ABSTRACT
Detection of genomic variation among individuals of a population is among the most frequent applications of next-generation sequencing (NGS). Genome sequence heterogeneity is prevalent in a naturally occurring population, which cannot be captured by the current use of a single reference genome for a species. Genomic variant cataloging projects, such as the 1000 Genomes Project and the 100,000 Genomes Project, underscore the importance of genomic variation discovery. Locating genomic sequence variations that correlate with disease predisposition or drug response, and establishing a genotypic basis of various phenotypes have become common focuses of many NGS studies in biomedical and life science research. Besides variations carried through the germline for generations, NGS has also been applied to identify de novo germline and somatic mutations, which occur more frequently than previously expected and underlie numerous human diseases including various types of cancer [198,199].
