Literature DB >> 25298093

OncoCis: annotation of cis-regulatory mutations in cancer.

Dilmi Perera1, Diego Chacon, Julie A I Thoms, Rebecca C Poulos, Adam Shlien, Dominik Beck, Peter J Campbell, John E Pimanda, Jason W H Wong.   

Abstract

Whole genome sequencing has enabled the identification of thousands of somatic mutations within non-coding genomic regions of individual cancer samples. However, identification of mutations that potentially alter gene regulation remains a major challenge. Here we present OncoCis, a new method that enables identification of potential cis-regulatory mutations using cell type-specific genome and epigenome-wide datasets along with matching gene expression data. We demonstrate that the use of cell type-specific information and gene expression can significantly reduce the number of candidate cis-regulatory mutations compared with existing tools designed for the annotation of cis-regulatory SNPs. The OncoCis webserver is freely accessible at https://powcs.med.unsw.edu.au/OncoCis/.

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Year:  2014        PMID: 25298093      PMCID: PMC4224696          DOI: 10.1186/s13059-014-0485-0

Source DB:  PubMed          Journal:  Genome Biol        ISSN: 1474-7596            Impact factor:   13.583


  35 in total

1.  Computational inference of transcriptional regulatory networks from expression profiling and transcription factor binding site identification.

Authors:  Peter M Haverty; Ulla Hansen; Zhiping Weng
Journal:  Nucleic Acids Res       Date:  2004-01-02       Impact factor: 16.971

2.  The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase.

Authors:  Myriam Roussigne; Sophia Kossida; Anne-Claire Lavigne; Thomas Clouaire; Vincent Ecochard; Alexandra Glories; François Amalric; Jean-Philippe Girard
Journal:  Trends Biochem Sci       Date:  2003-02       Impact factor: 13.807

3.  Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor.

Authors:  Todd Macfarlan; Sara Kutney; Brian Altman; Rebecca Montross; Jiujiu Yu; Debabrata Chakravarti
Journal:  J Biol Chem       Date:  2004-11-23       Impact factor: 5.157

4.  An atlas of active enhancers across human cell types and tissues.

Authors:  Robin Andersson; Claudia Gebhard; Michael Rehli; Albin Sandelin; Irene Miguel-Escalada; Ilka Hoof; Jette Bornholdt; Mette Boyd; Yun Chen; Xiaobei Zhao; Christian Schmidl; Takahiro Suzuki; Evgenia Ntini; Erik Arner; Eivind Valen; Kang Li; Lucia Schwarzfischer; Dagmar Glatz; Johanna Raithel; Berit Lilje; Nicolas Rapin; Frederik Otzen Bagger; Mette Jørgensen; Peter Refsing Andersen; Nicolas Bertin; Owen Rackham; A Maxwell Burroughs; J Kenneth Baillie; Yuri Ishizu; Yuri Shimizu; Erina Furuhata; Shiori Maeda; Yutaka Negishi; Christopher J Mungall; Terrence F Meehan; Timo Lassmann; Masayoshi Itoh; Hideya Kawaji; Naoto Kondo; Jun Kawai; Andreas Lennartsson; Carsten O Daub; Peter Heutink; David A Hume; Torben Heick Jensen; Harukazu Suzuki; Yoshihide Hayashizaki; Ferenc Müller; Alistair R R Forrest; Piero Carninci
Journal:  Nature       Date:  2014-03-27       Impact factor: 49.962

