C
Cynthia L. Turcotte
Researcher at Hoffmann-La Roche
Publications - 3
Citations - 3563
Cynthia L. Turcotte is an academic researcher from Hoffmann-La Roche. The author has contributed to research in topics: Shotgun sequencing & Genomics. The author has an hindex of 3, co-authored 3 publications receiving 3199 citations.
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Journal ArticleDOI
The complete genome of an individual by massively parallel DNA sequencing
David A. Wheeler,Maithreyan Srinivasan,Michael Egholm,Yufeng Shen,Lei Chen,Amy L. McGuire,Wen He,Yi-Ju Chen,Vinod Makhijani,G. Thomas Roth,Xavier V. Gomes,Karrie R. Tartaro,Karrie R. Tartaro,Faheem Niazi,Cynthia L. Turcotte,Gerard P. Irzyk,James R. Lupski,James R. Lupski,Craig Chinault,Xingzhi Song,Yue Liu,Ye Yuan,Lynne V. Nazareth,Xiang Qin,Donna M. Muzny,Marcel Margulies,George M. Weinstock,George M. Weinstock,Richard A. Gibbs,Richard A. Gibbs,Jonathan M. Rothberg,Jonathan M. Rothberg +31 more
TL;DR: This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods and demonstrated the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing, which is the first genome sequenced by next-generation technologies.
Journal ArticleDOI
Mapping copy number variation by population-scale genome sequencing
Ryan E. Mills,Klaudia Walter,Chip Stewart,Robert E. Handsaker,Ken Chen,Can Alkan,Alexej Abyzov,Seungtai Yoon,Kai Ye,R. Keira Cheetham,Asif T. Chinwalla,Donald F. Conrad,Yutao Fu,Fabian Grubert,Iman Hajirasouliha,Fereydoun Hormozdiari,Lilia M. Iakoucheva,Zamin Iqbal,Shuli Kang,Jeffrey M. Kidd,Miriam K. Konkel,Joshua M. Korn,Ekta Khurana,Deniz Kural,Hugo Y. K. Lam,Jing Leng,Ruiqiang Li,Yingrui Li,Chang-Yun Lin,Ruibang Luo,Xinmeng Jasmine Mu,James Nemesh,Heather E. Peckham,Tobias Rausch,Aylwyn Scally,Xinghua Shi,Michael Strömberg,Adrian M. Sütz,Alexander E. Urban,Jerilyn A. Walker,Jiantao Wu,Yujun Zhang,Zhengdong D. Zhang,Mark A. Batzer,Li Ding,Gabor T. Marth,Gil McVean,Jonathan Sebat,Michael Snyder,Jun Wang,Jun Wang,Kenny Ye,Evan E. Eichler,Mark Gerstein,Matthew E. Hurles,Charles Lee,Steven A. McCarroll,Steven A. McCarroll,Jan O. Korbel,Francis S. Collins,D. L. Altshuler,Richard Durbin,Gonçalo R. Abecasis,David R. Bentley,Aravinda Chakravarti,Andrew G. Clark,F. M. De La Vega,Peter Donnelly,Michael Egholm,Paul Flicek,S. Gabriel,Richard A. Gibbs,Bartha Maria Knoppers,Eric S. Lander,Hans Lehrach,Elaine R. Mardis,Gilean McVean,Deborah A. Nickerson,Leena Peltonen,Alan J. Schafer,Stephen T. Sherry,Richard K. Wilson,David Rio Deiros,Michael L. Metzker,Donna Muzny,Jeffrey S. Reid,D Wheeler,Jingxiang Li,Min Jian,Guoqing Li,Huiqing Liang,Geng Tian,Bo Wang,Wei Wang,Huanming Yang,Xiuqing Zhang,Huisong Zheng,Lauren Ambrogio,Toby Bloom,Kristian Cibulskis,T. J. Fennell,David B. Jaffe,Erica Shefler,Carrie Sougnez,Niall Anthony Gormley,Sean Humphray,Zoya Kingsbury,P. Koko-Gonzales,Jennifer Stone,Kevin McKernan,Gianna Costa,Jeffrey K. Ichikawa,Cheng-Sheng Lee,Ralf Sudbrak,Tatjana Borodina,Andreas Dahl,Alexey N. Davydov,P. Marquardt,Florian Mertes,Wilfried Nietfeld,Philip Rosenstiel,Stuart L. Schreiber,Alexey Soldatov,Bernd Timmermann,M. Tolzmann,Jason P. Affourtit,D. Ashworth,S. Attiya,M. Bachorski,E. Buglione,A. Burke,A. Caprio,Christopher Celone,S. Clark,D. Conners,B. Desany,L. Gu,L. Guccione,K. Kao,A. Kebbel,J. Knowlton,M. Labrecque,L. McDade,Craig Elder Mealmaker,M. Minderman,A. Nawrocki,Faheem Niazi,K. Pareja,Ramenani