How to Define Pathogenicity, Health, and Disease?

Variation Interpretation Predictors: Principles, Types, Performance, and Choice

(2016) Abhishek Niroula et al.   HUMAN MUTATION

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

A clinical decision support system for diagnosis of Allergic Rhinitis based on intradermal skin tests

(2015) J. Jabez Christopher et al.   COMPUTERS IN BIOLOGY AND MEDICINE

Computer-aided diagnosis system based on fuzzy logic for breast cancer categorization

(2015) Gisele Helena Barboni Miranda et al.   COMPUTERS IN BIOLOGY AND MEDICINE

A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer

(2015) Mahadeo A. Sukhai et al.   GENETICS IN MEDICINE

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

(2015) Jonathan S. Berg et al.   GENETICS IN MEDICINE

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

A Fuzzy Probabilistic Method for Medical Diagnosis

(2015) D. K. Mak   JOURNAL OF MEDICAL SYSTEMS

Muddled genetic terms miss and mess the message

(2015) Mauno Vihinen   TRENDS IN GENETICS

Finding Our Way through Phenotypes

(2015) Andrew R. Deans et al.   PLOS BIOLOGY

PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants

(2015) Abhishek Niroula et al.   PLoS One

Effect of diabetic neuropathy severity classified by a fuzzy model in muscle dynamics during gait

(2014) Ricky Watari et al.   Journal of NeuroEngineering and Rehabilitation

Clinical Decision Support Systems (CDSS) for preventive management of COPD patients

(2014) Filip Velickovski et al.   Journal of Translational Medicine

Duchenne and Becker Muscular Dystrophies

(2014) Kevin M. Flanigan   NEUROLOGIC CLINICS

Variation Ontology for annotation of variation effects and mechanisms

(2013) M. Vihinen   GENOME RESEARCH

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

(2013) Christopher A. Cassa et al.   HUMAN MUTATION

Japanese severity score for acute pancreatitis well predicts in-hospital mortality: a nationwide survey of 17,901 cases

(2013) Tsuyoshi Hamada et al.   JOURNAL OF GASTROENTEROLOGY

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differences in Prevalence and Severity of Coronary Artery Disease by Three Metabolic Syndrome Definitions

(2012) Jung-Jung Chang et al.   CANADIAN JOURNAL OF CARDIOLOGY

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

A cluster analysis-derived classification of psychological distress and illness behavior in the medically ill

(2011) G. A. Fava et al.   PSYCHOLOGICAL MEDICINE

Genetic Etiologies for Phenotypic Diversity in Sickle Cell Anemia

(2011) Martin H. Steinberg   TheScientificWorldJOURNAL

Criteria for evaluation of disease extent by 123I-metaiodobenzylguanidine scans in neuroblastoma: a report for the International Neuroblastoma Risk Group (INRG) Task Force

(2010) K K Matthay et al.   BRITISH JOURNAL OF CANCER

Estimation of disease severity in the NHS cervical screening programme. Part I: artificial cut-off points and semi-quantitative solutions

(2010) R. G. Blanks   CYTOPATHOLOGY

A validated disease severity scoring system for adults with type 1 Gaucher disease

(2010) Neal J Weinreb et al.   GENETICS IN MEDICINE

Genotype to Phenotype: A Complex Problem

(2010) R. D. Dowell et al.   SCIENCE

Defining Comorbidity: Implications for Understanding Health and Health Services

(2009) J. M. Valderas et al.   ANNALS OF FAMILY MEDICINE

Systematic Classification of Primary Immunodeficiencies Based on Clinical, Pathological, and Laboratory Parameters

(2009) C. Samarghitean et al.   JOURNAL OF IMMUNOLOGY

A Modification of the Elixhauser Comorbidity Measures Into a Point System for Hospital Death Using Administrative Data

(2009) Carl van Walraven et al.   MEDICAL CARE

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multidetector computed tomography coronary artery plaque predictors of stress-induced myocardial ischemia by SPECT

(2007) Fay Lin et al.   ATHEROSCLEROSIS