Journal ArticleDOI
The landscape of somatic mutations in Down syndrome-related myeloid disorders
Kenichi Yoshida,Tsutomu Toki,Yusuke Okuno,Rika Kanezaki,Yuichi Shiraishi,Aiko Sato-Otsubo,Aiko Sato-Otsubo,Masashi Sanada,Masashi Sanada,Myoung-ja Park,Kiminori Terui,Hiromichi Suzuki,Hiromichi Suzuki,Ayana Kon,Ayana Kon,Yasunobu Nagata,Yasunobu Nagata,Yusuke Sato,Yusuke Sato,Ru Nan Wang,Ru Nan Wang,Norio Shiba,Kenichi Chiba,Hiroko Tanaka,Asahito Hama,Hideki Muramatsu,Daisuke Hasegawa,Kazuhiro Nakamura,Hirokazu Kanegane,Keiko Tsukamoto,Souichi Adachi,Kiyoshi Kawakami,Koji Kato,Ryosei Nishimura,Shai Izraeli,Yasuhide Hayashi,Satoru Miyano,Seiji Kojima,Etsuro Ito,Seishi Ogawa,Seishi Ogawa +40 more
Reads0
Chats0
TLDR
Subsequent AMKL evolves from a pre-existing TAM clone through the acquisition of additional mutations, with major mutational targets including multiple cohesin components and EZH2, KANSL1 and other epigenetic regulators, as well as common signaling pathways, such as the JAK family kinases, MPL, SH2B3 and multiple RAS pathway genes.Citations
More filters
Journal ArticleDOI
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
Daniel A. Arber,Attilio Orazi,Robert P. Hasserjian,Jürgen Thiele,Michael J. Borowitz,Michelle M. Le Beau,Clara D. Bloomfield,Mario Cazzola,James W. Vardiman +8 more
TL;DR: The 2016 edition of the World Health Organization classification of tumors of the hematopoietic and lymphoid tissues represents a revision of the prior classification rather than an entirely new classification and attempts to incorporate new clinical, prognostic, morphologic, immunophenotypic, and genetic data that have emerged since the last edition.
Journal Article
Patterns of Somatic Mutation in Human Cancer Genomes
TL;DR: In this paper, the coding exons of the family of 518 protein kinases were sequenced in 210 cancers of diverse histological types to explore the nature of the information that will be derived from cancer genome sequencing.
Integrative Genomics Viewer
James T. Robinson,Helga Thorvaldsdottir,Wendy Winckler,Mitchell Guttman,Eric S. Lander,Eric S. Lander,Gad Getz,Jill P. Mesirov +7 more
TL;DR: The sheer volume and scope of data posed by this flood of data pose a significant challenge to the development of efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data.
Journal ArticleDOI
Mutational landscape and clonal architecture in grade II and III gliomas
Hiromichi Suzuki,Kosuke Aoki,Kenichi Chiba,Yusuke Sato,Yusuke Shiozawa,Yuichi Shiraishi,Teppei Shimamura,Atsushi Niida,Kazuya Motomura,Fumiharu Ohka,Takashi Yamamoto,Kuniaki Tanahashi,Melissa Ranjit,Toshihiko Wakabayashi,Tetsuichi Yoshizato,Keisuke Kataoka,Kenichi Yoshida,Yasunobu Nagata,Aiko Sato-Otsubo,Hiroko Tanaka,Masashi Sanada,Yutaka Kondo,Hideo Nakamura,Masahiro Mizoguchi,Tatsuya Abe,Yoshihiro Muragaki,Reiko Watanabe,Ichiro Ito,Satoru Miyano,Atsushi Natsume,Seishi Ogawa +30 more
TL;DR: In this article, the authors delineate the entire picture of genetic alterations and affected pathways in these glioma types, with sensitive detection of driver genes Grade II and III gliomas comprise three distinct subtypes characterized by discrete sets of mutations and distinct clinical behaviors, suggesting that there is functional interplay between the mutations that drive clonal selection.