Ravi K,D. Riches,W. Song,Cynthia L. Turcotte,S. Wang,David J. Dooling,Linnea Fulton,Robert S. Fulton,George M. Weinstock,James O. Burton,David M. Carter,Carol Churcher,Alison J. Coffey,Anthony J. Cox,A. Palotie,Michael A. Quail,Tara Skelly,Jim Stalker,Harold Swerdlow,Dan Turner,A. De Witte,S. Giles,Matthew N. Bainbridge,Danny Challis,Aniko Sabo,Fuli Yu,Jin Yu,Xiaodong Fang,Xiaosen Guo,Shuaishuai Tai,Honglong Wu,Xiaole Zheng,Yan Zhou,E. P. Garrison,Weichun Huang,Amit Indap,Wan-Ping Lee,Wen Fung Leong,Aaron R. Quinlan,Alistair Ward,Mark J. Daly,Mark A. DePristo,A. D. Ball,Eric Banks,Brian L. Browning,Kiran V. Garimella,Sharon R. Grossman,Megan Hanna,Christopher Hartl,Andrew Kernytsky,J. M. Korn,Heng Li,Jared Maguire,Aaron McKenna,James Nemesh,Anthony A. Philippakis,Ryan Poplin,Amanda J. Price,Manual Rivas,Pardis C. Sabeti,Stephen F. Schaffner,Ilya Shlyakhter,David Neil Cooper,Edward V. Ball,Matthew Mort,Adam Phillips,Peter D. Stenson,Vladimir Makarov,Carlos Bustamante,Adam R. Boyko,Jeremiah D. Degenhardt,Simon Gravel,Ryan N. Gutenkunst,Mark Kaganovich,Alon Keinan,Philippe Lacroute,Xin Ma,Alex Reynolds,Laura Clarke,Fiona Cunningham,Javier Herrero,S. Keenen,Eugene Kulesha,Rasko Leinonen,William M. McLaren,Rajesh Radhakrishnan,Raffaella Smith,Vadim Zalunin,Xiangqun Zheng-Bradley,Adrian M. Stütz,Michael Bauer,Tony Cox,Michael A. Eberle,Terena James,Scott Kahn,Lucinda Murray,Fiona Hyland,Jonathan M. Manning,Stephen F. McLaughlin,Onur Sakarya,Yongming A. Sun,Eric F. Tsung,M. Albrecht,Vyacheslav Amstislavskiy,Ralf Herwig,Dmitri Parkhomchuk,Richa Agarwala,H. M. Khouri,Aleksandr Morgulis,Justin Paschall,Lon Phan,Kirill Rotmistrovsky,Robert Sanders,Martin Shumway,Chunlin Xiao,Adam Auton,Gerton Lunter,Jonathan Marchini,Loukas Moutsianas,Simon Myers,Afidalina Tumian,Jo Knight,Roger Winer,David Craig,Stephen M. Beckstrom-Sternberg,Alexis Christoforides,Ahmet Kurdoglu,John V. Pearson,Shripad Sinari,Waibhav Tembe,David Haussler,Angie S. Hinrichs,Sol Katzman,Andrew D. Kern,Robert M. Kuhn,Molly Przeworski,Ryan D. Hernandez,Bryan Howie,Joanna L. Kelley,S. C. Melton,Paige Anderson,Thomas W. Blackwell,Wei Chen,William O.C.M. Cookson,Jun Ding,Hyun Min Kang,Mark Lathrop,Liming Liang,Miriam F. Moffatt,Paul Scheet,C Sidore,Xiaowei Zhan,Sebastian Zöllner,Philip Awadalla,Ferran Casals,Youssef Idaghdour,Jon Keebler,Eric A. Stone,Martine Zilversmit,Lynn B. Jorde,Jinchuan Xing,Gozde Aksay,Suleyman Cenk Sahinalp,Peter H. Sudmant,Daniel C. Koboldt,Michael D. McLellan,John W. Wallis,Michael C. Wendl,Qunyuan Zhang,Cornelis A. Albers,Qasim Ayub,Senduran Balasubramaniam,Jeffrey C. Barrett,Yuan Chen,Petr Danecek,Emmanouil T. Dermitzakis,Min Hu,Ni Huang,Han-Jun Jin,Luke Jostins,Thomas M. Keane,Si Quang Le,Susan Lindsay,Quan Long,Daniel G. MacArthur,Stephen B. Montgomery,Leopold Parts,Chris Tyler-Smith,Shankar Balasubramanian,Robert D. Bjornson,Jiang Du,Lukas Habegger,Rajini R Haraksingh,Justin Jee,H. Y. Lam,J. Jeng,Zhaolei Zhang,E. Bank,S. Yoon,J. Kidd,C. Coafra,Huyen Dinh,Christie Kovar,Sandra J. Lee,Lynne V. Nazareth,Jane Wilkinson,H. M. Khouri,Carol Scott,Neda Gharani,Jane Kaye,Alastair Kent,T. Li,Amy L. McGuire,Pilar N. Ossorio,Charles N. Rotimi,Yeyang Su,Lorraine Toji,Lisa D Brooks,Adam Felsenfeld,Jean E. McEwen,Assya Abdallah,C. R. Juenger,N. C. Clemm,Audrey Duncanson,Eric D. Green,Mark S. Guyer,Jessica L. Peterson +374 more
TL;DR: A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.
