Whole-Genome Sequencing | Encyclopedia MDPI

Whole-Genome Sequencing: Comparison

Please note this is a comparison between Version 1 by Yu Peng and Version 2 by Catherine Yang.

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; et al. Initial Sequencing and Analysis of the Human Genome. Eric S. Lander; Lauren M. Linton; Bruce Birren; Chad Nusbaum; Michael C. Zody; Jennifer Baldwin; Keri Devon; Ken Dewar; Michael Doyle; William Fitzhugh; Roel Funke; Diane Gage; Katrina Harris; Andrew Heaford; John Howland; Lisa Kann; Jessica Lehoczky; Rosie Levine; Paul McEwan; Kevin McKernan; James Meldrim; Jill P. Mesirov; Cher Miranda; William Morris; Jerome Naylor; Christina Raymond; Mark Rosetti; Ralph Santos; Andrew Sheridan; Carrie Sougnez; Nicole Stange-Thomann; Nikola Stojanovic; Aravind Subramanian; Dudley Wyman; Jane Rogers; John Sulston; Rachael Ainscough; Stephan Beck; David Bentley; John Burton; Christopher Clee; Nigel Carter; Alan Coulson; Rebecca Deadman; Panos Deloukas; Andrew Dunham; Ian Dunham; Richard Durbin; Lisa French; Darren Grafham; Simon Gregory; Tim Hubbard; Sean Humphray; Adrienne Hunt; Matthew Jones; Christine Lloyd; Amanda McMurray; Lucy Matthews; Simon Mercer; Sarah Milne; James C. Mullikin; Andrew Mungall; Robert Plumb; Mark Ross; Ratna Shownkeen; Sarah Sims; Robert H. Waterston; Richard K. Wilson; Ladeana W. Hillier; John D. McPherson; Marco A. Marra; Elaine R. Mardis; Lucinda A. Fulton; Asif T. Chinwalla; Kymberlie H. Pepin; Warren R. Gish; Stephanie L. Chissoe; Michael C. Wendl; Kim D. Delehaunty; Tracie L. Miner; Andrew Delehaunty; Jason B. Kramer; Lisa L. Cook; Robert S. Fulton; Douglas L. Johnson; Patrick J. Minx; Sandra W. Clifton; Trevor Hawkins; Elbert Branscomb; Paul Predki; Paul Richardson; Sarah Wenning; Tom Slezak; Norman Doggett; Jan Fang Cheng; Anne Olsen; Susan Lucas; Christopher Elkin; Edward Uberbacher; Marvin Frazier; Richard A. Gibbs; Donna M. Muzny; Steven E. Scherer; John B. Bouck; Erica J. Sodergren; Kim C. Worley; Catherine M. Rives; James H. Gorrell; Michael L. Metzker; Susan L. Naylor; Raju S. Kucherlapati; David L. Nelson; George M. Weinstock; Yoshiyuki Sakaki; Asao Fujiyama; Masahira Hattori; Tetsushi Yada; Atsushi Toyoda; Takehiko Itoh; Chiharu Kawagoe; Hidemi Watanabe; Yasushi Totoki; Todd Taylor; Jean Weissenbach; Roland Heilig; William Saurin; Francois Artiguenave; Philippe Brottier; Thomas Bruls; Eric Pelletier; Catherine Robert; Patrick Wincker; André Rosenthal; Matthias Platzer; Gerald Nyakatura; Stefan Taudien; Andreas Rump; Douglas R. Smith; Lynn Doucette-Stamm; Marc Rubenfield; Keith Weinstock; Mei Lee Hong; Joann Dubois; Huanming Yang; Jun Yu; Jian Wang; Guyang Huang; Jun Gu; Leroy Hood; Lee Rowen; Anup Madan; Shizen Qin; Ronald W. Davis; Nancy A. Federspiel; A. Pia Abola; Michael J. Proctor; Bruce A. Roe; Feng Chen; Huaqin Pan; Juliane Ramser; Hans Lehrach; Richard Reinhardt; W. Richard McCombie; Melissa De La Bastide; Neilay Dedhia; Helmut Blöcker; Klaus Hornischer; Gabriele Nordsiek; Richa Agarwala; L. Aravind; Jeffrey A. Bailey; Alex Bateman; Serafim Batzoglou; Ewan Birney; Peer Bork; Daniel G. Brown; Christopher B. Burge; Lorenzo Cerutti; Hsiu Chuan Chen; Deanna Church; Michele Clamp; Richard R. Copley; Tobias Doerks; Sean R. Eddy; Evan E. Eichler; Terrence S. Furey; James Galagan; James G R Gilbert; Cyrus Harmon; Yoshihide Hayashizaki; David Haussler; Henning Hermjakob; Karsten Hokamp; Wonhee Jang; L. Steven Johnson; Thomas A. Jones; Simon Kasif; Arek Kaspryzk; Scot Kennedy; W. James Kent; Paul Kitts; Eugene V. Koonin; Ian Korf; David Kulp; Doron Lancet; Todd M. Lowe; Aoife McLysaght; Tarjei Mikkelsen; John V. Moran; Nicola Mulder; Victor J. Pollara; Chris P. Ponting; Greg Schuler; Jörg Schultz; Guy Slater; Arian F A Smit; Elia Stupka; Joseph Szustakowki; Danielle Thierry-Mieg; Jean Thierry-Mieg; Lukas Wagner; John Wallis; Raymond Wheeler; Alan Williams; Yuri I. Wolf; Kenneth H. Wolfe; Shiaw Pyng Yang; Ru Fang Yeh; Francis Collins; Mark S. Guyer; Jane Peterson; Adam Felsenfeld; Kris A. Wetterstrand; Richard M. Myers; Jeremy Schmutz; Mark Dickson; Jane Grimwood; David R. Cox; Maynard V. Olson; Rajinder Kaul; Christopher Raymond; Nobuyoshi Shimizu; Kazuhiko Kawasaki; Shinsei Minoshima; Glen A. Evans; Maria Athanasiou; Roger Schultz; Aristides Patrinos; Michael J. Morgan; Initial Sequencing and Analysis of the Human Genome. Nature 2001, 409, 860-921. [CrossRef]
The 1000 Genomes Project Consortium; A Map of Human Genome Variation from Population-scale Sequencing. Nature 2010, 467, 1061-1073. [CrossRef]
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; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly; A Framework for Variation Discovery and Genotyping Using Next-Generation DNA Sequencing Data. Nat. Genet. 2011, 43, 491-498. [CrossRef]
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. [CrossRef]