machine learning-based method incorporating cross-validation, multiple regression, grid search, and bisection algorithms named KAML that aims to combine the advantages of prediction accuracy with computing efficiency. KAML exhibits higher prediction accuracy than existing methods, and it is available at https://github.com/YinLiLin/KAML.
| S-EPMC7386246 | biostudies-literature
Project description:[This corrects the article DOI: 10.1038/s41560-020-0662-1.].
| S-EPMC7543031 | biostudies-literature
Project description:BACKGROUND: With the rapid expansion of DNA sequencing databases, it is now feasible to identify relevant information from prior sequencing projects and completed genomes and apply it to de novo sequencing of new organisms. As an example, this paper demonstrates how such extra information can be used to improve de novo assemblies by augmenting the overlapping step. Finding all pairs of overlapping reads is a key task in many genome assemblers, and to this end, highly efficient algorithms have been developed to find alignments in large collections of sequences. It is well known that due to repeated sequences, many aligned pairs of reads nevertheless do not overlap. But no overlapping algorithm to date takes a rigorous approach to separating aligned but non-overlapping read pairs from true overlaps. RESULTS: We present an approach that extends the Minimus assembler by a data driven step to classify overlaps as true or false prior to contig construction. We trained several different classification models within the Weka framework using various statistics derived from overlaps of reads available from prior sequencing projects. These statistics included percent mismatch and k-mer frequencies within the overlaps as well as a comparative genomics score derived from mapping reads to multiple reference genomes. We show that in real whole-genome sequencing data from the E. coli and S. aureus genomes, by providing a curated set of overlaps to the contigging phase of the assembler, we nearly doubled the median contig length (N50) without sacrificing coverage of the genome or increasing the number of mis-assemblies. CONCLUSIONS: Machine learning methods that use comparative and non-comparative features to classify overlaps as true or false can be used to improve the quality of a sequence assembly.
| S-EPMC2824677 | biostudies-literature
Project description:IntroductionMachine learning (ML) is a set of models and methods that can detect patterns in vast amounts of data and use this information to perform various kinds of decision-making under uncertain conditions. This review explores the current role of this technology in plastic surgery by outlining the applications in clinical practice, diagnostic and prognostic accuracies, and proposed future direction for clinical applications and research.MethodsEMBASE, MEDLINE, CENTRAL and ClinicalTrials.gov were searched from 1990 to 2020. Any clinical studies (including case reports) which present the diagnostic and prognostic accuracies of machine learning models in the clinical setting of plastic surgery were included. Data collected were clinical indication, model utilised, reported accuracies, and comparison with clinical evaluation.ResultsThe database identified 1181 articles, of which 51 articles were included in this review. The clinical utility of these algorithms was to assist clinicians in diagnosis prediction (n=22), outcome prediction (n=21) and pre-operative planning (n=8). The mean accuracy is 88.80%, 86.11% and 80.28% respectively. The most commonly used models were neural networks (n=31), support vector machines (n=13), decision trees/random forests (n=10) and logistic regression (n=9).ConclusionsML has demonstrated high accuracies in diagnosis and prognostication of burn patients, congenital or acquired facial deformities, and in cosmetic surgery. There are no studies comparing ML to clinician's performance. Future research can be enhanced using larger datasets or utilising data augmentation, employing novel deep learning models, and applying these to other subspecialties of plastic surgery.
| S-EPMC8225366 | biostudies-literature
Project description:Samples of primary tumors collected from 23 ovarian cancer patients
2018-04-07 | GSE112798 | GEO
Project description:The accurate quantification of wall loss caused by corrosion is critical to the reliable life estimation of pipes and pressure vessels. Traditional thickness gauging by scanning a probe is slow and requires access to all points on the surface; this is impractical in many cases as corrosion often occurs where access is restricted, such as beneath supports where water collects. Guided wave tomography presents a solution to this; by transmitting guided waves through the region of interest and exploiting their dispersive nature, it is possible to build up a map of thickness. While the best results have been seen when using the fundamental modes A0 and S0 at low frequency, the complex scattering of the waves causes errors within the reconstruction. It is demonstrated that these lead to an underestimate in wall loss for A0 but an overestimate for S0. Further analysis showed that this error was related to density variation, which was proportional to thickness. It was demonstrated how this could be corrected for in the reconstructions, in many cases resulting in the near-elimination of the error across a range of defects, and greatly improving the accuracy of life estimates from guided wave tomography.
| S-EPMC4841668 | biostudies-literature
Project description:Artificial intelligence (AI) driven by machine learning (ML) algorithms is a branch in computer science that is rapidly gaining popularity within the healthcare sector. Recent regulatory approvals of AI-driven companion diagnostics and other products are glimmers of a future in which these tools could play a key role by defining the way medicine will be practiced. Educating the next generation of medical professionals with the right ML techniques will enable them to become part of this emerging data science revolution.
| S-EPMC6550167 | biostudies-literature
Project description:AIMS:We conducted a systematic review assessing the reporting quality of studies validating models based on machine learning (ML) for clinical diagnosis, with a specific focus on the reporting of information concerning the participants on which the diagnostic task was evaluated on. METHOD:Medline Core Clinical Journals were searched for studies published between July 2015 and July 2018. Two reviewers independently screened the retrieved articles, a third reviewer resolved any discrepancies. An extraction list was developed from the Transparent Reporting of a multivariable prediction model for Individual Prognosis Or Diagnosis guideline. Two reviewers independently extracted the data from the eligible articles. Third and fourth reviewers checked, verified the extracted data as well as resolved any discrepancies between the reviewers. RESULTS:The search results yielded 161 papers, of which 28 conformed to the eligibility criteria. Detail of data source was reported in 24 of the 28 papers. For all of the papers, the set of patients on which the ML-based diagnostic system was evaluated was partitioned from a larger dataset, and the method for deriving such set was always reported. Information on the diagnostic/non-diagnostic classification was reported well (23/28). The least reported items were the use of reporting guideline (0/28), distribution of disease severity (8/28 patient flow diagram (10/28) and distribution of alternative diagnosis (10/28). A large proportion of studies (23/28) had a delay between the conduct of the reference standard and ML tests, while one study did not and four studies were unclear. For 15 studies, it was unclear whether the evaluation group corresponded to the setting in which the ML test will be applied to. CONCLUSION:All studies in this review failed to use reporting guidelines, and a large proportion of them lacked adequate detail on participants, making it difficult to replicate, assess and interpret study findings. PROSPERO REGISTRATION NUMBER:CRD42018099167.
| S-EPMC7103817 | biostudies-literature