The UCSC genome browser and associated tools
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TLDR
The UCSC Genome Browser is a graphical viewer for genomic data that presents visualization of annotations mapped to genomic coordinates, and the ability to juxtapose annotations of many types facilitates inquiry-driven data mining.Abstract:
The UCSC Genome Browser (http://genome.ucsc.edu) is a graphical viewer for genomic data now in its 13th year. Since the early days of the Human Genome Project, it has presented an integrated view of genomic data of many kinds. Now home to assemblies for 58 organisms, the Browser presents visualization of annotations mapped to genomic coordinates. The ability to juxtapose annotations of many types facilitates inquiry-driven data mining. Gene predictions, mRNA alignments, epigenomic data from the ENCODE project, conservation scores from vertebrate whole-genome alignments and variation data may be viewed at any scale from a single base to an entire chromosome. The Browser also includes many other widely used tools, including BLAT, which is useful for alignments from high-throughput sequencing experiments. Private data uploaded as Custom Tracks and Data Hubs in many formats may be displayed alongside the rich compendium of precomputed data in the UCSC database. The Table Browser is a full-featured graphical interface, which allows querying, filtering and intersection of data tables. The Saved Session feature allows users to store and share customized views, enhancing the utility of the system for organizing multiple trains of thought. Binary Alignment/Map (BAM), Variant Call Format and the Personal Genome Single Nucleotide Polymorphisms (SNPs) data formats are useful for visualizing a large sequencing experiment (whole-genome or whole-exome), where the differences between the data set and the reference assembly may be displayed graphically. Support for high-throughput sequencing extends to compact, indexed data formats, such as BAM, bigBed and bigWig, allowing rapid visualization of large datasets from RNA-seq and ChIP-seq experiments via local hosting.read more
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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
Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer
A. Gordon Robertson,Jaegil Kim,Hikmat Al-Ahmadie,Joaquim Bellmunt,Guangwu Guo,Andrew D. Cherniack,Toshinori Hinoue,Peter W. Laird,Katherine A. Hoadley,Rehan Akbani,Mauro A. A. Castro,Ewan A. Gibb,Rupa S. Kanchi,Dmitry A. Gordenin,Sachet A. Shukla,Francisco Sanchez-Vega,Donna E. Hansel,Bogdan Czerniak,Victor E. Reuter,Xiaoping Su,Benilton S. Carvalho,Vinicius S Chagas,Karen Mungall,Sara Sadeghi,Chandra Sekhar Pedamallu,Yiling Lu,Leszek J. Klimczak,Jiexin Zhang,Caleb Choo,Akinyemi I. Ojesina,Susan Bullman,Kristen M. Leraas,Tara M. Lichtenberg,Catherine J. Wu,N. Schultz,Gad Getz,Matthew Meyerson,Gordon B. Mills,David J. McConkey,Monique Albert,Iakovina Alexopoulou,Adrian Ally,Tatjana Antic,Manju Aron,Miruna Balasundaram,John M. S. Bartlett,Stephen B. Baylin,Allison Beaver,Inanc Birol,Lori