Using C-JAMP to Investigate Epistasis and Pleiotropy. 2021

Stefan Konigorski, and Benjamin S Glicksberg
Digital Health & Machine Learning Research Group, Hasso Plattner Institute for Digital Engineering, Potsdam, Germany. Stefan.Konigorski@hpi.de.

Unraveling the complex biological mechanisms underlying human health and disease is a great challenge. With genomic data, many aspects can be investigated in great detail, such as interactions between different genetic variants as well as their effects on one or multiple traits. Modeling epistasis and pleiotropy jointly necessitates appropriate statistical methods. A suitable tool for this is C-JAMP, which is a recently proposed method based on copula functions. In this chapter, we outline C-JAMP and how it can be applied to investigate epistatic effects on multiple traits to advance our understanding of biological processes. We further discuss important aspects of this area of research, such as polygenic risk scores and ancestry-specific modeling, which we propose to include in future extensions of the software.

UI MeSH Term Description Entries
D008957 Models, Genetic Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment. Genetic Models,Genetic Model,Model, Genetic
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011446 Prospective Studies Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. Prospective Study,Studies, Prospective,Study, Prospective
D004843 Epistasis, Genetic A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes. Deviation, Epistatic,Epistatic Deviation,Genes, Epistatic,Genes, Hypostatic,Epistases, Genetic,Gene-Gene Interaction, Epistatic,Gene-Gene Interactions, Epistatic,Genetic Epistases,Genetic Epistasis,Interaction Deviation,Non-Allelic Gene Interactions,Epistatic Gene,Epistatic Gene-Gene Interaction,Epistatic Gene-Gene Interactions,Epistatic Genes,Gene Gene Interaction, Epistatic,Gene Gene Interactions, Epistatic,Gene Interaction, Non-Allelic,Gene Interactions, Non-Allelic,Gene, Epistatic,Gene, Hypostatic,Hypostatic Gene,Hypostatic Genes,Interaction, Epistatic Gene-Gene,Interaction, Non-Allelic Gene,Interactions, Epistatic Gene-Gene,Interactions, Non-Allelic Gene,Non Allelic Gene Interactions,Non-Allelic Gene Interaction
D006113 United Kingdom Country in northwestern Europe including Great Britain and the northern one-sixth of the island of Ireland, located between the North Sea and north Atlantic Ocean. The capital is London. Great Britain,Isle of Man
D006680 HLA Antigens Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases. Human Leukocyte Antigen,Human Leukocyte Antigens,Leukocyte Antigens,HL-A Antigens,Antigen, Human Leukocyte,Antigens, HL-A,Antigens, HLA,Antigens, Human Leukocyte,Antigens, Leukocyte,HL A Antigens,Leukocyte Antigen, Human,Leukocyte Antigens, Human
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012984 Software Sequential operating programs and data which instruct the functioning of a digital computer. Computer Programs,Computer Software,Open Source Software,Software Engineering,Software Tools,Computer Applications Software,Computer Programs and Programming,Computer Software Applications,Application, Computer Software,Applications Software, Computer,Applications Softwares, Computer,Applications, Computer Software,Computer Applications Softwares,Computer Program,Computer Software Application,Engineering, Software,Open Source Softwares,Program, Computer,Programs, Computer,Software Application, Computer,Software Applications, Computer,Software Tool,Software, Computer,Software, Computer Applications,Software, Open Source,Softwares, Computer Applications,Softwares, Open Source,Source Software, Open,Source Softwares, Open,Tool, Software,Tools, Software
D014644 Genetic Variation Genotypic differences observed among individuals in a population. Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic
D015992 Body Mass Index An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI Quetelet Index,Quetelet's Index,Index, Body Mass,Index, Quetelet,Quetelets Index

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