Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts
Joshua Z. Levin,Michael F. Berger,Xian Adiconis,Peter Rogov,Alexandre Melnikov,Timothy Fennell,Chad Nusbaum,Levi A. Garraway,Levi A. Garraway,Andreas Gnirke +9 more
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TLDR
Targeted RNA-Seq produces an enhanced view of the molecular state of a set of "high interest" genes by combining next-generation sequencing with capture of sequences from a relevant subset of a transcriptome.Abstract:
Targeted RNA-Seq combines next-generation sequencing with capture of sequences from a relevant subset of a transcriptome. When testing by capturing sequences from a tumor cDNA library by hybridization to oligonucleotide probes specific for 467 cancer-related genes, this method showed high selectivity, improved mutation detection enabling discovery of novel chimeric transcripts, and provided RNA expression data. Thus, targeted RNA-Seq produces an enhanced view of the molecular state of a set of "high interest" genes.read more
Citations
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Journal ArticleDOI
RNA sequencing: advances, challenges and opportunities
Fatih Ozsolak,Patrice M. Milos +1 more
TL;DR: Recent developments in RNA-seq methods have provided an even more complete characterization of RNA transcripts, including improvements in transcription start site mapping, strand-specific measurements, gene fusion detection, small RNA characterization and detection of alternative splicing events.
Journal ArticleDOI
Advances in understanding cancer genomes through second-generation sequencing
TL;DR: This Review focuses on the methodological considerations for characterizing somatic genome alterations in cancer and the future prospects for these approaches.
Journal ArticleDOI
A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium
Zhenqiang Su,Paweł P. Łabaj,Sheng Li,Jean Thierry-Mieg,Danielle Thierry-Mieg,Wei Shi,Charles Wang,Gary P. Schroth,Robert Setterquist,John F. Thompson,Wendell D. Jones,Wenzhong Xiao,Wenzhong Xiao,Weihong Xu,Roderick V. Jensen,Reagan Kelly,Joshua Xu,Ana Conesa,Cesare Furlanello,Hanlin Gao,Huixiao Hong,Nadereh Jafari,Stan Letovsky,Yang Liao,Fei Lu,Edward J. Oakeley,Zhiyu Peng,Craig A. Praul,Javier Santoyo-Lopez,Andreas Scherer,Tieliu Shi,Gordon K. Smyth,Frank Staedtler,Peter Sykacek,Xin Xing Tan,E. Aubrey Thompson,Jo Vandesompele,May D. Wang,Jian Wang,Russell D. Wolfinger,Jiri Zavadil,Jiri Zavadil,Scott S. Auerbach,Wenjun Bao,Hans Binder,Thomas M. Blomquist,Murray H. Brilliant,Pierre R. Bushel,Weimin Cai,Jennifer G. Catalano,Ching-Wei Chang,Tao Chen,Geng Chen,Rong Chen,Marco Chierici,Tzu Ming Chu,Djork-Arné Clevert,Youping Deng,Adnan Derti,Viswanath Devanarayan,Zirui Dong,Joaquín Dopazo,Tingting Du,Hong Fang,Yongxiang Fang,Mario Fasold,Anita Fernandez,Matthias Fischer,Pedro Furió-Tarí,James C. Fuscoe,Florian Caimet,Stan Gaj,Jorge Gandara,Huan Gao,Weigong Ge,Yoichi Gondo,Binsheng Gong,Meihua Gong,Zhuolin Gong,Bridgett Green,Chao Guo,Lei Guo,Li Wu Guo,James Hadfield,Jan Hellemans,Sepp Hochreiter,Meiwen Jia,Min Jian,Charles D. Johnson,Suzanne Kay,Jos C. S. Kleinjans,Samir Lababidi,Shawn Levy,Quan Zhen Li,Li Li,Peng Li,Yan Li,Haiqing Li,Jianying Li,Shiyong Li,Simon Lin,Francisco Javier López,Xin Lu,Heng Luo,Xiwen Ma,Joseph Meehan,Dalila B. Megherbi,Nan Mei,Bing Mu,Baitang Ning,Akhilesh Pandey,Javier Pérez-Florido,Roger Perkins,Ryan Peters,John H. Phan,Mehdi Pirooznia,Feng Qian,Tao Qing,Lucille Rainbow,Philippe Rocca-Serra,Laure Sambourg,Susanna-Assunta Sansone,Scott Schwartz,Ruchir R. Shah,Jie Shen,Todd M. Smith,Oliver Stegle,Nancy Stralis-Pavese,Elia Stupka,Yutaka Suzuki,Lee Thomas Szkotnicki,Matthew Tinning,Bimeng Tu,Joost H.M. van Delft,Alicia Vela-Boza,Elisa Venturini,Stephen J. Walker,Liqing Wan,Wei Wang,Jinhui Wang,Jun Wang,Jun Wang,Eric D. Wieben,James C. Willey,Po Yen Wu,Jiekun Xuan,Yong Yang,Zhan Ye,Ye Yin,Ying Yu,Yate Ching Yuan,John Zhang,Ke Zhang,Wenqian Zhang,Wenwei Zhang,Yanyan Zhang,Chen Zhao,Yuanting Zheng,Yiming Zhou,Paul Zumbo,Weida Tong,David P. Kreil,David P. Kreil,Christopher E. Mason,Leming Shi +164 more
TL;DR: The complete SEQC data sets, comprising >100 billion reads, provide unique resources for evaluating RNA-seq analyses for clinical and regulatory settings, and measurement performance depends on the platform and data analysis pipeline, and variation is large for transcript-level profiling.
Journal ArticleDOI
The impact of next-generation sequencing on genomics
TL;DR: With its ability to tackle the unsolved challenges unconquered by previous genomic technologies, NGS is likely to unravel the complexity of the human genome in terms of genetic variations, some of which may be confined to susceptible loci for some common human conditions.
Journal ArticleDOI
The Histone Deacetylase SIRT6 Is a Tumor Suppressor that Controls Cancer Metabolism
Carlos Sebastian,Bernadette M. M. Zwaans,Dafne Magalí Silberman,Dafne Magalí Silberman,Melissa Gymrek,Alon Goren,Lei Zhong,Oren Ram,Jessica Truelove,Alexander R. Guimaraes,Debra Toiber,Claudia Cosentino,Joel K. Greenson,Alasdair I. MacDonald,Liane M. McGlynn,Fraser Maxwell,Joanne Edwards,Sofia Giacosa,Ernesto Guccione,Ralph Weissleder,Bradley E. Bernstein,Aviv Regev,Aviv Regev,Aviv Regev,Paul G. Shiels,David B. Lombard,Raul Mostoslavsky +26 more
TL;DR: SIRT6 is identified as a tumor suppressor that regulates aerobic glycolysis in cancer cells and functions as a regulator of ribosome metabolism by corepressing MYC transcriptional activity, highlighting SIRT6 as a critical modulator of cancer metabolism.
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TL;DR: The interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in 206 glioblastomas reveals a link between MGMT promoter methylation and a hypermutator phenotype consequent to mismatch repair deficiency in treated gliobeasts, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer.
Journal ArticleDOI
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry,Minghong Ward,Michael Kholodov,Jonathan Baker,Lon Phan,Elizabeth M. Smigielski,Karl Sirotkin +6 more
TL;DR: The dbSNP database is a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, and is integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data.
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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
TL;DR: 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.