Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
Andrew J. Rimmer,H Phan,Iain Mathieson,Zamin Iqbal,Twigg Srf.,Wilkie Aom.,Gil McVean,Gil McVean,Gerton Lunter +8 more
TLDR
The performance of Platypus is demonstrated by comparing with SAMtools and GATK on whole-genome and exome-capture data, by identifying de novo variation in 15 parent-offspring trios with high sensitivity and specificity, and by estimating human leukocyte antigen genotypes directly from variant calls.Abstract:
High-throughput DNA sequencing technology has transformed genetic research and is starting to make an impact on clinical practice. However, analyzing high-throughput sequencing data remains challenging, particularly in clinical settings where accuracy and turnaround times are critical. We present a new approach to this problem, implemented in a software package called Platypus. Platypus achieves high sensitivity and specificity for SNPs, indels and complex polymorphisms by using local de novo assembly to generate candidate variants, followed by local realignment and probabilistic haplotype estimation. It is an order of magnitude faster than existing tools and generates calls from raw aligned read data without preprocessing. We demonstrate the performance of Platypus in clinically relevant experimental designs by comparing with SAMtools and GATK on whole-genome and exome-capture data, by identifying de novo variation in 15 parent-offspring trios with high sensitivity and specificity, and by estimating human leukocyte antigen genotypes directly from variant calls.read more
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Journal ArticleDOI
A global reference for human genetic variation.
Adam Auton,Gonçalo R. Abecasis,David Altshuler,Richard Durbin,David R. Bentley,Aravinda Chakravarti,Andrew G. Clark,Peter Donnelly,Evan E. Eichler,Paul Flicek,Stacey Gabriel,Richard A. Gibbs,Eric D. Green,Matthew E. Hurles,Bartha Maria Knoppers,Jan O. Korbel,Eric S. Lander,Charles Lee,Hans Lehrach,Elaine R. Mardis,Gabor T. Marth,Gil McVean,Deborah A. Nickerson,Jeanette Schmidt,Stephen T. Sherry,Jun Wang,Richard K. Wilson,Eric Boerwinkle,Harsha Doddapaneni,Yi Han,Viktoriya Korchina,Christie Kovar,Sandra L. Lee,Donna M. Muzny,Jeffrey G. Reid,Yiming Zhu,Yuqi Chang,Qiang Feng,Qiang Feng,Xiaodong Fang,Xiaodong Fang,Xiaosen Guo,Xiaosen Guo,Min Jian,Min Jian,Hui Jiang,Hui Jiang,Xin Jin,Tianming Lan,Guoqing Li,Jingxiang Li,Yingrui Li,Shengmao Liu,Xiao Liu,Xiao Liu,Yao Lu,Xuedi Ma,Meifang Tang,Bo Wang,Guangbiao Wang,Honglong Wu,Renhua Wu,Xun Xu,Ye Yin,Dandan Zhang,Wenwei Zhang,Jiao Zhao,Meiru Zhao,Xiaole Zheng,Namrata Gupta,Neda Gharani,Lorraine Toji,Norman P. Gerry,Alissa M. Resch,Jonathan Barker,Laura Clarke,Laurent Gil,Sarah E. Hunt,Gavin Kelman,Eugene Kulesha,Rasko Leinonen,William M. McLaren,Rajesh Radhakrishnan,Asier Roa,Dmitriy Smirnov,Richard Smith,Ian Streeter,Anja Thormann,Iliana Toneva,Brendan Vaughan,Xiangqun Zheng-Bradley,Russell J. Grocock,Sean Humphray,Terena James,Zoya Kingsbury,Ralf Sudbrak,M. Albrecht,Vyacheslav Amstislavskiy,Tatiana A. Borodina,Matthias Lienhard,Florian Mertes,Marc