ABSTRACT

This chapter focuses on graphical models and network-based analysis in genetics, genomics, and metagenomics, with an emphasis on incorporating biomolecular networks in answering fundamental biological questions. Human genetic research aims to identify the genetic variants that are associated with various complex phenotypes. A genetic variant may refer to a single-nucleotide polymorphism (SNP), which is a common variant that occurs in at least 1% of a population, a mutation, in a case where it is a rare variant, or a copy-number variation/aberration. Expression quantitative trait locus (eQTL) refers to the genomic regions that carry one or more sequence variants that affect the expression of a gene, typically measured by microarrays or high-throughput RNA sequencing. Metagenomics has emerged as a powerful tool for learning microbial communities by directly extracting genetic materials from environmental samples. Microorganisms such as bacteria and archaea do not exist in isolation but form complex ecological interaction networks.