5.  A promoter-level mammalian expression atlas.

Authors:  Alistair R R Forrest; Hideya Kawaji; Michael Rehli; J Kenneth Baillie; Michiel J L de Hoon; Vanja Haberle; Timo Lassmann; Ivan V Kulakovskiy; Marina Lizio; Masayoshi Itoh; Robin Andersson; Christopher J Mungall; Terrence F Meehan; Sebastian Schmeier; Nicolas Bertin; Mette Jørgensen; Emmanuel Dimont; Erik Arner; Christian Schmidl; Ulf Schaefer; Yulia A Medvedeva; Charles Plessy; Morana Vitezic; Jessica Severin; Colin A Semple; Yuri Ishizu; Robert S Young; Margherita Francescatto; Intikhab Alam; Davide Albanese; Gabriel M Altschuler; Takahiro Arakawa; John A C Archer; Peter Arner; Magda Babina; Sarah Rennie; Piotr J Balwierz; Anthony G Beckhouse; Swati Pradhan-Bhatt; Judith A Blake; Antje Blumenthal; Beatrice Bodega; Alessandro Bonetti; James Briggs; Frank Brombacher; A Maxwell Burroughs; Andrea Califano; Carlo V Cannistraci; Daniel Carbajo; Yun Chen; Marco Chierici; Yari Ciani; Hans C Clevers; Emiliano Dalla; Carrie A Davis; Michael Detmar; Alexander D Diehl; Taeko Dohi; Finn Drabløs; Albert S B Edge; Matthias Edinger; Karl Ekwall; Mitsuhiro Endoh; Hideki Enomoto; Michela Fagiolini; Lynsey Fairbairn; Hai Fang; Mary C Farach-Carson; Geoffrey J Faulkner; Alexander V Favorov; Malcolm E Fisher; Martin C Frith; Rie Fujita; Shiro Fukuda; Cesare Furlanello; Masaaki Furino; Jun-ichi Furusawa; Teunis B Geijtenbeek; Andrew P Gibson; Thomas Gingeras; Daniel Goldowitz; Julian Gough; Sven Guhl; Reto Guler; Stefano Gustincich; Thomas J Ha; Masahide Hamaguchi; Mitsuko Hara; Matthias Harbers; Jayson Harshbarger; Akira Hasegawa; Yuki Hasegawa; Takehiro Hashimoto; Meenhard Herlyn; Kelly J Hitchens; Shannan J Ho Sui; Oliver M Hofmann; Ilka Hoof; Furni Hori; Lukasz Huminiecki; Kei Iida; Tomokatsu Ikawa; Boris R Jankovic; Hui Jia; Anagha Joshi; Giuseppe Jurman; Bogumil Kaczkowski; Chieko Kai; Kaoru Kaida; Ai Kaiho; Kazuhiro Kajiyama; Mutsumi Kanamori-Katayama; Artem S Kasianov; Takeya Kasukawa; Shintaro Katayama; Sachi Kato; Shuji Kawaguchi; Hiroshi Kawamoto; Yuki I Kawamura; Tsugumi Kawashima; Judith S Kempfle; Tony J Kenna; Juha Kere; Levon M Khachigian; Toshio Kitamura; S Peter Klinken; Alan J Knox; Miki Kojima; Soichi Kojima; Naoto Kondo; Haruhiko Koseki; Shigeo Koyasu; Sarah Krampitz; Atsutaka Kubosaki; Andrew T Kwon; Jeroen F J Laros; Weonju Lee; Andreas Lennartsson; Kang Li; Berit Lilje; Leonard Lipovich; Alan Mackay-Sim; Ri-ichiroh Manabe; Jessica C Mar; Benoit Marchand; Anthony Mathelier; Niklas Mejhert; Alison Meynert; Yosuke Mizuno; David A de Lima Morais; Hiromasa Morikawa; Mitsuru Morimoto; Kazuyo Moro; Efthymios Motakis; Hozumi Motohashi; Christine L Mummery; Mitsuyoshi Murata; Sayaka Nagao-Sato; Yutaka Nakachi; Fumio Nakahara; Toshiyuki Nakamura; Yukio Nakamura; Kenichi Nakazato; Erik van Nimwegen; Noriko Ninomiya; Hiromi Nishiyori; Shohei Noma; Shohei Noma; Tadasuke Noazaki; Soichi Ogishima; Naganari Ohkura; Hiroko Ohimiya; Hiroshi Ohno; Mitsuhiro Ohshima; Mariko Okada-Hatakeyama; Yasushi Okazaki; Valerio Orlando; Dmitry A Ovchinnikov; Arnab Pain; Robert Passier; Margaret Patrikakis; Helena Persson; Silvano Piazza; James G D Prendergast; Owen J L Rackham; Jordan A Ramilowski; Mamoon Rashid; Timothy Ravasi; Patrizia Rizzu; Marco Roncador; Sugata Roy; Morten B Rye; Eri Saijyo; Antti Sajantila; Akiko Saka; Shimon Sakaguchi; Mizuho Sakai; Hiroki Sato; Suzana Savvi; Alka Saxena; Claudio Schneider; Erik A Schultes; Gundula G Schulze-Tanzil; Anita Schwegmann; Thierry Sengstag; Guojun Sheng; Hisashi Shimoji; Yishai Shimoni; Jay W Shin; Christophe Simon; Daisuke Sugiyama; Takaai Sugiyama; Masanori Suzuki; Naoko Suzuki; Rolf K Swoboda; Peter A C 't Hoen; Michihira Tagami; Naoko Takahashi; Jun Takai; Hiroshi Tanaka; Hideki Tatsukawa; Zuotian Tatum; Mark Thompson; Hiroo Toyodo; Tetsuro Toyoda; Elvind Valen; Marc van de Wetering; Linda M van den Berg; Roberto Verado; Dipti Vijayan; Ilya E Vorontsov; Wyeth W Wasserman; Shoko Watanabe; Christine A Wells; Louise N Winteringham; Ernst Wolvetang; Emily J Wood; Yoko Yamaguchi; Masayuki Yamamoto; Misako Yoneda; Yohei Yonekura; Shigehiro Yoshida; Susan E Zabierowski; Peter G Zhang; Xiaobei Zhao; Silvia Zucchelli; Kim M Summers; Harukazu Suzuki; Carsten O Daub; Jun Kawai; Peter Heutink; Winston Hide; Tom C Freeman; Boris Lenhard; Vladimir B Bajic; Martin S Taylor; Vsevolod J Makeev; Albin Sandelin; David A Hume; Piero Carninci; Yoshihide Hayashizaki
Journal:  Nature       Date:  2014-03-27       Impact factor: 49.962