Sultan,Bernd Timmermann,Marie-Laure Yaspo,Lucinda Fulton,Victor Ananiev,Zinaida Belaia,Dimitriy Beloslyudtsev,Nathan Bouk,Chao Chen,Deanna M. Church,Robert M. Cohen,Charles Cook,John Garner,Timothy Hefferon,Mikhail Kimelman,Chunlei Liu,John Lopez,Peter Meric,Chris O’Sullivan,Yuri Ostapchuk,Lon Phan,Sergiy Ponomarov,Valerie A. Schneider,Eugene Shekhtman,Karl Sirotkin,Douglas J. Slotta,Hua Zhang,Senduran Balasubramaniam,John Burton,Petr Danecek,Thomas M. Keane,Anja Kolb-Kokocinski,Shane A. McCarthy,James Stalker,Michael A. Quail,Christopher Davies,Jeremy Gollub,Teresa Webster,Brant Wong,Yiping Zhan,Christopher L. Campbell,Yu Kong,Anthony Marcketta,Fuli Yu,Lilian Antunes,Matthew N. Bainbridge,Aniko Sabo,Zhuoyi Huang,Lachlan J. M. Coin,Lin Fang,Lin Fang,Qibin Li,Zhenyu Li,Haoxiang Lin,Binghang Liu,Ruibang Luo,Haojing Shao,Haojing Shao,Yinlong Xie,Chen Ye,Chang Yu,Fan Zhang,Hancheng Zheng,Zhu Hongmei,Can Alkan,Elif Dal,Fatma Kahveci,Erik Garrison,Deniz Kural,Wan-Ping Lee,Wen Fung Leong,Michael Strömberg,Alistair Ward,Jiantao Wu,Mengyao Zhang,Mark J. Daly,Mark A. DePristo,Robert E. Handsaker,Robert E. Handsaker,Eric Banks,Gaurav Bhatia,Guillermo del Angel,Giulio Genovese,Heng Li,Seva Kashin,Seva Kashin,Steven A. McCarroll,Steven A. McCarroll,James Nemesh,Ryan Poplin,Seungtai Yoon,Jayon Lihm,Vladimir Makarov,Srikanth Gottipati,Alon Keinan,Juan L. Rodriguez-Flores,Tobias Rausch,Markus Hsi-Yang Fritz,Adrian M. Stütz,Kathryn Beal,Avik Datta,Javier Herrero,Graham R. S. Ritchie,Daniel R. Zerbino,Pardis C. Sabeti,Pardis C. Sabeti,Ilya Shlyakhter,Ilya Shlyakhter,Stephen F. Schaffner,Stephen F. Schaffner,Joseph J. Vitti,Joseph J. Vitti,David Neil Cooper,Edward V. Ball,Peter D. Stenson,Bret Barnes,Markus J. Bauer,R. Keira Cheetham,Anthony J. Cox,Michael A. Eberle,Scott Kahn,Lisa Murray,John F. Peden,Richard Shaw,Eimear E. Kenny,Mark A. Batzer,Miriam K. Konkel,Jerilyn A. Walker,Daniel G. MacArthur,Monkol Lek,Ralf Herwig,Li Ding,Daniel C. Koboldt,David E. Larson,Kai Ye,Simon Gravel,Anand Swaroop,Emily Y. Chew,Tuuli Lappalainen,Yaniv Erlich,Melissa Gymrek,Melissa Gymrek,Thomas Willems,Jared T. Simpson,Mark D. Shriver,Jeffrey A. Rosenfeld,Carlos Bustamante,Stephen B. Montgomery,Francisco M. De La Vega,Jake K. Byrnes,Andrew Carroll,Marianne K. DeGorter,Phil Lacroute,Brian K. Maples,Alicia R. 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Henn,Danielle Jones,Jane Kaye,Alastair Kent,Angeliki Kerasidou,Rasika A. Mathias,Pilar N. Ossorio,Michael Parker,Charles N. Rotimi,Charmaine D.M. Royal,Karla Sandoval,Yeyang Su,Zhongming Tian,Sarah A. Tishkoff,Marc Via,Yuhong Wang,Huanming Yang,Ling Yang,Jiayong Zhu,Walter F. Bodmer,Gabriel Bedoya,Zhiming Cai,Yang Gao,Jiayou Chu,Leena Peltonen,Andrés C. García-Montero,Alberto Orfao,Julie Dutil,Juan Carlos Martínez-Cruzado,R. Mathias,Anselm Hennis,Harold Watson,Colin A. McKenzie,Firdausi Qadri,Regina C. LaRocque,Xiaoyan Deng,Danny Asogun,Onikepe A. Folarin,Christian T. Happi,Omonwunmi Omoniwa,Matt Stremlau,Matt Stremlau,Ridhi Tariyal,Ridhi Tariyal,M Jallow,M Jallow,Fatoumatta Sisay Joof,Fatoumatta Sisay Joof,Tumani Corrah,Tumani Corrah,Kirk A. Rockett,Kirk A. Rockett,Dominic P. Kwiatkowski,Dominic P. Kwiatkowski,Jaspal S. Kooner,Tran Tinh Hien,Sarah J. Dunstan,Sarah J. Dunstan,Nguyen ThuyHang,Richard Fonnie,Robert F. Garry,Lansana Kanneh,Lina M. Moses,John S. Schieffelin,Donald S. Grant,Carla Gallo,Giovanni Poletti,Danish Saleheen,Asif Rasheed,Lisa D. Brooks,Adam Felsenfeld,Jean E. McEwen,Yekaterina Vaydylevich,Audrey Duncanson,Michael Dunn,Jeffery A. Schloss +517 more