A map of human genome variation from population-scale sequencing
Richard Durbin,David Altshuler,Gonçalo R. Abecasis,David R. Bentley,Aravinda Chakravarti,Andrew G. Clark,Francis S. Collins,Francisco M. De La Vega,Peter Donnelly,Michael Egholm,Paul Flicek,Stacey Gabriel,Richard A. Gibbs,Bartha Maria Knoppers,Eric S. Lander,Hans Lehrach,Elaine R. Mardis,Gil McVean,Deborah A. Nickerson,Leena Peltonen,Alan J. Schafer,Stephen T. Sherry,Jun Wang,Richard K. Wilson,David Rio Deiros,Mike Metzker,Donna M. Muzny,Jeffrey S. Reid,David C. Wheeler,Jingxiang Li,Min Jian,Guoqing Li,Ruiqiang Li,Huiqing Liang,Geng Tian,Bo Wang,Jian Wang,Wei Wang,Huanming Yang,Xiuqing Zhang,Huisong Zheng,Lauren Ambrogio,Toby Bloom,Kristian Cibulskis,Timothy Fennell,David B. Jaffe,Erica Shefler,Carrie Sougnez,Niall Anthony Gormley,Sean Humphray,Zoya Kingsbury,Paula Koko-Gonzales,Jennifer Stone,Kevin McKernan,Gina Costa,Jeffrey K. Ichikawa,Clarence Lee,Ralf Sudbrak,Tatiana A. Borodina,Andreas Dahl,Alexey N. Davydov,Peter Marquardt,Florian Mertes,Wilfiried Nietfeld,Philip Rosenstiel,Stefan Schreiber,Aleksey V. Soldatov,Bernd Timmermann,Marius Tolzmann,Jason P. Affourtit,Dana Ashworth,Said Attiya,Melissa Bachorski,Eli Buglione,Adam Burke,Amanda Caprio,Christopher Celone,Shauna Clark,David Conners,Brian Desany,Lisa Gu,Lorri Guccione,Kalvin Kao,Andrew Kebbel,Jennifer Knowlton,Matthew Labrecque,Louise McDade,Craig Elder Mealmaker,Melissa Minderman,Anne Nawrocki,Faheem Niazi,Kristen Pareja,Ramenani Ravi K,David Riches,Wanmin Song,Cynthia L. Turcotte,Shally Wang,David J. Dooling,Lucinda Fulton,Robert S. Fulton,George M. Weinstock,John Burton,David M. Carter,Carol Churcher,Alison J. Coffey,Anthony J. Cox,Aarno Palotie,Michael A. Quail,Tom Skelly,James Stalker,Harold Swerdlow,Daniel J. Turner,Anniek De Witte,Shane Giles,Matthew N. Bainbridge,Danny Challis,Aniko Sabo,Fuli Yu,Jin Yu,Xiaodong Fang,Xiaosen Guo,Yingrui Li,Ruibang Luo,Shuaishuai Tai,Honglong Wu,Hancheng Zheng,Xiaole Zheng,Yan Zhou,Gabor T. Marth,Erik Garrison,Weichun Huang,Amit Indap,Deniz Kural,Wan-Ping Lee,Wen Fung Leong,Aaron R. Quinlan,Chip Stewart,Michael Strömberg,Alistair Ward,Jiantao Wu,Charles Kai-Wu Lee,Ryan E. Mills,Xinghua Shi,Mark J. Daly,Mark A. DePristo,Aaron D. Ball,Eric Banks,Brian L. Browning,Kiran V. Garimella,Sharon R. Grossman,Robert E. Handsaker,Matt Hanna,Christopher Hartl,Andrew Kernytsky,Joshua M. Korn,Heng Li,Jared Maguire,Steven A. McCarroll,Aaron McKenna,James Nemesh,Anthony A. Philippakis,Ryan Poplin,Alkes L. Price,Manuel A. Rivas,Pardis C. Sabeti,Stephen F. Schaffner,Ilya Shlyakhter,David Neil Cooper,Edward V. Ball,Matthew Mort,Andrew David Phillips,Peter D. Stenson,Jonathan Sebat,Vladimir Makarov,Kenny Ye,Seungtai Yoon,Carlos Bustamante,Adam R. Boyko,Jeremiah D. Degenhardt,Simon Gravel,Ryan N. Gutenkunst,Mark Kaganovich,Alon Keinan,Phil Lacroute,Xin Ma,Andrew R. Reynolds,Laura Clarke,Fiona