Dataset Information

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

ABSTRACT: Rare diseases (RDs) concern a broad range of disorders and can result from various origins. For a long time, the scientific community was unaware of RDs. Impressive progress has already been made for certain RDs; however, due to the lack of sufficient knowledge, many patients are not diagnosed. Nowadays, the advances in high-throughput sequencing technologies such as whole genome sequencing, single-cell and others, have boosted the understanding of RDs. To extract biological meaning using the data generated by these methods, different analysis techniques have been proposed, including machine learning algorithms. These methods have recently proven to be valuable in the medical field. Among such approaches, unsupervised learning methods via neural networks including autoencoders (AEs) or variational autoencoders (VAEs) have shown promising performances with applications on various type of data and in different contexts, from cancer to healthy patient tissues. In this review, we discuss how AEs and VAEs have been used in biomedical settings. Specifically, we discuss their current applications and the improvements achieved in diagnostic and survival of patients. We focus on the applications in the field of RDs, and we discuss how the employment of AEs and VAEs would enhance RD understanding and diagnosis.

SUBMITTER: Pratella D

PROVIDER: S-EPMC8509321 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

Pratella David D Ait-El-Mkadem Saadi Samira S Bannwarth Sylvie S Paquis-Fluckinger Véronique V Bottini Silvia S

International journal of molecular sciences 20211008 19

Rare diseases (RDs) concern a broad range of disorders and can result from various origins. For a long time, the scientific community was unaware of RDs. Impressive progress has already been made for certain RDs; however, due to the lack of sufficient knowledge, many patients are not diagnosed. Nowadays, the advances in high-throughput sequencing technologies such as whole genome sequencing, single-cell and others, have boosted the understanding of RDs. To extract biological meaning using the da ...[more]

PMID: 34639231

Similar Datasets

Project description:BackgroundFor a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outstanding molecular investigations, common protocols and dedicated actions at national and international levels; thus, many "Undiagnosed RDs programs" have been gradually developed on the grounds of a well-structured multidisciplinary approach.MethodsThe Italian Undiagnosed Rare Diseases Network (IURDN) was established in 2016 to improve the level of diagnosis of persons with URD living in Italy. Six Italian Centres of Expertise represented the network. The National Centre for Rare Diseases at the Istituto Superiore di Sanità coordinates the whole project. The software PhenoTips was used to collect the information of the clinical cases.ResultsOne hundred and ten cases were analysed between March 2016 and June 2019. The age of onset of the diseases ranged from prenatal age to 51 years. Conditions were predominantly sporadic; almost all patients had multiple organs involvements. A total of 13/71 family cases were characterized by WES; in some families more than one individual was affected, so leading to 20/71 individuals investigated. Disease causing variants were identified in two cases and were associated to previously undescribed phenotypes. In 5 cases, new candidate genes were identified, although confirmatory tests are pending. In three families, investigations were not completed due to the scarce compliance of members and molecular investigations were temporary suspended. Finally, three cases (one familial) remain still unsolved. Twelve undiagnosed clinical cases were then selected to be shared at International level through PhenomeCentral in accordance to the UDNI statement.ConclusionsOur results showed a molecular diagnostic yield of 53,8%; this value is comparable to the diagnostic rates reported in other international studies. Cases collected were also pooled with those collected by UDNI International Network. This represents a unique example of global initiative aimed at sharing and validating knowledge and experience in this field. IURDN is a multidisciplinary and useful initiative linking National and International efforts aimed at making timely and appropriate diagnoses in RD patients who still do not have a confirmed diagnosis even after a long time.

Project description:Chronic diseases represent a serious threat to public health across the world. It is estimated at about 60% of all deaths worldwide and approximately 43% of the global burden of chronic diseases. Thus, the analysis of the healthcare data has helped health officials, patients, and healthcare communities to perform early detection for those diseases. Extracting the patterns from healthcare data has helped the healthcare communities to obtain complete medical data for the purpose of diagnosis. The objective of the present research work is presented to improve the surveillance detection system for chronic diseases, which is used for the protection of people's lives. For this purpose, the proposed system has been developed to enhance the detection of chronic disease by using machine learning algorithms. The standard data related to chronic diseases have been collected from various worldwide resources. In healthcare data, special chronic diseases include ambiguous objects of the class. Therefore, the presence of ambiguous objects shows the availability of traits involving two or more classes, which reduces the accuracy of the machine learning algorithms. The novelty of the current research work lies in the assumption that demonstrates the noncrisp Rough K-means (RKM) clustering for figuring out the ambiguity in chronic disease dataset to improve the performance of the system. The RKM algorithm has clustered data into two sets, namely, the upper approximation and lower approximation. The objects belonging to the upper approximation are favourable objects, whereas the ones belonging to the lower approximation are excluded and identified as ambiguous. These ambiguous objects have been excluded to improve the machine learning algorithms. The machine learning algorithms, namely, naïve Bayes (NB), support vector machine (SVM), K-nearest neighbors (KNN), and random forest tree, are presented and compared. The chronic disease data are obtained from the machine learning repository and Kaggle to test and evaluate the proposed model. The experimental results demonstrate that the proposed system is successfully employed for the diagnosis of chronic diseases. The proposed model achieved the best results with naive Bayes with RKM for the classification of diabetic disease (80.55%), whereas SVM with RKM for the classification of kidney disease achieved 100% and SVM with RKM for the classification of cancer disease achieved 97.53 with respect to accuracy metric. The performance measures, such as accuracy, sensitivity, specificity, precision, and F-score, are employed to evaluate the performance of the proposed system. Furthermore, evaluation and comparison of the proposed system with the existing machine learning algorithms are presented. Finally, the proposed system has enhanced the performance of machine learning algorithms.

Dataset Information

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

Publications

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets