Literature DB >> 25297069

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data.

Javad Nadaf1, Jacek Majewski1, Somayyeh Fahiminiya1.   

Abstract

SUMMARY: Whole-exome sequencing (WES) has extensively been used in cancer genome studies; however, the use of WES data in the study of loss of heterozygosity or more generally allelic imbalance (AI) has so far been very limited, which highlights the need for user-friendly and flexible software that can handle low-quality datasets. We have developed a statistical approach, ExomeAI, for the detection of recurrent AI events using WES datasets, specifically where matched normal samples are not available. AVAILABILITY: ExomeAI is a web-based application, publicly available at: http://genomequebec.mcgill.ca/exomeai. CONTACT: JavadNadaf@gmail.com or somayyeh.fahiminiya@mcgill.ca SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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Year:  2014        PMID: 25297069      PMCID: PMC4308664          DOI: 10.1093/bioinformatics/btu665

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  10 in total

1.  Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA.

Authors:  Kwong-Kwok Wong; Yvonne T M Tsang; Jianhe Shen; Rita S Cheng; Yi-Mieng Chang; Tsz-Kwong Man; Ching C Lau
Journal:  Nucleic Acids Res       Date:  2004-05-17       Impact factor: 16.971

2.  A faster circular binary segmentation algorithm for the analysis of array CGH data.

Authors:  E S Venkatraman; Adam B Olshen
Journal:  Bioinformatics       Date:  2007-01-18       Impact factor: 6.937

3.  Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Authors:  Leora Witkowski; Jian Carrot-Zhang; Steffen Albrecht; Somayyeh Fahiminiya; Nancy Hamel; Eva Tomiak; David Grynspan; Emmanouil Saloustros; Javad Nadaf; Barbara Rivera; Catherine Gilpin; Ester Castellsagué; Rachel Silva-Smith; François Plourde; Mona Wu; Avi Saskin; Madeleine Arseneault; Rouzan G Karabakhtsian; Elizabeth A Reilly; Frederick R Ueland; Anna Margiolaki; Kitty Pavlakis; Sharon M Castellino; Janez Lamovec; Helen J Mackay; Lawrence M Roth; Thomas M Ulbright; Tracey A Bender; Vassilis Georgoulias; Michel Longy; Andrew Berchuck; Marc Tischkowitz; Inga Nagel; Reiner Siebert; Colin J R Stewart; Jocelyne Arseneau; W Glenn McCluggage; Blaise A Clarke; Yasser Riazalhosseini; Martin Hasselblatt; Jacek Majewski; William D Foulkes
Journal:  Nat Genet       Date:  2014-03-23       Impact factor: 38.330

4.  Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.

Authors:  Jarupon Fah Sathirapongsasuti; Hane Lee; Basil A J Horst; Georg Brunner; Alistair J Cochran; Scott Binder; John Quackenbush; Stanley F Nelson
Journal:  Bioinformatics       Date:  2011-08-09       Impact factor: 6.937

5.  An evaluation of copy number variation detection tools from whole-exome sequencing data.

Authors:  Renjie Tan; Yadong Wang; Sarah E Kleinstein; Yongzhuang Liu; Xiaolin Zhu; Hongzhe Guo; Qinghua Jiang; Andrew S Allen; Mingfu Zhu
Journal:  Hum Mutat       Date:  2014-05-01       Impact factor: 4.878

6.  Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.

Authors:  Claudia L Kleinman; Noha Gerges; Simon Papillon-Cavanagh; Patrick Sin-Chan; Albena Pramatarova; Dong-Anh Khuong Quang; Véronique Adoue; Stephan Busche; Maxime Caron; Haig Djambazian; Amandine Bemmo; Adam M Fontebasso; Tara Spence; Jeremy Schwartzentruber; Steffen Albrecht; Peter Hauser; Miklos Garami; Almos Klekner; Laszlo Bognar; Jose-Luis Montes; Alfredo Staffa; Alexandre Montpetit; Pierre Berube; Magdalena Zakrzewska; Krzysztof Zakrzewski; Pawel P Liberski; Zhifeng Dong; Peter M Siegel; Thomas Duchaine; Christian Perotti; Adam Fleming; Damien Faury; Marc Remke; Marco Gallo; Peter Dirks; Michael D Taylor; Robert Sladek; Tomi Pastinen; Jennifer A Chan; Annie Huang; Jacek Majewski; Nada Jabado
Journal:  Nat Genet       Date:  2013-12-08       Impact factor: 38.330

7.  Comparative analysis of methods for identifying somatic copy number alterations from deep sequencing data.

Authors:  Amjad Alkodsi; Riku Louhimo; Sampsa Hautaniemi
Journal:  Brief Bioinform       Date:  2014-03-05       Impact factor: 11.622

8.  Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences.

Authors:  Jeremy Goecks; Anton Nekrutenko; James Taylor
Journal:  Genome Biol       Date:  2010-08-25       Impact factor: 13.583

9.  Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays.

Authors:  Johan Staaf; David Lindgren; Johan Vallon-Christersson; Anders Isaksson; Hanna Göransson; Gunnar Juliusson; Richard Rosenquist; Mattias Höglund; Ake Borg; Markus Ringnér
Journal:  Genome Biol       Date:  2008-09-16       Impact factor: 13.583

Review 10.  Computational methods for detecting copy number variations in cancer genome using next generation sequencing: principles and challenges.