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
Journal ArticleDOI
Pan-cancer analysis of whole genomes
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Mitchell,Quaid Morris,Layla Oesper,Martin Peifer,Myron Peto,Daniel Rosebrock,Yulia Rubanova,Adriana Salcedo,Subhajit Sengupta,Ruian Shi,Seung Jun Shin,Oliver Spiro,Shankar Vembu,Jeffrey A. Wintersinger,Tsun-Po Yang,Kaixian Yu,Hongtu Zhu,Paul T. Spellman,John N. Weinstein,Yiwen Chen,Masashi Fujita,Leng Han,Takanori Hasegawa,Mitsuhiro Komura,Jun Li,Shinichi Mizuno,Eigo Shimizu,Yumeng Wang,Yanxun Xu,Rui Yamaguchi,Fan Yang,Yang Yang,Christopher J. Yoon,Yuan Yuan,Han Liang,Malik Alawi,Ivan Borozan,Daniel Brewer,Colin Cooper,Nikita Desai,Adam Grundhoff,Murat Iskar,Xiaoping Su,Marc Zapatka,Peter Lichter,Kathryn Alsop,Timothy J. C. Bruxner,Angelika N. Christ,Stephen Cordner,Prue A. Cowin,Ronny Drapkin,Sian Fereday,Joshy George,Anne Hamilton,Oliver Holmes,Jillian Hung,Karin S. Kassahn,Stephen H. Kazakoff,Catherine J. Kennedy,Conrad Leonard,Linda Mileshkin,David Miller,Gisela Mir Arnau,Chris Mitchell,Felicity Newell,Katia Nones,Ann-Marie Patch,Michael C.J. Quinn,Darrin Taylor,Heather Thorne,Nadia Traficante,Ravikiran Vedururu,Nick Waddell,Paul Waring,Scott Wood,Qinying Xu,Anna deFazio,Matthew J. Anderson,Davide Antonello,Andrew Barbour,Claudio Bassi,Samantha Bersani,Ivana Cataldo,Lorraine A. Chantrill,Yoke-Eng Chiew,Angela Chou,Sara Cingarlini,Nicole Cloonan,Vincenzo Corbo,Maria Vittoria Davì,Fraser Duthie,Anthony J. Gill,Janet Graham,Ivon Harliwong,Nigel B. Jamieson,Amber L. Johns,James G. Kench,Luca Landoni,Rita T. Lawlor,Andrea Mafficini,Neil D. Merrett,Marco Miotto,Elizabeth A. Musgrove,Adnan Nagrial,Karin A. Oien,Marina Pajic,Mark Pinese,Alan J. Robertson,Ilse Rooman,Borislav Rusev,Jaswinder S. Samra,Maria Scardoni,Christopher J. Scarlett,Aldo Scarpa,Elisabetta Sereni,Katarzyna O. Sikora,Michele Simbolo,Morgan Taschuk,Christopher W. Toon,Caterina Vicentini,Jianmin Wu,Nikolajs Zeps,Andreas Behren,Hazel Burke,Jonathan Cebon,Rebecca A. Dagg,Ricardo De Paoli-Iseppi,Ken Dutton-Regester,Matthew A. Field,Anna Fitzgerald,Peter Hersey,Valerie Jakrot,Peter Johansson,Hojabr Kakavand,Richard F. Kefford,Loretta Lau,Georgina V. Long,Hilda A. Pickett,Antonia L. Pritchard,Gulietta M. Pupo,Robyn P. M. Saw,Sarah-Jane Schramm,Catherine A. Shang,Ping Shang,Andrew J. Spillane,Jonathan R. Stretch,Varsha Tembe,John F. Thompson,Ricardo E. Vilain,James S. Wilmott,Jean Y. Yang,Nicholas K. Hayward,Graham J. Mann,Richard A. Scolyer,John M. S. Bartlett,Prashant Bavi,Dianne Chadwick,Michelle Chan-Seng-Yue,Sean P. Cleary,Ashton A. Connor,Karolina Czajka,Robert E. Denroche,Neesha C. Dhani,Jenna Eagles,Steven