Boice,Moiz S. Bootwalla,Jay Bowen,Reanne Bowlby,Denise Brooks,Bradley M. Broom,Wiam Bshara,Eric J. Burks,Flavio Mavignier Carcano,Rebecca Carlsen,André Lopes Carvalho,Eric P. Castle,Patricia Castro,James W.F. Catto,David Chesla,Eric Chuah,Sudha Chudamani,Victoria K. Cortessis,Sandra Cottingham,Daniel Crain,Erin Curley,Siamak Daneshmand,John A. Demchok,Noreen Dhalla,Hooman Djaladat,John Eckman,Sophie C. Egea,Jay Engel,Ina Felau,Martin L. Ferguson,Johanna Gardner,Julie M. Gastier-Foster,Mark Gerken,Carmen Gomez-Fernandez,Jodi Harr,Arndt Hartmann,Lynn M. Herbert,Thai H. Ho,Robert A. Holt,Carolyn M. Hutter,Steven J.M. Jones,Merce Jorda,Richard J. Kahnoski,Katayoon Kasaian,David J. Kwiatkowski,Phillip H. Lai,Brian R. Lane,Seth P. Lerner,Jia Liu,Laxmi Lolla,Yair Lotan,Fabiano R. Lucchesi,Yussanne Ma,Roberto Dias Machado,Dennis T. Maglinte,David Mallery,Marco A. Marra,Sue E. Martin,Michael Mayo,Anoop Meraney,Alireza Moinzadeh,Richard A. Moore,Edna M. Mora Pinero,Scott Morris,Carl Morrison,Andrew J. Mungall,Jerome Myers,Rashi Naresh,Peter H. O'Donnell,Dipen J. Parekh,Jeremy Parfitt,Joseph Paulauskis,Robert Penny,Todd Pihl,Sima P. Porten,Mario Quintero-Aguilo,Nilsa C. Ramirez,W. Kimryn Rathmell,Kimberly M. Rieger-Christ,Charles Saller,Andrew Salner,George E. Sandusky,Cristovam Scapulatempo-Neto,Jacqueline E. Schein,Anne Schuckman,Candace Shelton,Troy Shelton,Jeff Simko,Parminder Singh,Payal Sipahimalani,Norm D. Smith,Heidi J. Sofia,Andrea Sorcini,Melissa L. Stanton,Gary D. Steinberg,Robert Stoehr,Travis Sullivan,Qiang Sun,Angela Tam,Roy Tarnuzzer,Katherine Tarvin,Helge Taubert,Nina Thiessen,Leigh B. Thorne,Kane Tse,Kelinda Tucker,David Van Den Berg,Kim E.M. van Kessel,Sven Wach,Yunhu Wan,Zhining Wang,John N. Weinstein,Daniel J. Weisenberger,Lisa Wise,Tina Wong,Ye Wu,Liming Yang,Leigh Anne Zach,Jean C. Zenklusen,Jiashan Zhang,Erik Zmuda,Ellen C. Zwarthoff +170 more
TL;DR: An analysis of 412 muscle-invasive bladder cancers characterized by multiple TCGA analytical platforms identified 5 expression subtypes that may stratify response to different treatments and identified a poor-survival "neuronal" subtype in which the majority of tumors lacked small cell or neuroendocrine histology.
Journal ArticleDOI
Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma
Adrian Ally,Miruna Balasundaram,Rebecca Carlsen,Eric Chuah,Amanda Clarke,Noreen Dhalla,Robert A. Holt,Steven J.M. Jones,Darlene Lee,Yussanne Ma,Marco A. Marra,Michael Mayo,Richard A. Moore,Andrew J. Mungall,Jacqueline E. Schein,Payal Sipahimalani,Angela Tam,Nina Thiessen,Dorothy Cheung,Tina Wong,Denise Brooks,A. Gordon Robertson,Reanne Bowlby,Karen Mungall,Sara Sadeghi,Liu Xi,Kyle R. Covington,Eve Shinbrot,David A. Wheeler,Richard A. Gibbs,Lawrence A. Donehower,Linghua Wang,Jay Bowen,Julie M. Gastier-Foster,Mark Gerken,Carmen Helsel,Kristen M. Leraas,Tara M. Lichtenberg,Nilsa C. Ramirez,Lisa Wise,Erik Zmuda,Stacey Gabriel,Matthew Meyerson,Carrie Cibulskis,Bradley A. Murray,Juliann Shih,Rameen Beroukhim,Andrew D. Cherniack,Steven E. Schumacher,Gordon Saksena,Chandra Sekhar Pedamallu,Lynda