6.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

7.  DGIdb: mining the druggable genome.

Authors:  Malachi Griffith; Obi L Griffith; Adam C Coffman; James V Weible; Josh F McMichael; Nicholas C Spies; James Koval; Indraniel Das; Matthew B Callaway; James M Eldred; Christopher A Miller; Janakiraman Subramanian; Ramaswamy Govindan; Runjun D Kumar; Ron Bose; Li Ding; Jason R Walker; David E Larson; David J Dooling; Scott M Smith; Timothy J Ley; Elaine R Mardis; Richard K Wilson
Journal:  Nat Methods       Date:  2013-10-13       Impact factor: 28.547

8.  Functional annotation of noncoding sequence variants.

Authors:  Graham R S Ritchie; Ian Dunham; Eleftheria Zeggini; Paul Flicek
Journal:  Nat Methods       Date:  2014-02-02       Impact factor: 28.547

9.  rSNPBase: a database for curated regulatory SNPs.

Authors:  Liyuan Guo; Yang Du; Suhua Chang; Kunlin Zhang; Jing Wang
Journal:  Nucleic Acids Res       Date:  2013-11-26       Impact factor: 16.971

10.  JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles.

Authors:  Anthony Mathelier; Xiaobei Zhao; Allen W Zhang; François Parcy; Rebecca Worsley-Hunt; David J Arenillas; Sorana Buchman; Chih-yu Chen; Alice Chou; Hans Ienasescu; Jonathan Lim; Casper Shyr; Ge Tan; Michelle Zhou; Boris Lenhard; Albin Sandelin; Wyeth W Wasserman
Journal:  Nucleic Acids Res       Date:  2013-11-04       Impact factor: 16.971

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  13 in total

Review 1.  Functional variomics and network perturbation: connecting genotype to phenotype in cancer.