Gallinger,Robert C. Grant,David W. Hedley,Michael A. Hollingsworth,Gun Ho Jang,Jeremy Johns,Sangeetha N Kalimuthu,Sheng-Ben Liang,Ilinca Lungu,Xuemei Luo,Faridah Mbabaali,Treasa McPherson,Jessica Miller,Malcolm J. Moore,Faiyaz Notta,Danielle Pasternack,Gloria M. Petersen,Michael H.A. Roehrl,Michelle Sam,Iris Selander,Stefano Serra,Sagedeh Shahabi,Sarah P. Thayer,Lee Timms,Gavin W. Wilson,Julie M. Wilson,Bradly G. Wouters,John Douglas Mcpherson,Timothy A. Beck,Vinayak Bhandari,Colin Collins,Neil Fleshner,Natalie S. Fox,Michael Fraser,Lawrence E. Heisler,Emilie Lalonde,Julie Livingstone,Alice Meng,Veronica Y. Sabelnykova,Yu-Jia Shiah,Theodorus van der Kwast,Robert G. Bristow,Shuai Ding,Daiming Fan,Lin Li,Yongzhan Nie,Xiao Xiao,Rui Xing,Shanlin Yang,Yingyan Yu,Yong Zhou,Rosamonde E. Banks,Guillaume Bourque,Paul Brennan,Louis Letourneau,Yasser Riazalhosseini,Ghislaine Scelo,Naveen S. Vasudev,Juris Viksna,Mark Lathrop,Jörg Tost,Sung-Min Ahn,Samuel Aparicio,Laurent Arnould,Miriam Ragle Aure,Shriram G. Bhosle,Ewan Birney,Åke Borg,Sandrine Boyault,Arie B. Brinkman,Jane E. Brock,Annegien Broeks,Anne Lise Børresen-Dale,Carlos Caldas,Suet-Feung Chin,Helen Davies,Christine Desmedt,Luc Dirix,Serge Dronov,Anna Ehinger,Jorunn E. Eyfjord,Aquila Fatima,John A. Foekens,P. A. Futreal,Øystein Garred,Dilip Giri,Dominik Glodzik,Dorthe Grabau,Holmfridur Hilmarsdottir,Gerrit K. J. Hooijer,Jocelyne Jacquemier,Se Jin Jang,Jon G. Jonasson,J Jonkers,Hyung-Yong Kim,Tari A. King,Stian Knappskog,Gu Kong,Savitri Krishnamurthy,Sunil R. Lakhani,Anita Langerød,Denis Larsimont,Hee Jin Lee,Jeong-Yeon Lee,Ming Ta Michael Lee,Ole Christian Lingjærde,Gaëtan MacGrogan,John W.M. Martens,Sarah O’Meara,Iris Pauporté,Sarah E Pinder,Xavier Pivot,Elena Provenzano,Colin A. Purdie,Manasa Ramakrishna,Kamna Ramakrishnan,Jorge S. Reis-Filho,Andrea L. Richardson,Markus Ringnér,Javier Bartolome Rodriguez,F. Germán Rodríguez-González,Gilles Romieu,Roberto Salgado,Torill Sauer,Rebecca Shepherd,Anieta M. Sieuwerts,Peter T. Simpson,Marcel Smid,Christos Sotiriou,Paul N. Span,Olafur A. Stefansson,Alasdair Stenhouse,Henk Stunnenberg,Fred C.G.J. Sweep,Benita Kiat Tee Tan,Gilles Thomas,Alastair M. Thompson,Stefania Tommasi,Isabelle Treilleux,Andrew Tutt,Naoto T. Ueno,Steven Van Laere,Gert Van den Eynden,Peter Vermeulen,Alain Viari,Anne Vincent-Salomon,Bernice H. Wong,Lucy R. Yates,Xueqing Zou,Carolien H.M. van Deurzen,Marc J. van de Vijver,Laura J. van't Veer,Ole Ammerpohl,Sietse M. Aukema,Anke K. Bergmann,Stephan H. Bernhart,Arndt Borkhardt,Christoph Borst,Birgit Burkhardt,Alexander Claviez,Maria Elisabeth Goebler,Andrea Haake,Siegfried Haas,Martin L. Hansmann,Jessica I. Hoell,Michael Hummel,Dennis Karsch,Wolfram Klapper,Michael Kneba,Markus Kreuz,Dieter Kube,Ralf Kueppers,Dido Lenze,Markus Loeffler,Cristina López,Luisa Mantovani-Loeffler,Peter Moeller,German Ott,Bernhard Radlwimmer,Julia Richter,Marius Rohde,Philip Rosenstiel,Andreas Rosenwald,Markus Schilhabel,Stefan Schreiber,Peter F. Stadler,Peter Staib,Stephan Stilgenbauer,Stephanie Sungalee,Monika Szczepanowski,Umut H. Toprak,Lorenz Truemper,Rabea Wagener,Thorsten Zenz,Volker