Literature DB >> 27862583

How to Define Pathogenicity, Health, and Disease?

Mauno Vihinen1.   

Abstract

Scientific and clinical communities produce ever increasing amounts of data and details about health and disease. Our ability to understand and utilize this information is limited because of imprecise language and lack of well-defined concepts. This problem involves also the principal concepts of health, disease, and pathogenicity. Here, a systematic model is presented for pathogenicity, as well as for health and disease. It has three components: extent, modulation, and severity, which jointly define the continuum of pathogenicity. The model is population based, and once implemented, it can be used for numerous purposes such as diagnosis, patient stratification, prognosis, finding phenotype-genotype correlations, or explaining adverse drug reactions. The new model has several benefits including health economy by allowing evidence-based personalized/precision medicine.
© 2016 WILEY PERIODICALS, INC.

Entities:  

Keywords:  disease; disease extent; disease modulation; disease severity; health; individual variability; pathogenicity; pathogenicity model; pathogenicity zone

Mesh:

Year:  2016        PMID: 27862583     DOI: 10.1002/humu.23144

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  10 in total

1.  How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?

Authors:  Barbara J Evans; Gail Javitt; Ralph Hall; Megan Robertson; Pilar Ossorio; Susan M Wolf; Thomas Morgan; Ellen Wright Clayton
Journal:  J Law Med Ethics       Date:  2020-03       Impact factor: 1.718

2.  PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.

Authors:  Abhishek Niroula; Mauno Vihinen
Journal:  Hum Mutat       Date:  2017-05-02       Impact factor: 4.878

3.  PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms.

Authors:  Yang Yang; Aibin Shao; Mauno Vihinen
Journal:  Front Mol Biosci       Date:  2022-06-16

4.  Strategy for Disease Diagnosis, Progression Prediction, Risk Group Stratification and Treatment-Case of COVID-19.

Authors:  Mauno Vihinen
Journal:  Front Med (Lausanne)       Date:  2020-06-16

5.  Representativeness of variation benchmark datasets.

Authors:  Gerard C P Schaafsma; Mauno Vihinen
Journal:  BMC Bioinformatics       Date:  2018-11-29       Impact factor: 3.169

6.  Variation benchmark datasets: update, criteria, quality and applications.

Authors:  Anasua Sarkar; Yang Yang; Mauno Vihinen
Journal:  Database (Oxford)       Date:  2020-01-01       Impact factor: 3.451

7.  Problems in variation interpretation guidelines and in their implementation in computational tools.

Authors:  Mauno Vihinen
Journal:  Mol Genet Genomic Med       Date:  2020-03-11       Impact factor: 2.183

Review 8.  Individual Genetic Heterogeneity.

Authors:  Mauno Vihinen
Journal:  Genes (Basel)       Date:  2022-09-10       Impact factor: 4.141

9.  Generic model for biological regulation.

Authors:  Mauno Vihinen
Journal:  F1000Res       Date:  2022-04-13

10.  Poikilosis - pervasive biological variation.

Authors:  Mauno Vihinen
Journal:  F1000Res       Date:  2020-06-12
  10 in total

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