Literature DB >> 23900255

Computational approaches to identify functional genetic variants in cancer genomes.

Abel Gonzalez-Perez1, Ville Mustonen, Boris Reva, Graham R S Ritchie, Pau Creixell, Rachel Karchin, Miguel Vazquez, J Lynn Fink, Karin S Kassahn, John V Pearson, Gary D Bader, Paul C Boutros, Lakshmi Muthuswamy, B F Francis Ouellette, Jüri Reimand, Rune Linding, Tatsuhiro Shibata, Alfonso Valencia, Adam Butler, Serge Dronov, Paul Flicek, Nick B Shannon, Hannah Carter, Li Ding, Chris Sander, Josh M Stuart, Lincoln D Stein, Nuria Lopez-Bigas.   

Abstract

The International Cancer Genome Consortium (ICGC) aims to catalog genomic abnormalities in tumors from 50 different cancer types. Genome sequencing reveals hundreds to thousands of somatic mutations in each tumor but only a minority of these drive tumor progression. We present the result of discussions within the ICGC on how to address the challenge of identifying mutations that contribute to oncogenesis, tumor maintenance or response to therapy, and recommend computational techniques to annotate somatic variants and predict their impact on cancer phenotype.

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Mesh:

Year:  2013        PMID: 23900255      PMCID: PMC3919555          DOI: 10.1038/nmeth.2562

Source DB:  PubMed          Journal:  Nat Methods        ISSN: 1548-7091            Impact factor:   28.547


  67 in total

1.  LS-SNP/PDB: annotated non-synonymous SNPs mapped to Protein Data Bank structures.

Authors:  Michael Ryan; Mark Diekhans; Stephanie Lien; Yun Liu; Rachel Karchin
Journal:  Bioinformatics       Date:  2009-04-15       Impact factor: 6.937

2.  An effective model for natural selection in promoters.

Authors:  Michael M Hoffman; Ewan Birney
Journal:  Genome Res       Date:  2010-03-01       Impact factor: 9.043

3.  Performance of mutation pathogenicity prediction methods on missense variants.

Authors:  Janita Thusberg; Ayodeji Olatubosun; Mauno Vihinen
Journal:  Hum Mutat       Date:  2011-02-22       Impact factor: 4.878

4.  Correlation of somatic mutation and expression identifies genes important in human glioblastoma progression and survival.

Authors:  David L Masica; Rachel Karchin
Journal:  Cancer Res       Date:  2011-05-09       Impact factor: 12.701

5.  A comprehensive catalogue of somatic mutations from a human cancer genome.

Authors:  Erin D Pleasance; R Keira Cheetham; Philip J Stephens; David J McBride; Sean J Humphray; Chris D Greenman; Ignacio Varela; Meng-Lay Lin; Gonzalo R Ordóñez; Graham R Bignell; Kai Ye; Julie Alipaz; Markus J Bauer; David Beare; Adam Butler; Richard J Carter; Lina Chen; Anthony J Cox; Sarah Edkins; Paula I Kokko-Gonzales; Niall A Gormley; Russell J Grocock; Christian D Haudenschild; Matthew M Hims; Terena James; Mingming Jia; Zoya Kingsbury; Catherine Leroy; John Marshall; Andrew Menzies; Laura J Mudie; Zemin Ning; Tom Royce; Ole B Schulz-Trieglaff; Anastassia Spiridou; Lucy A Stebbings; Lukasz Szajkowski; Jon Teague; David Williamson; Lynda Chin; Mark T Ross; Peter J Campbell; David R Bentley; P Andrew Futreal; Michael R Stratton
Journal:  Nature       Date:  2009-12-16       Impact factor: 49.962

6.  Human mutation rate associated with DNA replication timing.

Authors:  John A Stamatoyannopoulos; Ivan Adzhubei; Robert E Thurman; Gregory V Kryukov; Sergei M Mirkin; Shamil R Sunyaev
Journal:  Nat Genet       Date:  2009-03-15       Impact factor: 38.330

Review 7.  The cancer genome.

Authors:  Michael R Stratton; Peter J Campbell; P Andrew Futreal
Journal:  Nature       Date:  2009-04-09       Impact factor: 49.962

8.  Identifying Mendelian disease genes with the variant effect scoring tool.

Authors:  Hannah Carter; Christopher Douville; Peter D Stenson; David N Cooper; Rachel Karchin
Journal:  BMC Genomics       Date:  2013-05-28       Impact factor: 3.969

9.  Functional impact bias reveals cancer drivers.

Authors:  Abel Gonzalez-Perez; Nuria Lopez-Bigas
Journal:  Nucleic Acids Res       Date:  2012-08-16       Impact factor: 16.971

10.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117

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  81 in total

1.  Comparison of algorithms for the detection of cancer drivers at subgene resolution.

Authors:  Eduard Porta-Pardo; Atanas Kamburov; David Tamborero; Tirso Pons; Daniela Grases; Alfonso Valencia; Nuria Lopez-Bigas; Gad Getz; Adam Godzik
Journal:  Nat Methods       Date:  2017-07-17       Impact factor: 28.547

2.  Cancer genomes: discerning drivers from passengers.

Authors:  Vivien Marx
Journal:  Nat Methods       Date:  2014-03-28       Impact factor: 28.547

Review 3.  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

4.  Impacts of somatic mutations on gene expression: an association perspective.

Authors:  Peilin Jia; Zhongming Zhao
Journal:  Brief Bioinform       Date:  2017-05-01       Impact factor: 11.622

5.  Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Authors:  Luciano G Martelotto; Charlotte Ky Ng; Maria R De Filippo; Yan Zhang; Salvatore Piscuoglio; Raymond S Lim; Ronglai Shen; Larry Norton; Jorge S Reis-Filho; Britta Weigelt
Journal:  Genome Biol       Date:  2014-10-28       Impact factor: 13.583

6.  MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis.

Authors:  Peilin Jia; Quan Wang; Qingxia Chen; Katherine E Hutchinson; William Pao; Zhongming Zhao
Journal:  Genome Biol       Date:  2014       Impact factor: 13.583

7.  MICADo - Looking for Mutations in Targeted PacBio Cancer Data: An Alignment-Free Method.

Authors:  Justine Rudewicz; Hayssam Soueidan; Raluca Uricaru; Hervé Bonnefoi; Richard Iggo; Jonas Bergh; Macha Nikolski
Journal:  Front Genet       Date:  2016-12-08       Impact factor: 4.599

Review 8.  The role of replicates for error mitigation in next-generation sequencing.

Authors:  Kimberly Robasky; Nathan E Lewis; George M Church
Journal:  Nat Rev Genet       Date:  2013-12-10       Impact factor: 53.242

Review 9.  Bioinformatic approaches to augment study of epithelial-to-mesenchymal transition in lung cancer.

Authors:  Tim N Beck; Adaeze J Chikwem; Nehal R Solanki; Erica A Golemis
Journal:  Physiol Genomics       Date:  2014-08-05       Impact factor: 3.107

Review 10.  Somatic gene copy number alterations in colorectal cancer: new quest for cancer drivers and biomarkers.

Authors:  H Wang; L Liang; J-Y Fang; J Xu
Journal:  Oncogene       Date:  2015-08-10       Impact factor: 9.867

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