Journal ArticleDOI
Dynamics of clonal evolution in myelodysplastic syndromes
Hideki Makishima,Hideki Makishima,Tetsuichi Yoshizato,Kenichi Yoshida,Mikkael A. Sekeres,Tomas Radivoyevitch,Hiromichi Suzuki,Bartlomie J. Przychodzen,Yasunobu Nagata,Manja Meggendorfer,Masashi Sanada,Yusuke Okuno,Cassandra M. Hirsch,Teodora Kuzmanovic,Yusuke Sato,Aiko Sato-Otsubo,Thomas LaFramboise,Naoko Hosono,Yuichi Shiraishi,Kenichi Chiba,Claudia Haferlach,Wolfgang Kern,Hiroko Tanaka,Yusuke Shiozawa,Inés Gómez-Seguí,Holleh D Husseinzadeh,Swapna Thota,Kathryn M Guinta,Brittney Dienes,Tsuyoshi Nakamaki,Shuichi Miyawaki,Yogen Saunthararajah,Shigeru Chiba,Satoru Miyano,Lee Yung Shih,Torsten Haferlach,Seishi Ogawa,Jaroslaw P. Maciejewski +37 more
TL;DR: Significantly enriched in high-risk MDS, TP53, GATA2, KRAS, RUNX1, STAG2, ASXL1, ZRSR2 and TET2 mutations (type 2) had a weaker impact on sAML progression and overall survival than type-1 mutations.
References
More filters
Journal ArticleDOI
The Sequence Alignment/Map format and SAMtools
Heng Li,Bob Handsaker,Alec Wysoker,T. J. Fennell,Jue Ruan,Nils Homer,Gabor T. Marth,Gonçalo R. Abecasis,Richard Durbin +8 more
TL;DR: SAMtools as discussed by the authors implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments.
Journal ArticleDOI
Integrative genomics viewer
James T. Robinson,Helga Thorvaldsdottir,Wendy Winckler,Mitchell Guttman,Eric S. Lander,Eric S. Lander,Gad Getz,Jill P. Mesirov +7 more
TL;DR: In this article, the authors present an approach for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data.
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
Comprehensive molecular portraits of human breast tumours
Daniel C. Koboldt,Robert S. Fulton,Michael D. McLellan,Heather Schmidt,Joelle Kalicki-Veizer,Joshua F. McMichael,Lucinda Fulton,David J. Dooling,Li Ding,Elaine R. Mardis,Richard K. Wilson,Adrian Ally,Miruna Balasundaram,Yaron S.N. Butterfield,Rebecca Carlsen,Candace Carter,Andy Chu,Eric Chuah,Hye Jung E. Chun,Robin J.N. Coope,Noreen Dhalla,Ranabir Guin,Carrie Hirst,Martin Hirst,Robert A. Holt,Darlene Lee,Haiyan I. Li,Michael Mayo,Richard A. Moore,Andrew J. Mungall,Erin Pleasance,A. Gordon Robertson,Jacqueline E. Schein,Arash Shafiei,Payal Sipahimalani,Jared R. Slobodan,Dominik Stoll,Angela Tam,Nina Thiessen,Richard Varhol,Natasja Wye,Thomas Zeng,Yongjun Zhao,Inanc Birol,Steven J.M. Jones,Marco A. Marra,Andrew D. Cherniack,Gordon Saksena,Gordon Saksena,Robert C. Onofrio,Nam H. Pho,Scott L. Carter,Steven E. Schumacher,Steven E. Schumacher,Barbara Tabak,Barbara Tabak,Bryan Hernandez,Jeff Gentry,Huy