Dataset Information

Artificial Intelligence and Cardiovascular Genetics.

ABSTRACT: Polygenic diseases, which are genetic disorders caused by the combined action of multiple genes, pose unique and significant challenges for the diagnosis and management of affected patients. A major goal of cardiovascular medicine has been to understand how genetic variation leads to the clinical heterogeneity seen in polygenic cardiovascular diseases (CVDs). Recent advances and emerging technologies in artificial intelligence (AI), coupled with the ever-increasing availability of next generation sequencing (NGS) technologies, now provide researchers with unprecedented possibilities for dynamic and complex biological genomic analyses. Combining these technologies may lead to a deeper understanding of heterogeneous polygenic CVDs, better prognostic guidance, and, ultimately, greater personalized medicine. Advances will likely be achieved through increasingly frequent and robust genomic characterization of patients, as well the integration of genomic data with other clinical data, such as cardiac imaging, coronary angiography, and clinical biomarkers. This review discusses the current opportunities and limitations of genomics; provides a brief overview of AI; and identifies the current applications, limitations, and future directions of AI in genomics.

SUBMITTER: Krittanawong C

PROVIDER: S-EPMC8875522 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Artificial Intelligence and Cardiovascular Genetics.

Krittanawong Chayakrit C Johnson Kipp W KW Choi Edward E Kaplin Scott S Venner Eric E Murugan Mullai M Wang Zhen Z Glicksberg Benjamin S BS Amos Christopher I CI Schatz Michael C MC Tang W H Wilson WHW

Life (Basel, Switzerland) 20220214 2

Polygenic diseases, which are genetic disorders caused by the combined action of multiple genes, pose unique and significant challenges for the diagnosis and management of affected patients. A major goal of cardiovascular medicine has been to understand how genetic variation leads to the clinical heterogeneity seen in polygenic cardiovascular diseases (CVDs). Recent advances and emerging technologies in artificial intelligence (AI), coupled with the ever-increasing availability of next generatio ...[more]

PMID: 35207566

Similar Datasets

Project description:Precision medicine has the potential to revolutionize the way cardiovascular diseases are diagnosed, predicted, and treated by tailoring treatment strategies to the individual characteristics of each patient. Artificial intelligence (AI) has recently emerged as a promising tool for improving the accuracy and efficiency of precision cardiovascular medicine. In this scoping review, we aimed to identify and summarize the current state of the literature on the use of AI in precision cardiovascular medicine. A comprehensive search of electronic databases, including Scopes, Google Scholar, and PubMed, was conducted to identify relevant studies. After applying inclusion and exclusion criteria, a total of 28 studies were included in the review. We found that AI is being increasingly applied in various areas of cardiovascular medicine, including the diagnosis, prognosis of cardiovascular diseases, risk prediction and stratification, and treatment planning. As a result, most of these studies focused on prediction (50%), followed by diagnosis (21%), phenotyping (14%), and risk stratification (14%). A variety of machine learning models were utilized in these studies, with logistic regression being the most used (36%), followed by random forest (32%), support vector machine (25%), and deep learning models such as neural networks (18%). Other models, such as hierarchical clustering (11%), Cox regression (11%), and natural language processing (4%), were also utilized. The data sources used in these studies included electronic health records (79%), imaging data (43%), and omics data (4%). We found that AI is being increasingly applied in various areas of cardiovascular medicine, including the diagnosis, prognosis of cardiovascular diseases, risk prediction and stratification, and treatment planning. The results of the review showed that AI has the potential to improve the performance of cardiovascular disease diagnosis and prognosis, as well as to identify individuals at high risk of developing cardiovascular diseases. However, further research is needed to fully evaluate the clinical utility and effectiveness of AI-based approaches in precision cardiovascular medicine. Overall, our review provided a comprehensive overview of the current state of knowledge in the field of AI-based methods for precision cardiovascular medicine and offered new insights for researchers interested in this research area.

Project description:BackgroundLate gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) imaging enables imaging of scar/fibrosis and is a cornerstone of most CMR imaging protocols. CMR imaging can benefit from image acceleration; however, image acceleration in LGE remains challenging due to its limited signal-to-noise ratio. In this study, we sought to evaluate a rapid two-dimensional (2D) LGE imaging protocol using a generative artificial intelligence (AI) algorithm with inline reconstruction.MethodsA generative AI-based image enhancement was used to improve the sharpness of 2D LGE images acquired with low spatial resolution in the phase-encode direction. The generative AI model is an image enhancement technique built on the enhanced super-resolution generative adversarial network. The model was trained using balanced steady-state free-precession cine images, readily used for LGE without additional training. The model was implemented inline, allowing the reconstruction of images on the scanner console. We prospectively enrolled 100 patients (55 ± 14 years, 72 males) referred for clinical CMR at 3T. We collected three sets of LGE images in each subject, with in-plane spatial resolutions of 1.5 × 1.5-3-6 mm2. The generative AI model enhanced in-plane resolution to 1.5 × 1.5 mm2 from the low-resolution counterparts. Images were compared using a blur metric, quantifying the perceived image sharpness (0 = sharpest, 1 = blurriest). LGE image sharpness (using a 5-point scale) was assessed by three independent readers.ResultsThe scan times for the three imaging sets were 15 ± 3, 9 ± 2, and 6 ± 1 s, with inline generative AI-based images reconstructed time of ∼37 ms. The generative AI-based model improved visual image sharpness, resulting in lower blur metric compared to low-resolution counterparts (AI-enhanced from 1.5 × 3 mm2 resolution: 0.3 ± 0.03 vs 0.35 ± 0.03, P < 0.01). Meanwhile, AI-enhanced images from 1.5 × 3 mm2 resolution and original LGE images showed similar blur metric (0.30 ± 0.03 vs 0.31 ± 0.03, P = 1.0) Additionally, there was an overall 18% improvement in image sharpness between AI-enhanced images from 1.5 × 3 mm2 resolution and original LGE images in the subjective blurriness score (P < 0.01).ConclusionThe generative AI-based model enhances the image quality of 2D LGE images while reducing the scan time and preserving imaging sharpness. Further evaluation in a large cohort is needed to assess the clinical utility of AI-enhanced LGE images for scar evaluation, as this proof-of-concept study does not provide evidence of an impact on diagnosis.

Dataset Information

Artificial Intelligence and Cardiovascular Genetics.

Publications

Artificial Intelligence and Cardiovascular Genetics.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets