Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley,Shankar Balasubramanian,Harold Swerdlow,Harold Swerdlow,Geoffrey Paul Smith,John Milton,John Milton,Clive Gavin Brown,Clive Gavin Brown,Kevin Hall,Dirk J. Evers,Colin Barnes,Colin Barnes,Helen Bignell,Jonathan Mark Boutell,Jason Bryant,Richard J. Carter,R. Keira Cheetham,Anthony J. Cox,Darren James Ellis,Michael R. Flatbush,Niall Anthony Gormley,Sean Humphray,Leslie J. Irving,Mirian S. Karbelashvili,Scott M. Kirk,Heng Li,Xiaohai Liu,Xiaohai Liu,Klaus Maisinger,Lisa Murray,Bojan Obradovic,Tobias William Barr Ost,Michael Lawrence Parkinson,M. R. Pratt,Isabelle Rasolonjatovo,Mark T. Reed,Roberto Rigatti,Chiara Rodighiero,Mark T. Ross,Andrea Sabot,Subramanian V. Sankar,Aylwyn Scally,Gary P. Schroth,Mark Smith,Vincent Peter Smith,Anastassia Spiridou,Peta E. Torrance,Svilen S. Tzonev,Eric Vermaas,Klaudia Walter,Wu Xiaolin,Lu Zhang,Mohammed D. Alam,Carole Anastasi,Ify C. Aniebo,David Mark Dunstan Bailey,Iain R. Bancarz,Saibal Banerjee,Selena G. Barbour,Primo Baybayan,Vincent A. Benoit,Kevin Benson,Claire Bevis,Phillip J. Black,Asha Boodhun,Joe S. Brennan,John Bridgham,Rob C. Brown,Andrew A. Brown,Dale Buermann,Abass A. Bundu,James C. Burrows,Nigel P. Carter,Nestor Castillo,Maria Chiara E. Catenazzi,Simon Chang,R. Neil Cooley,Natasha R. Crake,Olubunmi O. Dada,Konstantinos D. Diakoumakos,Belen Dominguez-Fernandez,David James Earnshaw,David James Earnshaw,Ugonna C. Egbujor,David W. Elmore,Sergey Etchin,Mark R. Ewan,Milan Fedurco,Louise Fraser,Karin Fuentes Fajardo,W. Scott Furey,David George,Kimberley J. Gietzen,Colin P. Goddard,George Stefan Golda,Philip A. Granieri,David E. Green,David L. Gustafson,Nancy F. Hansen,Kevin Harnish,Christian D. Haudenschild,Narinder I. Heyer,Matthew M. Hims,Johnny T. Ho,Adrian Horgan,Katya Hoschler,Steve Hurwitz,Denis V. Ivanov,Maria Q. Johnson,Terena James,T. A. Huw Jones,Gyoung-Dong Kang,Tzvetana H. Kerelska,Alan D. Kersey,Irina Khrebtukova,Alex P. Kindwall,Zoya Kingsbury,Paula Kokko-Gonzales,Anil Kumar,Marc Laurent,Cindy Lawley,Sarah E. Lee,Xavier Lee,Arnold Liao,Jennifer A. Loch,Mitch Lok,Shujun Luo,Radhika M. Mammen,John W. Martin,Patrick Mccauley,Paul McNitt,Parul Mehta,Keith W. Moon,Joe W. Mullens,Taksina Newington,Zemin Ning,Bee Ling Ng,Sonia M. Novo,Michael J. O'Neill,Mark A. Osborne,Mark A. Osborne,Andrew Osnowski,Omead Ostadan,Lambros L. Paraschos,Lea Pickering,Andrew C. Pike,Alger C. Pike,D. Chris Pinkard,Daniel P. Pliskin,Joe Podhasky,Victor J. Quijano,Come Raczy,Vicki H. Rae,Stephen Rawlings,Ana Chiva Rodriguez,Phyllida M. Roe,John Rogers,Maria Candelaria Rogert Bacigalupo,Nikolai Romanov,Anthony Romieu,Rithy K. Roth,Natalie J. Rourke,Silke Ruediger,Eli Rusman,Raquel Maria Sanches-Kuiper,Martin R. Schenker,Josefina M. Seoane,Richard Shaw,Mitch K. Shiver,Steven W. Short,Ning Sizto,Johannes P. Sluis,Melanie Anne Smith,Jean Ernest Sohna Sohna,Eric J. Spence,Kim B. Stevens,Neil Sutton,Lukasz Szajkowski,Carolyn Tregidgo,Gerardo Turcatti,Stephanie Vandevondele,Yuli Verhovsky,Selene M. Virk,Suzanne Wakelin,Gregory C. Walcott,Jingwen Wang,Graham John Worsley,Juying Yan,Ling Yau,Mike Zuerlein,Jane Rogers,James C. Mullikin,Matthew E. Hurles,Nick J. McCooke,Nick J. McCooke,John Stephen West,Frank L. Oaks,Peter Lundberg,David Klenerman,Richard Durbin,Anthony J. Smith +201 more
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TLDR
An approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost is reported, effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications.Abstract:
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400-800 base pair) reads, but the existence of reference sequences for the human and many other genomes makes it possible to develop new, fast approaches to re-sequencing, whereby shorter reads are compared to a reference to identify intraspecies genetic variation. Here we report an approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost. Single molecules of DNA are attached to a flat surface, amplified in situ and used as templates for synthetic sequencing with fluorescent reversible terminator deoxyribonucleotides. Images of the surface are analysed to generate high-quality sequence. We demonstrate application of this approach to human genome sequencing on flow-sorted X chromosomes and then scale the approach to determine the genome sequence of a male Yoruba from Ibadan, Nigeria. We build an accurate consensus sequence from >30x average depth of paired 35-base reads. We characterize four million single-nucleotide polymorphisms and four hundred thousand structural variants, many of which were previously unknown. Our approach is effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications.read more
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna,Matthew Hanna,Eric Banks,Andrey Sivachenko,Kristian Cibulskis,Andrew Kernytsky,Kiran V. Garimella,David Altshuler,Stacey Gabriel,Mark J. Daly,Mark A. DePristo +10 more
TL;DR: The GATK programming framework enables developers and analysts to quickly and easily write efficient and robust NGS tools, many of which have already been incorporated into large-scale sequencing projects like the 1000 Genomes Project and The Cancer Genome Atlas.
Journal ArticleDOI
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
TL;DR: Bowtie extends previous Burrows-Wheeler techniques with a novel quality-aware backtracking algorithm that permits mismatches and can be used simultaneously to achieve even greater alignment speeds.
Journal ArticleDOI
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
TL;DR: The ANNOVAR tool to annotate single nucleotide variants and insertions/deletions, such as examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions, or identifying variants reported in the 1000 Genomes Project and dbSNP is developed.
Journal ArticleDOI
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo,Eric Banks,Ryan Poplin,Kiran V. Garimella,Jared Maguire,Christopher Hartl,Anthony A. Philippakis,Anthony A. Philippakis,Anthony A. Philippakis,Guillermo del Angel,Manuel A. Rivas,Manuel A. Rivas,Matt Hanna,Aaron McKenna,Timothy Fennell,Andrew Kernytsky,Andrey Sivachenko,Kristian Cibulskis,Stacey Gabriel,David Altshuler,David Altshuler,Mark J. Daly,Mark J. Daly +22 more
TL;DR: A unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and specific results across five sequencing technologies and three distinct, canonical experimental designs is presented.
Journal ArticleDOI
A Map of Human Genome Variation From Population-Scale Sequencing
Gonçalo R. Abecasis,David Altshuler,David Altshuler,Adam Auton,Lisa D Brooks,Richard Durbin,Richard A. Gibbs,Matthew E. Hurles,Gil McVean +8 more
TL;DR: The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype as mentioned in this paper, and the results of the pilot phase of the project, designed to develop and compare different strategies for genomewide sequencing with high-throughput platforms.