Nguyen,Andrew Crenshaw,Kristin G. Ardlie,Rameen Beroukhim,Rameen Beroukhim,Wendy Winckler,Gad Getz,Gad Getz,Stacey Gabriel,Matthew Meyerson,Matthew Meyerson,Lynda Chin,Lynda Chin,Raju Kucherlapati,Katherine A. Hoadley,J. Todd Auman,Cheng Fan,Yidi J. Turman,Yan Shi,Ling Li,Michael D. Topal,Xiaping He,Hann Hsiang Chao,Aleix Prat,Grace O. Silva,Michael D. Iglesia,Wei Zhao,Jerry Usary,Jonathan S. Berg,Michael C. Adams,Jessica K. Booker,Junyuan Wu,Anisha Gulabani,Tom Bodenheimer,Alan P. Hoyle,Janae V. Simons,Matthew G. Soloway,Lisle E. Mose,Stuart R. Jefferys,Saianand Balu,Joel S. Parker,D. Neil Hayes,Charles M. Perou,Simeen Malik,Swapna Mahurkar,Hui Shen,Daniel J. Weisenberger,Timothy J. Triche,Phillip H. Lai,Moiz S. Bootwalla,Dennis T. Maglinte,Benjamin P. Berman,David Van Den Berg,Stephen B. Baylin,Peter W. Laird,Chad J. Creighton,Lawrence A. Donehower,Michael S. Noble,Doug Voet,Nils Gehlenborg,Daniel Di Cara,Juinhua Zhang,Hailei Zhang,Chang-Jiun Wu,Spring Yingchun Liu,Michael S. Lawrence,Lihua Zou,Andrey Sivachenko,Pei Lin,Petar Stojanov,Rui Jing,Juok Cho,Raktim Sinha,Richard W. Park,Marc Danie Nazaire,James A. Robinson,Helga Thorvaldsdottir,Jill P. Mesirov,Peter J. Park,Sheila Reynolds,Richard Kreisberg,Brady Bernard,Ryan Bressler,Timo Erkkilä,Jake Lin,Vesteinn Thorsson,Wei Zhang,Ilya Shmulevich,Giovanni Ciriello,Nils Weinhold,Nikolaus Schultz,Jianjiong Gao,Ethan Cerami,Benjamin Gross,Anders Jacobsen,Rileen Sinha,B. Arman Aksoy,Yevgeniy Antipin,Boris Reva,Ronglai Shen,Barry S. Taylor,Marc Ladanyi,Chris Sander,Pavana Anur,Paul T. Spellman,Yiling Lu,Wenbin Liu,Roel R.G. Verhaak,Gordon B. Mills,Gordon B. Mills,Rehan Akbani,Nianxiang Zhang,Bradley M. Broom,Tod D. Casasent,Chris Wakefield,Anna K. Unruh,Keith A. Baggerly,Kevin R. Coombes,John N. Weinstein,David Haussler,Christopher C. Benz,Joshua M. Stuart,Stephen C. Benz,Jingchun Zhu,Christopher Szeto,Gary K. Scott,Christina Yau,Evan O. Paull,Daniel E. Carlin,Christopher K. Wong,Artem Sokolov,Janita Thusberg,Sean D. Mooney,Sam Ng,Theodore C. Goldstein,Kyle Ellrott,Mia Grifford,Christopher Wilks,Singer Ma,Brian Craft,Chunhua Yan,Ying Hu,Daoud Meerzaman,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Jay Bowen,Nilsa C. Ramirez,Nilsa C. Ramirez,Aaron D. Black,Robert E. Pyatt,Robert E. Pyatt,Peter White,Peter White,Erik Zmuda,Jessica Frick,Tara M. Lichtenberg,Robin Brookens,Myra M. George,Mark Gerken,Hollie A. Harper,Kristen M. Leraas,Lisa Wise,Teresa R. Tabler,Cynthia McAllister,Thomas Barr,Melissa Hart-Kothari,Katie Tarvin,Charles Saller,George E. Sandusky,Colleen Mitchell,Mary