Literature DB >> 34816127

Identifying tumorigenic non-coding mutations through altered cis-regulation.

Zhongshan Cheng1, Michael Vermeulen1, Micheal Rollins-Green1, Tomas Babak1, Brian DeVeale2.   

Abstract

Identification of non-coding mutations driving tumorigenesis requires alternative approaches to coding mutations. Enriched associations between mutated regulatory elements and altered cis-regulation in tumors are a promising approach to stratify candidate non-coding driver mutations. Here we provide a bioinformatics pipeline to mine data from the Cancer Genomic Commons (GDC) for such associations. The pipeline integrates RNA and whole-genome sequencing with genotyping data to reveal putative non-coding driver mutations by cancer type. For complete information on the generation and use of this protocol, please refer to Cheng et al. (2021).
© 2021 The Author(s).

Entities:  

Keywords:  Bioinformatics; Cancer; Genomics; RNAseq; Sequence analysis

Mesh:

Year:  2021        PMID: 34816127      PMCID: PMC8591365          DOI: 10.1016/j.xpro.2021.100934

Source DB:  PubMed          Journal:  STAR Protoc        ISSN: 2666-1667


  12 in total

1.  The human genome browser at UCSC.

Authors:  W James Kent; Charles W Sugnet; Terrence S Furey; Krishna M Roskin; Tom H Pringle; Alan M Zahler; David Haussler
Journal:  Genome Res       Date:  2002-06       Impact factor: 9.043

Review 2.  Genotype imputation for genome-wide association studies.

Authors:  Jonathan Marchini; Bryan Howie
Journal:  Nat Rev Genet       Date:  2010-07       Impact factor: 53.242

3.  VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.

Authors:  Daniel C Koboldt; Qunyuan Zhang; David E Larson; Dong Shen; Michael D McLellan; Ling Lin; Christopher A Miller; Elaine R Mardis; Li Ding; Richard K Wilson
Journal:  Genome Res       Date:  2012-02-02       Impact factor: 9.043

4.  CrossMap: a versatile tool for coordinate conversion between genome assemblies.

Authors:  Hao Zhao; Zhifu Sun; Jing Wang; Haojie Huang; Jean-Pierre Kocher; Liguo Wang
Journal:  Bioinformatics       Date:  2013-12-18       Impact factor: 6.937

5.  Improved whole-chromosome phasing for disease and population genetic studies.

Authors:  Olivier Delaneau; Jean-Francois Zagury; Jonathan Marchini
Journal:  Nat Methods       Date:  2013-01       Impact factor: 28.547

6.  VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophrenia.

Authors:  Emma Reble; Christina A Castellani; Melkaye G Melka; Richard O'Reilly; Shiva M Singh
Journal:  Psychiatr Genet       Date:  2017-04       Impact factor: 2.458

7.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

8.  Before and After: Comparison of Legacy and Harmonized TCGA Genomic Data Commons' Data.

Authors:  Galen F Gao; Joel S Parker; Sheila M Reynolds; Tiago C Silva; Liang-Bo Wang; Wanding Zhou; Rehan Akbani; Matthew Bailey; Saianand Balu; Benjamin P Berman; Denise Brooks; Hu Chen; Andrew D Cherniack; John A Demchok; Li Ding; Ina Felau; Sharon Gaheen; Daniela S Gerhard; David I Heiman; Kyle M Hernandez; Katherine A Hoadley; Reyka Jayasinghe; Anab Kemal; Theo A Knijnenburg; Peter W Laird; Michael K A Mensah; Andrew J Mungall; A Gordon Robertson; Hui Shen; Roy Tarnuzzer; Zhining Wang; Matthew Wyczalkowski; Liming Yang; Jean C Zenklusen; Zhenyu Zhang; Han Liang; Michael S Noble
Journal:  Cell Syst       Date:  2019-07-24       Impact factor: 11.091

9.  Second-generation PLINK: rising to the challenge of larger and richer datasets.

Authors:  Christopher C Chang; Carson C Chow; Laurent Cam Tellier; Shashaank Vattikuti; Shaun M Purcell; James J Lee
Journal:  Gigascience       Date:  2015-02-25       Impact factor: 6.524

10.  Cis-regulatory mutations with driver hallmarks in major cancers.

Authors:  Zhongshan Cheng; Michael Vermeulen; Micheal Rollins-Green; Brian DeVeale; Tomas Babak
Journal:  iScience       Date:  2021-02-04
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