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The International HapMap Project
John W. Belmont,Paul Hardenbol,Thomas D. Willis,Fuli Yu,Huanming Yang,Lan Yang Ch'Ang,Wei Huang,Bin Liu,Yan Shen,Paul K.H. Tam,Lap-Chee Tsui,Mary M.Y. Waye,Jeffrey Tze Fei Wong,Changqing Zeng,Qingrun Zhang,Mark S. Chee,Luana Galver,Semyon Kruglyak,Sarah S. Murray,Arnold Oliphant,Alexandre Montpetit,Fanny Chagnon,Vincent Ferretti,Martin Leboeuf,Michael S. Phillips,Andrei Verner,Shenghui Duan,Denise L. Lind,Raymond D. Miller,John P. Rice,Nancy L. Saccone,Patricia Taillon-Miller,Ming Xiao,Akihiro Sekine,Koki Sorimachi,Yoichi Tanaka,Tatsuhiko Tsunoda,Eiji Yoshino,David R. Bentley,Sarah E. Hunt,Don Powell,Houcan Zhang,Ichiro Matsuda,Yoshimitsu Fukushima,Darryl Macer,Eiko Suda,Charles N. Rotimi,Clement Adebamowo,Toyin Aniagwu,Patricia A. Marshall,Olayemi Matthew,Chibuzor Nkwodimmah,Charmaine D.M. Royal,Mark Leppert,Missy Dixon,Fiona Cunningham,Ardavan Kanani,Gudmundur A. Thorisson,Peter E. Chen,David J. Cutler,Carl S. Kashuk,Peter Donnelly,Jonathan Marchini,Gilean McVean,Simon Myers,Lon R. Cardon,Andrew P. Morris,Bruce S. Weir,James C. Mullikin,Michael Feolo,Mark J. Daly,Renzong Qiu,Alastair Kent,Georgia M. Dunston,Kazuto Kato,Norio Niikawa,Jessica Watkin,Richard A. Gibbs,Erica Sodergren,George M. Weinstock,Richard K. Wilson,Lucinda Fulton,Jane Rogers,Bruce W. Birren,Hua Han,Hongguang Wang,Martin Godbout,John C. Wallenburg,Paul L'Archevêque,Guy Bellemare,Kazuo Todani,Takashi Fujita,Satoshi Tanaka,Arthur L. Holden,Francis S. Collins,Lisa D. Brooks,Jean E. McEwen,Mark S. Guyer,Elke Jordan,Jane Peterson,Jack Spiegel,Lawrence M. Sung,Lynn F. Zacharia,Karen Kennedy,Michael Dunn,Richard Seabrook,Mark Shillito,Barbara Skene,John Stewart,David Valle,Ellen Wright Clayton,Lynn B. Jorde,Aravinda Chakravarti,Mildred K. Cho,Troy Duster,Troy Duster,Morris W. Foster,Maria Jasperse,Bartha Maria Knoppers,Pui-Yan Kwok,Julio Licinio,Jeffrey C. Long,Pilar N. Ossorio,Vivian Ota Wang,Charles N. Rotimi,Patricia Spallone,Patricia Spallone,Sharon F. Terry,Eric S. Lander,Eric H. Lai,Deborah A. Nickerson,Gonçalo R. Abecasis,David Altshuler,Michael Boehnke,Panos Deloukas,Julie A. Douglas,Stacey Gabriel,Richard R. Hudson,Thomas J. Hudson,Leonid Kruglyak,Yusuke Nakamura,Robert L. Nussbaum,Stephen F. Schaffner,Stephen T. Sherry,Lincoln Stein,Toshihiro Tanaka +145 more
TL;DR: The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance the ability to choose targets for therapeutic intervention.
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