Iacocca,Jennifer Brown,Brenda Rabeno,Christine Czerwinski,Nicholas J. Petrelli,Oleg Dolzhansky,Mikhail Abramov,Olga Voronina,Olga Potapova,Jeffrey R. Marks,Wiktoria Maria Suchorska,Dawid Murawa,Witold Kycler,Matthew Ibbs,Konstanty Korski,Arkadiusz Spychała,Pawel Murawa,Jacek J. Brzeziński,Hanna Perz,Radoslaw Łaźniak,M. Teresiak,Honorata Tatka,Ewa Leporowska,Marta Bogusz-Czerniewicz,Julian Malicki,Andrzej Mackiewicz,Maciej Wiznerowicz,Xuan Van Le,Bernard Kohl,Nguyen Viet Tien,Richard Thorp,Nguyen Van Bang,Howard H. Sussman,Bui Duc Phu,Richard A. Hajek,Nguyen Phi Hung,Huynh Quyet Thang,Khurram Z. Khan,Robert Penny,David Mallery,Erin Curley,Candace Shelton,Peggy Yena,James N. Ingle,Fergus J. Couch,Wilma L. Lingle,Tari A. King,Ana M. Gonzalez-Angulo,Ana M. Gonzalez-Angulo,Mary D. Dyer,Shuying Liu,Xiaolong Meng,Modesto Patangan,Frederic Waldman,Frederic Waldman,Hubert Stoppler,W. Kimryn Rathmell,Leigh B. Thorne,Mei Huang,Lori Boice,Ashley Hill,Carl Morrison,Carmelo Gaudioso,Wiam Bshara,Kelly Daily,Sophie C. Egea,Mark D. Pegram,Carmen Gomez-Fernandez,Rajiv Dhir,Rohit Bhargava,Adam Brufsky,Craig D. Shriver,Jeffrey A. Hooke,Jamie Leigh Campbell,Richard J. Mural,Hai Hu,Stella Somiari,Caroline Larson,Brenda Deyarmin,Leonid Kvecher,Albert J. Kovatich,Matthew J. Ellis,Thomas Stricker,Kevin P. White,Olufunmilayo I. Olopade,Chunqing Luo,Yaqin Chen,Ron Bose,Li-Wei Chang,Andrew H. Beck,Todd Pihl,Mark A. Jensen,Robert Sfeir,Ari B. Kahn,Anna Chu,Prachi Kothiyal,Zhining Wang,Eric E. Snyder,Joan Pontius,Brenda Ayala,Mark Backus,Jessica Walton,Julien Baboud,Dominique L. Berton,Matthew C. Nicholls,Deepak Srinivasan,Rohini Raman,Stanley Girshik,Peter A. Kigonya,Shelley Alonso,Rashmi N. Sanbhadti,Sean P. Barletta,David Pot,Margi Sheth,John A. Demchok,Kenna R. Mills Shaw,Liming Yang,Greg Eley,Martin L. Ferguson,Roy Tarnuzzer,Jiashan Zhang,Laura A.L. Dillon,Kenneth H. Buetow,Peter Fielding,Bradley A. Ozenberger,Mark S. Guyer,Heidi J. Sofia,Jacqueline D. Palchik +355 more
TL;DR: The ability to integrate information across platforms provided key insights into previously defined gene expression subtypes and demonstrated the existence of four main breast cancer classes when combining data from five platforms, each of which shows significant molecular heterogeneity.
Journal ArticleDOI
BLAT—The BLAST-Like Alignment Tool
TL;DR: How BLAT was optimized is described, which is more accurate and 500 times faster than popular existing tools for mRNA/DNA alignments and 50 times faster for protein alignments at sensitivity settings typically used when comparing vertebrate sequences.