Hovestadt,Christof von Kalle,Marcel Kool,Andrey Korshunov,Pablo Landgraf,Hans Lehrach,Paul A. Northcott,Stefan M. Pfister,Guido Reifenberger,Hans-Joerg Warnatz,Stephan Wolf,Marie-Laure Yaspo,Yassen Assenov,Clarissa Gerhäuser,Sarah Minner,Thorsten Schlomm,Ronald Simon,Guido Sauter,Holger Sueltmann,Nidhan K. Biswas,Arindam Maitra,Partha P. Majumder,Rajiv Sarin,Stefano Barbi,Giada Bonizzato,Cinzia Cantù,Angelo Paolo Dei Tos,Matteo Fassan,Sonia Grimaldi,Claudio Luchini,Giuseppe Malleo,Giovanni Marchegiani,Michele Milella,Salvatore Paiella,Antonio Pea,Paolo Pederzoli,Andrea Ruzzenente,Roberto Salvia,Nicola Sperandio,Yasuhito Arai,Natsuko Hama,Nobuyoshi Hiraoka,Fumie Hosoda,Hiromi Nakamura,Hidenori Ojima,Takuji Okusaka,Yasushi Totoki,Tomoko Urushidate,Masashi Fukayama,Shumpei Ishikawa,Hitoshi Katai,Hiroto Katoh,Daisuke Komura,Hirofumi Rokutan,Mihoko Saito-Adachi,Akihiro Suzuki,Hirokazu Taniguchi,Kenji Tatsuno,Tetsuo Ushiku,Shinichi Yachida,Shogo Yamamoto,Hiroshi Aikata,Koji Arihiro,Shunichi Ariizumi,Kazuaki Chayama,Mayuko Furuta,Kunihito Gotoh,Shinya Hayami,Satoshi Hirano,Yoshiiku Kawakami,Kazuhiro Maejima,Toru Nakamura,Kaoru Nakano,Hideki Ohdan,Aya Sasaki-Oku,Hiroko Tanaka,Masaki Ueno,Masakazu Yamamoto,Hiroki Yamaue,Su Pin Choo,Ioana Cutcutache,Narong Khuntikeo,Choon Kiat Ong,Chawalit Pairojkul,Irinel Popescu,Keun Soo Ahn,Marta Aymerich,Armando López-Guillermo,Carlos López-Otín,Xose S. Puente,Elias Campo,Fernanda Amary,Daniel Baumhoer,Sam Behjati,Bodil Bjerkehagen,Ola Myklebost,Nischalan Pillay,P. S. Tarpey,Roberto Tirabosco,Olga Zaikova,Adrienne M. Flanagan,Jacqueline Boultwood,David T. Bowen,Mario Cazzola,Anthony R. Green,Eva Hellström-Lindberg,Luca Malcovati,Jyoti Nangalia,Elli Papaemmanuil,Paresh Vyas,Yeng Ang,Hugh Barr,Duncan Beardsmore,Matthew D. Eldridge,James A. Gossage,Nicola Grehan,George B. Hanna,Stephen J. Hayes,Ted R. Hupp,David Khoo,Jesper Lagergren,Laurence Lovat,Shona MacRae,Maria O'Donovan,J. Robert O’Neill,Simon L. Parsons,Shaun R. Preston,Sonia Puig,Tom Roques,Grant Sanders,Sharmila Sothi,Simon Tavaré,Olga Tucker,Richard C. Turkington,Timothy J. Underwood,Ian Welch,Rebecca C. Fitzgerald,Daniel M. Berney,Johann S. De Bono,Declan Cahill,Niedzica Camacho,Nening Dennis,Tim Dudderidge,S. Edwards,Cyril Fisher,Christopher S. Foster,Mohammed J. R. Ghori,Pelvender Gill,Vincent J. Gnanapragasam,Gunes Gundem,Freddie C. Hamdy,Steve Hawkins,Steven Hazell,William J. Howat,William B. Isaacs,Katalin Karaszi,Jonathan D. Kay,Vincent Khoo,Z Kote-Jarai,Barbara Kremeyer,Pardeep Kumar,Adam Lambert,D. Leongamornlert,Naomi Livni,Yong-Jie Lu,Hayley J. Luxton,Luke Marsden,Charles E. Massie,Lucy Matthews,Erik Mayer,Ultan McDermott,Sue Merson,David E. Neal,Anthony C. H. Ng,David Nicol,Chris Ogden,Edward Rowe,Nimish Shah,Sarah Thomas,Alan Thompson,Clare Verrill,Tapio Visakorpi,Anne Y. Warren,Hayley C. Whitaker,Hongwei Zhang,Nicholas van As,Rosalind A. Eeles,Adam Abeshouse,Nishant Agrawal,Rehan Akbani,Hikmat Al Ahmadie,Monique Albert,Kenneth Aldape,Adrian Ally,Elizabeth L. Appelbaum,Joshua Armenia,Sylvia L. Asa,J. Todd Auman,Miruna Balasundaram,Saianand Balu,Jill