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Network Modules of the Cross-Species Genotype-Phenotype Map Reflect the Clinical Severity of Human Diseases SCIE SCOPUS

Title
Network Modules of the Cross-Species Genotype-Phenotype Map Reflect the Clinical Severity of Human Diseases
Authors
Han, SKKim, IHwang, JKim, S
Date Issued
2015-08-24
Publisher
PUBLIC LIBRARY SCIENCE
Abstract
Recent advances in genome sequencing techniques have improved our understanding of the genotype-phenotype relationship between genetic variants and human diseases. However, genetic variations uncovered from patient populations do not provide enough information to understand the mechanisms underlying the progression and clinical severity of human diseases. Moreover, building a high-resolution genotype-phenotype map is difficult due to the diverse genetic backgrounds of the human population. We built a cross-species genotype-phenotype map to explain the clinical severity of human genetic diseases. We developed a data-integrative framework to investigate network modules composed of human diseases mapped with gene essentiality measured from a model organism. Essential and nonessential genes connect diseases of different types which form clusters in the human disease network. In a large patient population study, we found that disease classes enriched with essential genes tended to show a higher mortality rate than disease classes enriched with nonessential genes. Moreover, high disease mortality rates are explained by the multiple comorbid relationships and the high pleiotropy of disease genes found in the essential gene-enriched diseases. Our results reveal that the genotype-phenotype map of a model organism can facilitate the identification of human disease-gene associations and predict human disease progression.
Keywords
PROTEIN-INTERACTION NETWORK; MOLECULAR INTERACTION DATABASE; GENETIC-DISEASES; MODEL ORGANISMS; REVEALS; MICE; COMORBIDITY; DISCOVERY; RESOURCE; BIOLOGY
URI
https://oasis.postech.ac.kr/handle/2014.oak/13442
DOI
10.1371/JOURNAL.PONE.0136300
ISSN
1932-6203
Article Type
Article
Citation
PLOS ONE, vol. 10, no. 8, page. E0136300, 2015-08-24
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김상욱KIM, SANGUK
Dept of Life Sciences
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