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Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.

ABSTRACT: More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment. The development of novel genome sequencing techniques has accelerated the discovery and diagnosis in RDs. However, most patients remain undiagnosed. Epigenetics has emerged as a promise for diagnosis and therapies in common disorders (e.g., cancer) with several epimarkers and epidrugs already approved and used in clinical practice. Hence, it may also become an opportunity to uncover new disease mechanisms and therapeutic targets in RDs. In this "big data" age, the amount of information generated, collected, and managed in (bio)medicine is increasing, leading to the need for its rapid and efficient collection, analysis, and characterization. Artificial intelligence (AI), particularly deep learning, is already being successfully applied to analyze genomic information in basic research, diagnosis, and drug discovery and is gaining momentum in the epigenetic field. The application of deep learning to epigenomic studies in RDs could significantly boost discovery and therapy development. This review aims to collect and summarize the application of AI tools in the epigenomic field of RDs. The lower number of studies found, specific for RDs, indicate that this is a field open to expansion, following the results obtained for other more common disorders.

SUBMITTER: Brasil S

PROVIDER: S-EPMC8131862 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ImportanceRecent studies have demonstrated the successful application of artificial intelligence (AI) for automated retinal disease diagnostics but have not addressed a fundamental challenge for deep learning systems: the current need for large, criterion standard-annotated retinal data sets for training. Low-shot learning algorithms, aiming to learn from a relatively low number of training data, may be beneficial for clinical situations involving rare retinal diseases or when addressing potential bias resulting from data that may not adequately represent certain groups for training, such as individuals older than 85 years.ObjectiveTo evaluate whether low-shot deep learning methods are beneficial when using small training data sets for automated retinal diagnostics.Design, setting, and participantsThis cross-sectional study, conducted from July 1, 2019, to June 21, 2020, compared different diabetic retinopathy classification algorithms, traditional and low-shot, for 2-class designations (diabetic retinopathy warranting referral vs not warranting referral). The public domain EyePACS data set was used, which originally included 88 692 fundi from 44 346 individuals. Statistical analysis was performed from February 1 to June 21, 2020.Main outcomes and measuresThe performance (95% CIs) of the various AI algorithms was measured via receiver operating curves and their area under the curve (AUC), precision recall curves, accuracy, and F1 score, evaluated for different training data sizes, ranging from 5120 to 10 samples per class.ResultsDeep learning algorithms, when trained with sufficiently large data sets (5120 samples per class), yielded comparable performance, with an AUC of 0.8330 (95% CI, 0.8140-0.8520) for a traditional approach (eg, fined-tuned ResNet), compared with low-shot methods (AUC, 0.8348 [95% CI, 0.8159-0.8537]) (using self-supervised Deep InfoMax [our method denoted as DIM]). However, when far fewer training images were available (n = 160), the traditional deep learning approach had an AUC decreasing to 0.6585 (95% CI, 0.6332-0.6838) and was outperformed by a low-shot method using self-supervision with an AUC of 0.7467 (95% CI, 0.7239-0.7695). At very low shots (n = 10), the traditional approach had performance close to chance, with an AUC of 0.5178 (95% CI, 0.4909-0.5447) compared with the best low-shot method (AUC, 0.5778 [95% CI, 0.5512-0.6044]).Conclusions and relevanceThese findings suggest the potential benefits of using low-shot methods for AI retinal diagnostics when a limited number of annotated training retinal images are available (eg, with rare ophthalmic diseases or when addressing potential AI bias).

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Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.

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