Biomedical informatics and machine learning for clinical genomics.
Explore this paper's citation graph
Summary
Recent informatics and machine learning approaches that are improving the understanding of pathogenic variation are highlighted and obstacles that may limit their emerging role in clinical genomics are discussed.
- Type
- review
- Published
- 2018-05-01
- Cited by
- 35
- References
- 57
- Access
- Open access
- OpenAlex
- https://openalex.org/W2791700336
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4189035
Keywords
Genomics, Informatics, Data science, Leverage (statistics), Precision medicine
References
- Categorical and Probabilistic Reasoning in Medical Diagnosis
- ClinGen — The Clinical Genome Resource
- The use of health information technology in seven nations
- Mining electronic health records: towards better research applications and clinical care
- DANN: a deep learning approach for annotating the pathogenicity of genetic variants
- The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
- Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- ACMG clinical laboratory standards for next-generation sequencing
- Using electronic health records to drive discovery in disease genomics
- Perspective The NEW ENGL AND JOURN A L of MEDICI NE
- Exome sequencing as a tool for Mendelian disease gene discovery
- The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies
- Are mortality differences detected by administrative data reliable and actionable?
- Finding the missing link for big biomedical data.
- Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
- UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
- Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
- Molecularly targeted therapy based on tumour molecular profiling versus conventional therapy for advanced cancer (SHIVA): a multicentre, open-label, proof-of-concept, randomised, controlled phase 2 trial.
- China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up.
- Meta-analysis of BRCA1 and BRCA2 penetrance.
Cited by
- Data Analytics in Smart Healthcare: The Recent Developments and Beyond
- DeepHealth: Deep Learning for Health Informatics
- A molekuláris genetikai vizsgálatok szerepe a Landsteiner-szabálytól eltérő ABO vércsoport-szerológiai eredmények esetén
- Machine Learning Implementation in Clinical Anesthesia: Opportunities and Challenges
- A Novel Software Engineering Approach Toward Using Machine Learning for Improving the Efficiency of Health Systems
- Machine learning, the kidney, and genotype-phenotype analysis
- A Rigorous Machine Learning Analysis Pipeline for Biomedical Binary Classification: Application in Pancreatic Cancer Nested Case-control Studies with Implications for Bias Assessments
- Uric Acid and Gluconic Acid as Predictors of Hyperglycemia and Cytotoxic Injury after Stroke
- Artificial Intelligence and the Weaponization of Genetic Data
- Effective Cancer Subtype and Stage Prediction via Dropfeature-DNNs
- A comprehensive survey of deep learning in the field of medical imaging and medical natural language processing: Challenges and research directions
- Bioinformatic analysis reveals an exosomal miRNA-mRNA network in colorectal cancer
- Machine Learning Prediction of Parkinson's Disease Onset and Subtype Using Germline Variants
- Artificial Intelligence and Precision Medicine: A Perspective.
- Machine Learning Application in Genomic, Exercise, and Vital Datasets
- Technology Innovations in Anesthesiology
- Recent Advances of Integrative Bio-Omics Technologies to Improve Type 1 Diabetes (T1D) Care
- Software Engineering for Machine Learning in Health Informatics
- Applications of Neural Networks in Biomedical Data Analysis
- STREAMLINE: A Simple, Transparent, End-To-End Automated Machine Learning Pipeline Facilitating Data Analysis and Algorithm Comparison
Related papers
- Management of clinical precision medicine
- Big data-driven precision medicine: Starting the custom-made era of iatrology.
- News media coverage and corporate leverage adjustments
- Leverage and Corporate Performance: Evidence from Unsuccessful Takeovers
- The dynamics of leverage of newly controlled target firms: evidence after an acquisition
- Sources of high leverage in linear regression model
- The impact of leverage on firm investment : evidence from Dutch listed firms