S. Barnholtz-Sloan,Oliver F. Bathe,Stephen B. Baylin,Christopher C. Benz,Andrew Berchuck,Mario Berrios,Darell D. Bigner,Michael Birrer,Tom Bodenheimer,Lori Boice,Moiz S. Bootwalla,Marcus Bosenberg,Reanne Bowlby,Jeff Boyd,Russell R. Broaddus,Malcolm V. Brock,Denise Brooks,Susan Bullman,Samantha J. Caesar-Johnson,Thomas E. Carey,Rebecca Carlsen,Robert J. Cerfolio,Vishal S. Chandan,Hsiao-Wei Chen,Andrew D. Cherniack,Jeremy Chien,Juok Cho,Eric Chuah,Carrie Cibulskis,Leslie Cope,Matthew G. Cordes,Erin Curley,Bogdan Czerniak,Ludmila Danilova,Ian J. Davis,Timothy Defreitas,John A. Demchok,Noreen Dhalla,Rajiv Dhir,Harshavardhan Doddapaneni,Adel K. El-Naggar,Ina Felau,Martin L. Ferguson,Gaetano Finocchiaro,Kwun M. Fong,Scott Frazer,William A. Friedman,Catrina C. Fronick,Lucinda Fulton,Stacey Gabriel,Jianjiong Gao,Nils Gehlenborg,Jeffrey E. Gershenwald,Ronald Ghossein,Nasra H. Giama,Richard A. Gibbs,Carmen Gomez,Ramaswamy Govindan,D. Neil Hayes,Apurva M. Hegde,David I. Heiman,Zachary J. Heins,Austin J. Hepperla,Andrea Holbrook,Robert A. Holt,Alan P. Hoyle,Ralph H. Hruban,Jianhong Hu,Mei Huang,David G. Huntsman,Jason T. Huse,Christine A. Iacobuzio Donahue,Michael Ittmann,Joy Jayaseelan,Stuart R. Jefferys,Corbin D. Jones,Steven J.M. Jones,Hartmut Juhl,Koo Jeong Kang,Beth Y. Karlan,Katayoon Kasaian,Electron Kebebew,Hark Kyun Kim,Viktoriya Korchina,Ritika Kundra,Phillip H. Lai,Eric S. Lander,Xuan Le,Darlene Lee,Douglas A. Levine,Lora Lewis,Tim Ley,Haiyan Irene Li,Pei Lin,W. M. Linehan,Fei-Fei Liu,Yiling Lu,Lisa Lype,Yussanne Ma,Dennis T. Maglinte,Elaine R. Mardis,Jeffrey R. Marks,Marco A. Marra,Thomas Matthew,Michael Mayo,Karen K. Smith McCune,Sam Meier,Shaowu Meng,Piotr A. Mieczkowski,Tom Mikkelsen,Christopher A. Miller,Gordon B. Mills,Richard A. Moore,Carl Morrison,Lisle E. Mose,Catherine D. Moser,Andrew J. Mungall,Karen Mungall,David G. Mutch,Donna Muzny,Jerome Myers,Yulia Newton,Michael S. Noble,Peter H. O'Donnell,Brian P. O'Neill,Angelica Ochoa,Joong-Won Park,Joel S. Parker,Harvey I. Pass,Alessandro Pastore,Nathan A. Pennell,Charles M. Perou,Nicholas J. Petrelli,Olga Potapova,Janet S. Rader,Suresh S. Ramalingam,W. Kimryn Rathmell,Victor E. Reuter,Sheila Reynolds,Matthew D. Ringel,Jeffrey Roach,Lewis R. Roberts,A. Gordon Robertson,Sara Sadeghi,Charles Saller,Francisco Sanchez-Vega,Dirk Schadendorf,Jacqueline E. Schein,Heather K. Schmidt,Nikolaus Schultz,Raja R. Seethala,Yasin Senbabaoglu,Troy Shelton,Yan Shi,Juliann Shih,Ilya Shmulevich,Craig D. Shriver,Sabina Signoretti,Janae V. Simons,Samuel Singer,Payal Sipahimalani,Tara Skelly,Karen Smith McCune,Nicholas D. Socci,Matthew G. Soloway,Anil K. Sood,Angela Tam,Donghui Tan,Roy Tarnuzzer,Nina Thiessen,R. Houston Thompson,Leigh B. Thorne,M. Tsao,Christopher B. Umbricht,David Van Den Berg,Erwin G. Van Meir,Umadevi Veluvolu,Douglas Voet,Linghua Wang,Paul Weinberger,Daniel J. Weisenberger,Dennis A. Wigle,Matthew D. Wilkerson,Richard K. Wilson,Boris Winterhoff,Maciej Wiznerowicz,Tina Wong,Wing Hing Wong,Liu Xi,Christina Yau,Hailei Zhang,Hongxin Zhang,Jiashan Zhang +1332 more
TL;DR: The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.
