Journal
INTERDISCIPLINARY SCIENCES-COMPUTATIONAL LIFE SCIENCES
Volume 12, Issue 4, Pages 547-554Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s12539-020-00400-9
Keywords
Biological process; Gene ontology; Human phenotype ontology; Genotype– phenotype correlation
Categories
Funding
- National Key R&D Program of China [2018YFC0910500]
- Science and Technology Commission of Shanghai Municipality (STCSM) [17DZ22512000]
- Foundation of Shanghai Municipal Commission of Health and Family Planning Grant [2018ZHYL0223]
- Shanghai Jiaotong University School of Medicine [TM201501, TM201623]
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A substantial body of research is focused to improve the understanding of the relationship between genotypes and phenotypes. Genotype-phenotype studies have shown promise in improving disease diagnosis in humans and identification of specific clinical phenotypes may be helpful in developing more effective therapeutic and diagnostic strategies. To expand on the existing paradigm of evaluating genotypes and phenotypes, we present an investigation of the correlation between biological processes as represented by genomic information and phenotypes in human disease. We focus on monogenic diseases and link biological process and phenotype utilizing information from the Online Mendelian Inheritance in Man, the Gene Ontology, and the Human Phenotype Ontology comprehensive genomic, phenotypic, and disease information resources. Our study uncovers 4661 statistically significant associations and identifies novel correlations between biological processes and phenotypes. We find new relationships between unique phenotype-genotype pairs related to cardiovascular diseases and hypertelorism, which suggests that differences between certain phenotype-genotype association may be the key to the divergence of corresponding phenotypes. Although the application of correlating genotype, phenotype, and biological processes may help to guide diagnosis and treatment of diseases, further investigation and more specific gene ontology descriptions are still required to elucidate mechanisms of action.
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