Authors:  Song Yi; Shengda Lin; Yongsheng Li; Wei Zhao; Gordon B Mills; Nidhi Sahni
Journal:  Nat Rev Genet       Date:  2017-03-27       Impact factor: 53.242

2.  SNP2TFBS - a database of regulatory SNPs affecting predicted transcription factor binding site affinity.

Authors:  Sunil Kumar; Giovanna Ambrosini; Philipp Bucher
Journal:  Nucleic Acids Res       Date:  2016-11-28       Impact factor: 16.971

3.  Quantifying the Impact of Non-coding Variants on Transcription Factor-DNA Binding.

Authors:  Jingkang Zhao; Dongshunyi Li; Jungkyun Seo; Andrew S Allen; Raluca Gordân
Journal:  Res Comput Mol Biol       Date:  2017-04-12

Review 4.  Role of non-coding sequence variants in cancer.

Authors:  Ekta Khurana; Yao Fu; Dimple Chakravarty; Francesca Demichelis; Mark A Rubin; Mark Gerstein
Journal:  Nat Rev Genet       Date:  2016-01-19       Impact factor: 53.242

Review 5.  Finding cancer driver mutations in the era of big data research.

Authors:  Rebecca C Poulos; Jason W H Wong
Journal:  Biophys Rev       Date:  2018-04-02

6.  atSNP Search: a web resource for statistically evaluating influence of human genetic variation on transcription factor binding.

Authors:  Sunyoung Shin; Rebecca Hudson; Christopher Harrison; Mark Craven; Sündüz Keleş
Journal:  Bioinformatics       Date:  2019-08-01       Impact factor: 6.937

7.  A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Authors:  Anthony Ferrari; Anne Vincent-Salomon; Xavier Pivot; Anne-Sophie Sertier; Emilie Thomas; Laurie Tonon; Sandrine Boyault; Eskeatnaf Mulugeta; Isabelle Treilleux; Gaëtan MacGrogan; Laurent Arnould; Janice Kielbassa; Vincent Le Texier; Hélène Blanché; Jean-François Deleuze; Jocelyne Jacquemier; Marie-Christine Mathieu; Frédérique Penault-Llorca; Frédéric Bibeau; Odette Mariani; Cécile Mannina; Jean-Yves Pierga; Olivier Trédan; Thomas Bachelot; Hervé Bonnefoi; Gilles Romieu; Pierre Fumoleau; Suzette Delaloge; Maria Rios; Jean-Marc Ferrero; Carole Tarpin; Catherine Bouteille; Fabien Calvo; Ivo Glynne Gut; Marta Gut; Sancha Martin; Serena Nik-Zainal; Michael R Stratton; Iris Pauporté; Pierre Saintigny; Daniel Birnbaum; Alain Viari; Gilles Thomas
Journal:  Nat Commun       Date:  2016-07-13       Impact factor: 14.919

Review 8.  Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer.

Authors:  Holger Heyn
Journal:  PLoS Genet       Date:  2016-03-03       Impact factor: 5.917

9.  Identification of High-Impact cis-Regulatory Mutations Using Transcription Factor Specific Random Forest Models.

Authors:  Dmitry Svetlichnyy; Hana Imrichova; Mark Fiers; Zeynep Kalender Atak; Stein Aerts
Journal:  PLoS Comput Biol       Date:  2015-11-12       Impact factor: 4.475

10.  Exome-based Variant Detection in Core Promoters.

Authors:  Yeong C Kim; Jian Cui; Jiangtao Luo; Fengxia Xiao; Bradley Downs; San Ming Wang
Journal:  Sci Rep       Date:  2016-07-28       Impact factor: 4.379

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