Journal ArticleDOI
Patient-derived organoids model treatment response of metastatic gastrointestinal cancers
Georgios Vlachogiannis,Somaieh Hedayat,Alexandra Vatsiou,Yann Jamin,Javier Fernández-Mateos,Khurum Khan,Khurum Khan,Andrea Lampis,Katherine Eason,Ian Said Huntingford,Rosemary Burke,Mihaela Rata,Dow-Mu Koh,Dow-Mu Koh,Nina Tunariu,Nina Tunariu,David J. Collins,Sanna Hulkki-Wilson,Chanthirika Ragulan,Inmaculada Spiteri,Sing Yu Moorcraft,Ian Chau,Sheela Rao,David Watkins,Nicos Fotiadis,Maria Antonietta Bali,Maria Antonietta Bali,Mahnaz Darvish-Damavandi,Hazel Lote,Hazel Lote,Zakaria Eltahir,Elizabeth C Smyth,Ruwaida Begum,Paul A. Clarke,Jens C. Hahne,Mitchell Dowsett,Johann S. de Bono,Paul Workman,Anguraj Sadanandam,Matteo Fassan,Owen J. Sansom,Suzanne A. Eccles,Naureen Starling,Chiara Braconi,Chiara Braconi,Andrea Sottoriva,Simon P. Robinson,David Cunningham,Nicola Valeri,Nicola Valeri +49 more
TL;DR: Responses to anticancer agents ex vivo in organoids and PDO-based orthotopic mouse tumor xenograft models with the responses of the patients in clinical trials are compared to suggest that PDOs can recapitulate patient responses in the clinic and could be implemented in personalized medicine programs.
Posted ContentDOI
Scaling accurate genetic variant discovery to tens of thousands of samples
Ryan Poplin,Ruano-Rubio,Mark A. DePristo,Timothy Fennell,Mauricio O. Carneiro,Van der Auwera Ga,David E. Kling,Laura D. Gauthier,Ami Levy-Moonshine,David Roazen,Khalid Shakir,Thibault J,Chandran S,Christopher W. Whelan,Monkol Lek,Stacey Gabriel,Mark J. Daly,Neale Bm,Daniel G. MacArthur,Eric Banks +19 more
TL;DR: A novel assembly-based approach to variant calling, the GATK HaplotypeCaller and Reference Confidence Model, that determines genotype likelihoods independently per-sample but performs joint calling across all samples within a project simultaneously, showing that the accuracy of indel variant calling is superior in comparison to other algorithms.
Journal ArticleDOI
Allele-Specific HLA Loss and Immune Escape in Lung Cancer Evolution
Nicholas McGranahan,Rachel Rosenthal,Crispin T. Hiley,Crispin T. Hiley,Andrew J. Rowan,Thomas B.K. Watkins,Gareth A. Wilson,Gareth A. Wilson,Nicolai Juul Birkbak,Nicolai Juul Birkbak,Selvaraju Veeriah,Peter Van Loo,Peter Van Loo,Javier Herrero,Charles Swanton,Charles Swanton,Mariam Jamal-Hanjani,Seema Shafi,Justyna Czyzewska-Khan,Diana Johnson,Joanne Laycock,Leticia Bosshard-Carter,Pat Gorman,Robert E. Hynds,Gareth A. Wilson,Stuart Horswell,Richard Mitter,Mickael Escudero,Aengus Stewart,Andrew Rowan,Hang Xu,Samra Turajlic,Crispin T. Hiley,Christopher Abbosh,Jacki Goldman,Richard Kevin Stone,Tamara Denner,Nik Matthews,Greg Elgar,Sophia Ward,Marta Costa,Sharmin Begum,Ben Phillimore,Tim Chambers,Emma Nye,Sofia Graca,Maise Al Bakir,Kroopa Joshi,Andrew Furness,Assma Ben Aissa,Yien Ning Sophia Wong,Andy Georgiou,Sergio A. Quezada,John A. Hartley,Helen Lowe,David Lawrence,Martin Hayward,Nikolaos Panagiotopoulos,Shyam Kolvekar,Mary Falzon,Elaine Borg,Teresa Marafioti,Celia Simeon,Gemma Hector,Amy Smith,Marie Aranda,Marco Novelli,Dahmane Oukrif,Sam M. Janes,Ricky Thakrar,Martin Forster,Tanya Ahmad,Siow Ming Lee,Dionysis Papadatos-Pastos,Dawn Carnell,Ruheena Mendes,Jeremy George,Neal Navani,Asia Ahmed,Magali Taylor,Junaid Choudhary,Yvonne Summers,Raffaele