ReviewFrontiers in molecular biosciences2021
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data.
Review in Frontiers in molecular biosciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.Annals of neurology · 2026Article
- Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.NAR genomics and bioinformatics · 2026Article
- Neutralizing Antibodies: Role in Immune Response and Viral Vector Based Gene Therapy.International journal of molecular sciences · 2025Review
- Nicotine destructs dental stem cell-based periodontal tissue regeneration.Journal of dental sciences · 2024Article
- Epigenomic Approaches for the Diagnosis of Rare Diseases.Epigenomes · 2022Review
- Activation of Functional Somatic Stem Cells Promotes Endogenous Tissue Regeneration.Journal of dental research · 2022Article
- New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.International journal of molecular sciences · 2022Review
- Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.Journal of personalized medicine · 2022Article
- Metabolic Reconfiguration Activates Stemness and Immunomodulation of PDLSCs.International journal of molecular sciences · 2022Article
- Advances in Experimental Research About Periodontitis: Lessons from the Past, Ideas for the Future.Advances in experimental medicine and biology · 2022Article
- Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.Diagnostics (Basel, Switzerland) · 2021Article
- A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.International journal of molecular sciences · 2021Review
- Analyzing Modern Biomolecules: The Revolution of Nucleic-Acid Sequencing - Review.Biomolecules · 2021Review
Corrections and comments
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Authors and funding
3 authors.
Funding
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Abstract
Rare diseases, although individually rare, collectively affect approximately 350 million people worldwide. Currently, nearly 6,000 distinct rare disorders with a known molecular basis have been described, yet establishing a specific diagnosis based on the clinical phenotype is challenging. Increasing integration of whole exome sequencing into routine diagnostics of rare diseases is improving diagnostic rates. Nevertheless, about half of the patients do not receive a genetic diagnosis due to the challenges of variant detection and interpretation. During the last years, RNA sequencing is increasingly used as a complementary diagnostic tool providing functional data. Initially, arbitrary thresholds have been applied to call aberrant expression, aberrant splicing, and mono-allelic expression. With the application of RNA sequencing to search for the molecular diagnosis, the implementation of robust statistical models on normalized read counts allowed for the detection of significant outliers corrected for multiple testing. More recently, machine learning methods have been developed to improve the normalization of RNA sequencing read count data by taking confounders into account. Together the methods have increased the power and sensitivity of detection and interpretation of pathogenic variants, leading to diagnostic rates of 10-35% in rare diseases. In this review, we provide an overview of the methods used for RNA sequencing and illustrate how these can improve the diagnostic yield of rare diseases.
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