Related Papers (5)
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms
Ayana Kon,Lee Yung Shih,Masashi Minamino,Masashi Sanada,Masashi Sanada,Yuichi Shiraishi,Yasunobu Nagata,Kenichi Yoshida,Yusuke Okuno,Masashige Bando,Ryuichiro Nakato,Shumpei Ishikawa,Shumpei Ishikawa,Aiko Sato-Otsubo,Genta Nagae,Aiko Nishimoto,Claudia Haferlach,Daniel Nowak,Yusuke Sato,Tamara Alpermann,Masao Nagasaki,Teppei Shimamura,Hiroko Tanaka,Kenichi Chiba,Ryo Yamamoto,Tomoyuki Yamaguchi,Makoto Otsu,Naoshi Obara,Mamiko Sakata-Yanagimoto,Tsuyoshi Nakamaki,Ken Ishiyama,Florian Nolte,Wolf-Karsten Hofmann,Shuichi Miyawaki,Shigeru Chiba,Hiraku Mori,Hiromitsu Nakauchi,H. Phillip Koeffler,H. Phillip Koeffler,Hiroyuki Aburatani,Torsten Haferlach,Katsuhiko Shirahige,Satoru Miyano,Seishi Ogawa,Seishi Ogawa +44 more
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
Timothy J. Ley,Christopher A. Miller,Li Ding,Benjamin J. Raphael,Andrew J. Mungall,Gordon Robertson,Katherine A. Hoadley,Timothy J. Triche,Peter W. Laird,Jack Baty,Lucinda Fulton,Robert S. Fulton,Sharon Heath,Joelle Kalicki-Veizer,Cyriac Kandoth,Jeffery M. Klco,Daniel C. Koboldt,Krishna L. Kanchi,Shashikant Kulkarni,Tamara Lamprecht,David E. Larson,G. Lin,Charles Lu,Michael D. McLellan,Joshua F. McMichael,Jacqueline E. Payton,Heather Schmidt,David H. Spencer,Michael H. Tomasson,John W. Wallis,Lukas D. Wartman,Mark A. Watson,John S. Welch,Michael C. Wendl,Adrian Ally,Miruna Balasundaram,Inanc Birol,Yaron S.N. Butterfield,Readman Chiu,Andy Chu,Eric Chuah,Hye Jung E. Chun,Richard Corbett,Noreen Dhalla,Ranabir Guin,An He,Carrie Hirst,Martin Hirst,Robert A. Holt,Steven J.M. Jones,Aly Karsan,Darlene Lee,Haiyan I. Li,Marco A. Marra,Michael Mayo,Richard A. Moore,Karen Mungall,Jeremy Parker,Erin Pleasance,Patrick Plettner,Jacquie Schein,Dominik Stoll,Lucas Swanson,Angela Tam,Nina Thiessen,Richard Varhol,Natasja Wye,Yongjun Zhao,Stacey Gabriel,Gad Getz,Carrie Sougnez,Lihua Zou,Mark D.M. Leiserson,Fabio Vandin,Hsin-Ta Wu,Frederick Applebaum,Stephen B. Baylin,Rehan Akbani,Bradley M. Broom,Ken Chen,Thomas C. Motter,Khanh Thi-Thuy Nguyen,John N. Weinstein,Nianziang Zhang,Martin L. Ferguson,Christopher Adams,Aaron D. Black,Jay Bowen,Julie M. Gastier-Foster,Thomas Grossman,Tara M. Lichtenberg,Lisa Wise,Tanja Davidsen,John A. Demchok,Kenna R. Mills Shaw,Margi Sheth,Heidi J. Sofia,Liming Yang,James R. Downing,Greg Eley,Shelley Alonso,Brenda Ayala,Julien Baboud,Mark Backus,Sean P. Barletta,Dominique L. Berton,Anna L. Chu,Stanley Girshik,Mark A. Jensen,Ari B. Kahn,Prachi Kothiyal,Matthew C. Nicholls,Todd Pihl,David Pot,Rohini Raman,Rashmi N. Sanbhadti,Eric E. Snyder,Deepak Srinivasan,Jessica Walton,Yunhu Wan,Zhining Wang,Jean Pierre J. Issa,Michelle M. Le Beau,Martin Carroll,Hagop M. Kantarjian,Steven M. Kornblau,Moiz S. Bootwalla,Phillip H. Lai,Hui Shen,David Van Den Berg,Daniel J. Weisenberger,Daniel C. Link,Matthew J. Walter,Bradley A. Ozenberger,Elaine R. Mardis,Peter Westervelt,Timothy A. Graubert,John F. DiPersio,Richard K. Wilson +138 more