Califano,Paul D. Taylor,Rajesh Shah,Piotr Krysiak,Kendadai Rammohan,Eustace Fontaine,Richard Booton,Matthew Evison,Phil Crosbie,Stuart Moss,Faiza Idries,Leena Dennis Joseph,Paul N. Bishop,Anshuman Chaturved,Anne Marie Quinn,H. Doran,Angela Leek,Phil Harrison,Katrina Moore,Rachael Waddington,Juliette Novasio,Fiona H Blackhall,Jane Rogan,Elaine Smith,Caroline Dive,Jonathan Tugwood,Ged Brady,Dominic G. Rothwell,Francesca Chemi,Jackie Pierce,Sakshi Gulati,Babu Naidu,Gerald Langman,Simon Trotter,Mary Bellamy,Hollie Bancroft,Amy Kerr,Salma Kadiri,Joanne Webb,Gary Middleton,Madava Djearaman,Dean A. Fennell,Jacqui Shaw,John Le Quesne,David A. Moore,Apostolos Nakas,Sridhar Rathinam,William Monteiro,Hilary Marshall,Louise Nelson,Jonathan Bennett,Joan K. Riley,Lindsay Primrose,Luke Martinson,Girija Anand,Sajid A. Khan,Anita Amadi,Marianne Nicolson,Keith M. Kerr,Shirley Palmer,Hardy Remmen,Joy Miller,Keith Buchan,Mahendran Chetty,Lesley Gomersall,Jason F. Lester,A Edwards,Fiona Morgan,Haydn Adams,Helen Davies,Malgorzata Kornaszewska,Richard Attanoos,Sara Lock,Azmina Verjee,Mairead MacKenzie,Maggie Wilcox,Harriet Bell,Allan Hackshaw,Yenting Ngai,Sean W. Smith,N.H. Gower,Christian H. Ottensmeier,Serena Chee,Benjamin Johnson,Aiman Alzetani,Emily Shaw,Eric Lim,Paulo Loureiro de Sousa,Monica Tavares Barbosa,Alex Bowman,Simon Jordan,Alexandra Rice,H. Raubenheimer,Chiara Proli,Maria Elena Cufari,John Carlo Ronquillo,Angela Kwayie,Harshil Bhayani,Morag Hamilton,Yusura Bakar,Natalie Mensah,Lyn Ambrose,Anand Devaraj,Silviu Buderi,Jonathan Finch,Leire Azcarate,Hema Chavan,Sophie Green,Hillaria Mashinga,Andrew G. Nicholson,Kelvin Lau,Michael Sheaff,Peter Schmid,John Conibear,Veni Ezhil,Babikir Ismail,Melanie Irvin-Sellers,Vineet Prakash,Peter Russell,Teresa Light,Tracey Horey,Sarah Danson,Jonathan Bury,John G. Edwards,Jennifer Hill,S. Matthews,Yota Kitsanta,Kim Suvarna,Patricia Fisher,Allah Dino Keerio,Michael Shackcloth,John Gosney,Pieter E. Postmus,Sarah Feeney,Julius Asante-Siaw,Hugo J.W.L. Aerts,Stefan C. Dentro,Christophe Dessimoz +219 more
TL;DR: It is found that HLA LOH occurs in 40% of non-small-cell lung cancers (NSCLCs) and is associated with a high subclonal neoantigen burden, APOBEC-mediated mutagenesis, upregulation of cytolytic activity, and PD-L1 positivity.
References
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li,Richard Durbin +1 more
TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI
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
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
Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
Daniel R. Zerbino,Ewan Birney +1 more
TL;DR: Velvet represents a new approach to assembly that can leverage very short reads in combination with read pairs to produce useful assemblies and is in close agreement with simulated results without read-pair information.
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An integrated map of genetic variation from 1,092 human genomes
Gonçalo R. Abecasis,Adam Auton,Lisa D. Brooks,Mark A. DePristo,Richard Durbin,Robert E. Handsaker,Robert E. Handsaker,Hyun Min Kang,Gabor T. Marth,Gil McVean +9 more
TL;DR: It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.
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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