Chin,Gad Getz,Michael S. Noble,Hailei Zhang,David I. Heiman,Juok Cho,Nils Gehlenborg,Douglas Voet,Pei Lin,Scott Frazer,Timothy Defreitas,Sam Meier,Michael S. Lawrence,Jaegil Kim,Chad J. Creighton,Donna M. Muzny,Harshavardhan Doddapaneni,Jianhong Hu,Min Wang,Donna Morton,Viktoriya Korchina,Yi Han,Huyen Dinh,Lora Lewis,Michelle Bellair,Xiuping Liu,Jireh Santibanez,Robert Glenn,Sandra Lee,Walker Hale,Joel S. Parker,Matthew D. Wilkerson,D. Neil Hayes,Sheila Reynolds,Ilya Shmulevich,Wei Zhang,Yuexin Liu,Lisa Iype,Hala Makhlouf,Michael Torbenson,Sanjay Kakar,Matthew M. Yeh,Dhanpat Jain,David E. Kleiner,Renumathy Dhanasekaran,Hashem B. El-Serag,Sun Young Yim,John N. Weinstein,Lopa Mishra,Jianping Zhang,Rehan Akbani,Shiyun Ling,Zhenlin Ju,Xiaoping Su,Apurva M. Hegde,Gordon B. Mills,Yiling Lu,Jian Chen,Ju Seog Lee,Bo Hwa Sohn,Jae-Jun Shim,Pan Tong,Hiroyuki Aburatani,Shogo Yamamoto,Kenji Tatsuno,Wei Li,Zheng Xia,Nicolas Stransky,Eric Seiser,Federico Innocenti,Jianjiong Gao,Ritika Kundra,Hongxin Zhang,Zachary J. Heins,Angelica Ochoa,Chris Sander,Marc Ladanyi,Ronglai Shen,Arshi Arora,Francisco Sanchez-Vega,Nikolaus Schultz,Katayoon Kasaian,Amie Radenbaugh,Karl-Dimiter Bissig,David D. Moore,Yasushi Totoki,Hiromi Nakamura,Tatsuhiro Shibata,Christina Yau,Kiley Graim,Josh Stuart,David Haussler,Betty L. Slagle,Akinyemi I. Ojesina,Panagiotis Katsonis,Amanda Koire,Olivier Lichtarge,Teng-Kuei Hsu,Martin L. Ferguson,John A. Demchok,Ina Felau,Margi Sheth,Roy Tarnuzzer,Zhining Wang,Liming Yang,Jean C. Zenklusen,Jiashan Zhang,Carolyn M. Hutter,Heidi J. Sofia,Roel G.W. Verhaak,Siyuan Zheng,Frederick Lang,Sudha Chudamani,Jia Liu,Laxmi Lolla,Ye Wu,Rashi Naresh,Todd Pihl,Charlie Sun,Yunhu Wan,Christopher C. Benz,Amy H. Perou,Leigh B. Thorne,Lori Boice,Mei Huang,W. Kimryn Rathmell,Houtan Noushmehr,Fabiano Pinto Saggioro,Daniela Pretti da Cunha Tirapelli,Carlos Gilberto Carlotti Junior,Enio David Mente,Orlando de Castro Silva,Felipe Amstalden Trevisan,Koo Jeong Kang,Keun Soo Ahn,Nasra H. Giama,Catherine D. Moser,Thomas J. Giordano,Michelle Vinco,Theodore H. Welling,Daniel Crain,Erin Curley,Johanna Gardner,David Mallery,Scott Morris,Joseph Paulauskis,Robert Penny,Candace Shelton,Troy Shelton,Robin Kate Kelley,Joong-Won Park,Vishal S. Chandan,Lewis R. Roberts,Oliver F. Bathe,Curt H. Hagedorn,J. Todd Auman,Daniel R. O'Brien,Jean-Pierre A. Kocher,Corbin D. Jones,Piotr A. Mieczkowski,Charles M. Perou,Tara Skelly,Donghui Tan,Umadevi Veluvolu,Saianand Balu,Tom Bodenheimer,Alan P. Hoyle,Stuart R. Jefferys,Shaowu Meng,Lisle E. Mose,Yan Shi,Janae V. Simons,Matthew G. Soloway,Jeffrey Roach,Katherine A. Hoadley,Stephen B. Baylin,Hui Shen,Toshinori Hinoue,Moiz S. Bootwalla,David Van Den Berg,Daniel J. Weisenberger,Phillip H. Lai,Andrea Holbrook,Mario Berrios,Peter W. Laird +235 more
TL;DR: Integrative molecular HCC subtyping incorporating unsupervised clustering of five data platforms identified three subtypes, one of which was associated with poorer prognosis in three HCC cohorts and development of a p53 target gene expression signature correlating with poor survival was enabled.