Authors:  Biao Liu; Carl D Morrison; Candace S Johnson; Donald L Trump; Maochun Qin; Jeffrey C Conroy; Jianmin Wang; Song Liu
Journal:  Oncotarget       Date:  2013-11
  10 in total
  9 in total

1.  Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.

Authors:  Barbara Rivera; Tenzin Gayden; Jian Carrot-Zhang; Javad Nadaf; Talia Boshari; Damien Faury; Michele Zeinieh; Romeo Blanc; David L Burk; Somayyeh Fahiminiya; Eric Bareke; Ulrich Schüller; Camelia M Monoranu; Ronald Sträter; Kornelius Kerl; Thomas Niederstadt; Gerhard Kurlemann; Benjamin Ellezam; Zuzanna Michalak; Maria Thom; Paul J Lockhart; Richard J Leventer; Milou Ohm; Duncan MacGregor; David Jones; Jason Karamchandani; Celia M T Greenwood; Albert M Berghuis; Susanne Bens; Reiner Siebert; Magdalena Zakrzewska; Pawel P Liberski; Krzysztof Zakrzewski; Sanjay M Sisodiya; Werner Paulus; Steffen Albrecht; Martin Hasselblatt; Nada Jabado; William D Foulkes; Jacek Majewski
Journal:  Acta Neuropathol       Date:  2016-02-26       Impact factor: 17.088

2.  DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Authors:  Barbara Rivera; Javad Nadaf; Somayyeh Fahiminiya; Maria Apellaniz-Ruiz; Avi Saskin; Anne-Sophie Chong; Sahil Sharma; Rabea Wagener; Timothée Revil; Vincenzo Condello; Zineb Harra; Nancy Hamel; Nelly Sabbaghian; Karl Muchantef; Christian Thomas; Leanne de Kock; Marie-Noëlle Hébert-Blouin; Angelia V Bassenden; Hannah Rabenstein; Ozgur Mete; Ralf Paschke; Marc P Pusztaszeri; Werner Paulus; Albert Berghuis; Jiannis Ragoussis; Yuri E Nikiforov; Reiner Siebert; Steffen Albrecht; Robert Turcotte; Martin Hasselblatt; Marc R Fabian; William D Foulkes
Journal:  J Clin Invest       Date:  2020-03-02       Impact factor: 14.808

Review 3.  A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data.

Authors:  Jennifer D Hintzsche; William A Robinson; Aik Choon Tan
Journal:  Int J Genomics       Date:  2016-12-14       Impact factor: 2.326

4.  Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Authors:  Ralph Salloum; Melissa K McConechy; Leonie G Mikael; Christine Fuller; Rachid Drissi; Mariko DeWire; Hamid Nikbakht; Nicolas De Jay; Xiaodan Yang; Daniel Boue; Lionel M L Chow; Jonathan L Finlay; Tenzin Gayden; Jason Karamchandani; Trent R Hummel; Randal Olshefski; Diana S Osorio; Charles Stevenson; Claudia L Kleinman; Jacek Majewski; Maryam Fouladi; Nada Jabado
Journal:  Acta Neuropathol Commun       Date:  2017-10-30       Impact factor: 7.801

5.  Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

Authors:  Ismaël Bah; Somayyeh Fahiminiya; Louis R Bégin; Nancy Hamel; Maria D D'Agostino; Simon Tanguay; William D Foulkes
Journal:  J Pathol Clin Res       Date:  2018-06-13

6.  Outcome and molecular analysis of young children with choroid plexus carcinoma treated with non-myeloablative therapy: results from the SJYC07 trial.

Authors:  Anthony P Y Liu; Gang Wu; Brent A Orr; Tong Lin; Jason M Ashford; Johnnie K Bass; Daniel C Bowers; Tim Hassall; Paul G Fisher; Daniel J Indelicato; Paul Klimo; Frederick Boop; Heather Conklin; Arzu Onar-Thomas; Thomas E Merchant; David W Ellison; Amar Gajjar; Giles W Robinson
Journal:  Neurooncol Adv       Date:  2020-12-15

7.  Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant.

Authors:  Alexandre Bazinet; John Heath; Anne-Sophie Chong; Estelle R Simo-Cheyou; Samantha Worme; Barbara Rivera Polo; William D Foulkes; Stephen Caplan; Nathalie A Johnson; Alexandre Orthwein; François E Mercier
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-06-11

8.  Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma.

Authors:  Hamid Nikbakht; Eshini Panditharatna; Leonie G Mikael; Rui Li; Tenzin Gayden; Matthew Osmond; Cheng-Ying Ho; Madhuri Kambhampati; Eugene I Hwang; Damien Faury; Alan Siu; Simon Papillon-Cavanagh; Denise Bechet; Keith L Ligon; Benjamin Ellezam; Wendy J Ingram; Caedyn Stinson; Andrew S Moore; Katherine E Warren; Jason Karamchandani; Roger J Packer; Nada Jabado; Jacek Majewski; Javad Nazarian
Journal:  Nat Commun       Date:  2016-04-06       Impact factor: 14.919

9.  Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.

Authors:  Somayyeh Fahiminiya; Leora Witkowski; Javad Nadaf; Jian Carrot-Zhang; Catherine Goudie; Martin Hasselblatt; Pascal Johann; Marcel Kool; Ryan S Lee; Tenzin Gayden; Charles W M Roberts; Jaclyn A Biegel; Nada Jabado; Jacek Majewski; William D Foulkes
Journal:  Oncotarget       Date:  2016-01-12
  9 in total

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