Cunningham,Javier Herrero,Stephen Keenen,Eugene Kulesha,Rasko Leinonen,William M. McLaren,Rajesh Radhakrishnan,Richard Smith,Vadim Zalunin,Xiangqun Zheng-Bradley,Jan O. Korbel,Adrian M. Stütz,Markus J. Bauer,R. Keira Cheetham,Tony Cox,Michael A. Eberle,Terena James,Scott Kahn,Lisa Murray,Kai Ye,Yutao Fu,Fiona Hyland,Jonathan M. Manning,Stephen F. McLaughlin,Heather E. Peckham,Onur Sakarya,Yongming A. Sun,Eric F. Tsung,Mark A. Batzer,Miriam K. Konkel,Jerilyn A. Walker,M. Albrecht,Vyacheslav Amstislavskiy,Ralf Herwig,Dimitri V. Parkhomchuk,Richa Agarwala,Hoda M. Khouri,Aleksandr Morgulis,Justin Paschall,Lon Phan,Kirill Rotmistrovsky,Robert Sanders,Martin Shumway,Chunlin Xiao,Adam Auton,Zamin Iqbal,Gerton Lunter,Jonathan Marchini,Loukas Moutsianas,Simon Myers,Afidalina Tumian,James R. Knight,Roger Winer,David Craig,Steve M. Beckstrom-Sternberg,Alexis Christoforides,Ahmet Kurdoglu,John V. Pearson,Shripad Sinari,Waibhav Tembe,David Haussler,Angie S. Hinrichs,Sol Katzman,Andrew D. Kern,Robert M. Kuhn,Molly Przeworski,Ryan D. Hernandez,Bryan Howie,Joanna L. Kelley,S. Cord Melton,Yun Li,Paul Anderson,Thomas W. Blackwell,Wei Chen,William O.C.M. Cookson,Jun Ding,Hyun Min Kang,Mark Lathrop,Liming Liang,Miriam F. Moffatt,Paul Scheet,Carlo Sidore,Matthew W. Snyder,Xiaowei Zhan,Sebastian Zöllner,Philip Awadalla,Ferran Casals,Youssef Idaghdour,John Keebler,Eric A. Stone,Martine Zilversmit,Lynn B. Jorde,Jinchuan Xing,Evan E. Eichler,Gozde Aksay,Can Alkan,Iman Hajirasouliha,Fereydoun Hormozdiari,Jeffrey M. Kidd,S. Cenk Sahinalp,Peter H. Sudmant,Ken Chen,Asif T. Chinwalla,Li Ding,Daniel C. Koboldt,Michael D. McLellan,John W. Wallis,Michael C. Wendl,Qunyuan Zhang,Cornelis A. Albers,Qasim Ayub,Senduran Balasubramaniam,Jeffrey C. Barrett,Yuan Chen,Donald F. Conrad,Petr Danecek,Emmanouil T. Dermitzakis,Min Hu,Ni Huang,Matthew E. Hurles,Han-Jun Jin,Luke Jostins,Thomas M. Keane,Si Quang Le,Sarah J. Lindsay,Quan Long,Daniel G. MacArthur,Stephen B. Montgomery,Leopold Parts,Chris Tyler-Smith,Klaudia Walter,Yujun Zhang,Mark Gerstein,Michael Snyder,Alexej Abyzov,Suganthi Balasubramanian,Robert D. Bjornson,Jiang Du,Fabian Grubert,Lukas Habegger,Rajini R Haraksingh,Justin Jee,Ekta Khurana,Hugo Y. K. Lam,Jing Leng,Xinmeng Jasmine Mu,Alexander E. Urban,Zhengdong D. Zhang,Cristian Coafra,Huyen Dinh,Christie Kovar,Sandy Lee,Lynne V. Nazareth,Jane E. Wilkinson,Allison Coffey,Carol Scott,Neda Gharani,Jane Kaye,Alastair Kent,Taosha Li,Amy L. McGuire,Pilar N. Ossorio,Charles N. Rotimi,Yeyang Su,Lorraine Toji,Lisa D. Brooks,Adam Felsenfeld,Jean E. McEwen,Assya Abdallah,Christopher R. Juenger,Nicholas C. Clemm,Audrey Duncanson,Eric D. Green,Mark S. Guyer,Jane Peterson +361 more
TL;DR: The pilot phase of the 1000 Genomes Project is presented, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms, and the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants are described.