Journal ArticleDOI
The UCSC Genome Browser database: 2015 update
Kate R. Rosenbloom,Joel Armstrong,Galt P. Barber,Jonathan Casper,Hiram Clawson,Mark Diekhans,Timothy R. Dreszer,Pauline A. Fujita,Luvina Guruvadoo,Maximilian Haeussler,Rachel A. Harte,Steven G. Heitner,Glenn Hickey,Angie S. Hinrichs,Robert Hubley,Donna Karolchik,Katrina Learned,Brian T. Lee,Chin H. Li,Karen H. Miga,Ngan Nguyen,Benedict Paten,Brian J. Raney,Arian F.A. Smit,Matthew L. Speir,Ann S. Zweig,David Haussler,Robert M. Kuhn,W. James Kent +28 more
TL;DR: A browser for the first new human genome reference assembly in 4 years in December 2013, a watershed comparative genomics annotation (100-species multiple alignment and conservation), and a novel distribution mechanism for the browser are among the highlights of the past year.
Journal ArticleDOI
The UCSC Genome Browser database: 2016 update.
Matthew L. Speir,Ann S. Zweig,Kate R. Rosenbloom,Brian J. Raney,Benedict Paten,Parisa Nejad,Brian T. Lee,Katrina Learned,Donna Karolchik,Angie S. Hinrichs,Steve Heitner,Rachel A. Harte,Maximilian Haeussler,Luvina Guruvadoo,Pauline A. Fujita,Christopher Eisenhart,Mark Diekhans,Hiram Clawson,Jonathan Casper,Galt P. Barber,David Haussler,Robert M. Kuhn,W. James Kent +22 more
TL;DR: The UCSC Genome Browser has greatly expanded the data sets available on the most recent human assembly, hg38/GRCh38, to include updated gene prediction sets from GENCODE, more phenotype- and disease-associated variants from ClinVar and ClinGen, more genomic regulatory data, and a new multiple genome alignment.
References
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Journal ArticleDOI
Gapped BLAST and PSI-BLAST: a new generation of protein database search programs.
Stephen F. Altschul,Thomas L. Madden,Alejandro A. Schäffer,Jinghui Zhang,Zheng Zhang,Webb Miller,David J. Lipman +6 more
TL;DR: A new criterion for triggering the extension of word hits, combined with a new heuristic for generating gapped alignments, yields a gapped BLAST program that runs at approximately three times the speed of the original.
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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
The variant call format and VCFtools
Petr Danecek,Adam Auton,Gonçalo R. Abecasis,Cornelis A. Albers,Eric Banks,Mark A. DePristo,Robert E. Handsaker,Gerton Lunter,Gabor T. Marth,Stephen T. Sherry,Gilean McVean,Richard Durbin +11 more
TL;DR: VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API.
Journal ArticleDOI
The Human Genome Browser at UCSC
W. James Kent,Charles W. Sugnet,Terrence S. Furey,Krishna M. Roskin,Tom H. Pringle,Alan M. Zahler,and David Haussler +6 more
TL;DR: A mature web tool for rapid and reliable display of any requested portion of the genome at any scale, together with several dozen aligned annotation tracks, is provided at http://genome.ucsc.edu.
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