Whole-genome sequencing (WGS) is a genome-wide DNA sequencing strategy designed to determine nucleotide sequence information across essentially the complete genomic DNA content of an organism or biological sample. The process comprises generation of sequence reads from genomic DNA and computational reconstruction or alignment of those reads to produce genome-scale sequence information from which nucleotide substitutions, insertions and deletions, structural variants, and other forms of genomic variation can be identified [1][2]. WGS data may be represented as a de novo genome assembly, a consensus sequence relative to a reference genome, or a genome-wide catalogue of sequence variants, depending on the analytical design [1][2][3]. Within genomics and phylogenetic studies, homologous genome-wide sequence positions and variants provide characters for estimating genetic relatedness, population structure, evolutionary histories, and phylogenetic relationships [4]. The defining scope of WGS therefore extends from genome-scale sequence acquisition through the primary computational reconstruction and variant characterization required to represent the sequenced genome [2][3][4].
- Whole-genome sequencing
- genomic variation
- genome assembly
- phylogenomics
🔵 Genomics and Phylogenetic Studies • 🟣 Molecular Biology • 🟡 Biochemistry, Genetics and Molecular Biology • 🔴 Life Sciences
References
- Eric S. Lander; Lauren M. Linton; Bruce Birren; Chad Nusbaum; Michael C. Zody; Jennifer Baldwin; Keri Devon; Ken Dewar; Michael Doyle; William Fitzhugh; et al. Initial Sequencing and Analysis of the Human Genome. Nature 2001, 409, 860-921, 10.1038/35057062.
- The 1000 Genomes Project Consortium; A Map of Human Genome Variation from Population-scale Sequencing. Nature 2010, 467, 1061-1073, 10.1038/nature09534.
- Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; et al. A Framework for Variation Discovery and Genotyping Using Next-Generation DNA Sequencing Data. Nat. Genet. 2011, 43, 491-498, 10.1038/ng.806.
- Krishna R. Veeramah; Michael F. Hammer; The Impact of Whole-Genome Sequencing on the Reconstruction of Human Population History. Nat. Rev. Genet. 2014, 15, 149-162, 10.1038/nrg3625.