Genome Modeling System: A Knowledge Management Platform for Genomics
Publication Date
July 09, 2015
Journal
PLOS Computational Biology
Authors
Malachi Griffith, Obi L. Griffith, Scott M. Smith, Avinash Ramu, et al
Volume
11
Issue
7
Pages
e1004274
DOI
https://dx.plos.org/10.1371/journal.pcbi.1004274
Publisher URL
http://journals.plos.org/ploscompbiol/article?id=10.1371%2Fjournal.pcbi.1004274
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/26158448
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497734
Europe PMC
http://europepmc.org/abstract/MED/26158448
Web of Science
000360620100010
Scopus
84938630124
Mendeley
http://www.mendeley.com/research/genome-modeling-system-knowledge-management-platform-genomics-9
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Mendeley | Further Information

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"scopus_author_id"=>"23392734000"}, {"first_name"=>"Todd N.", "last_name"=>"Wylie", "scopus_author_id"=>"6603776479"}, {"first_name"=>"Shawn M.", "last_name"=>"Leonard", "scopus_author_id"=>"7102579873"}, {"first_name"=>"William E.", "last_name"=>"Schroeder", "scopus_author_id"=>"56763521000"}, {"first_name"=>"Xiaoqi", "last_name"=>"Shi", "scopus_author_id"=>"57201438145"}, {"first_name"=>"Lynn K.", "last_name"=>"Carmichael", "scopus_author_id"=>"23391738500"}, {"first_name"=>"Matthew R.", "last_name"=>"Weil", "scopus_author_id"=>"56763486300"}, {"first_name"=>"Richard W.", "last_name"=>"Wohlstadter", "scopus_author_id"=>"56764624700"}, {"first_name"=>"Gary", "last_name"=>"Stiehr", "scopus_author_id"=>"6504046919"}, {"first_name"=>"Michael D.", "last_name"=>"McLellan", "scopus_author_id"=>"8727005300"}, {"first_name"=>"Craig S.", "last_name"=>"Pohl", "scopus_author_id"=>"7102763563"}, {"first_name"=>"Christopher A.", "last_name"=>"Miller", "scopus_author_id"=>"35586118800"}, {"first_name"=>"Daniel C.", "last_name"=>"Koboldt", "scopus_author_id"=>"8529006800"}, {"first_name"=>"Jason R.", "last_name"=>"Walker", "scopus_author_id"=>"8295519900"}, {"first_name"=>"James M.", "last_name"=>"Eldred", "scopus_author_id"=>"6602181124"}, {"first_name"=>"David E.", "last_name"=>"Larson", "scopus_author_id"=>"35376525600"}, {"first_name"=>"David J.", "last_name"=>"Dooling", "scopus_author_id"=>"36896721700"}, {"first_name"=>"Li", "last_name"=>"Ding", "scopus_author_id"=>"36570198600"}, {"first_name"=>"Elaine R.", "last_name"=>"Mardis", "scopus_author_id"=>"56070440800"}, {"first_name"=>"Richard K.", "last_name"=>"Wilson", "scopus_author_id"=>"56713341900"}], "year"=>2015, "source"=>"PLoS Computational Biology", "identifiers"=>{"sgr"=>"84938630124", "doi"=>"10.1371/journal.pcbi.1004274", "pui"=>"605505673", "pmid"=>"26158448", "scopus"=>"2-s2.0-84938630124", "issn"=>"15537358", "isbn"=>"15537358 (Electronic)", "arxiv"=>"arXiv:1401.5130v2"}, "id"=>"94f4816d-9b98-3cfa-a814-52559087c05a", "abstract"=>"In this work, we present the Genome Modeling System (GMS), an analysis information management system capable of executing automated genome analysis pipelines at a massive scale. The GMS framework provides detailed tracking of samples and data coupled with reliable and repeatable analysis pipelines. The GMS also serves as a platform for bioinformatics development, allowing a large team to collaborate on data analysis, or an individual researcher to leverage the work of others effectively within its data management system. Rather than separating ad-hoc analysis from rigorous, reproducible pipelines, the GMS promotes systematic integration between the two. As a demonstration of the GMS, we performed an integrated analysis of whole genome, exome and transcriptome sequencing data from a breast cancer cell line (HCC1395) and matched lymphoblastoid line (HCC1395BL). These data are available for users to test the software, complete tutorials and develop novel GMS pipeline configurations. 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Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/2169299"], "description"=>"<p>The genome modeling system is architected around the idea of a ‘genome model’. The following vignettes illustrate key concepts integral to these models: (<b>A</b>) A subject can be modeled multiple times, possibly each with distinct ‘processing profiles’. For example, two different models can be defined for the HCC1395 genome using the ‘reference alignment’ pipeline. In Model 1, the processing profile specifies the use of BWA for alignment and Samtools for variant detection. In Model 2, Bowtie2 and GATK are used for these steps instead. (<b>B</b>) A given processing profile can be used across a group of models, ensuring, for instance, that all subjects in a cohort are processed in similar ways. In this example, two different cell line genomes (HCC1395 and XY2123) have models defined of the exact same type, using the processing profile with BWA/Samtools specified. (<b>C</b>) A model has no results until a build is generated. If the model is updated to have new inputs, a new build is required. Builds are immutable snapshots of modeling pipeline results. In this example, the HCC1395 genome has a reference alignment model again making use of the BWA/Samtools profile. However, as new instrument data becomes available, new builds are constructed to reflect the most complete data. (<b>D</b>) When models are used as inputs for other models, the last complete build for the input model is used as an input for the downstream build. In this example, both tumor and normal genomes are available for an individual (in this case HCC1395). Reference alignment models are built for each sample and then both are used as inputs for a third ‘somatic variation’ model. In reality, it is the underlying data in the reference alignment builds that are used to create a somatic variation build, identifying all variants that are thought to be tumor specific.</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478413, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.g002", "stats"=>{"downloads"=>1, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Key_concepts_of_the_GMS_/1478413", "title"=>"Key concepts of the GMS.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-09 03:12:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/2169314"], "description"=>"<p>A brief summary of data processed by use of the GMS at The Genome Institute of Washington University School of Medicine in St. Louis (as of October 2014).</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478427, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.t002", "stats"=>{"downloads"=>3, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Data_processed_by_the_GMS_/1478427", "title"=>"Data processed by the GMS.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-07-09 03:12:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/2169296"], "description"=>"<p>The genome modeling system (GMS) is implemented to use a federated disk SAN, with meta-data stored in a PostgreSQL relational database. Sample management tools allow the import of new samples and instrument data. Data are then processed through various analysis pipelines (e.g., reference alignment, somatic variation detection, etc.) that in turn are managed and monitored by a workflow system (<a href=\"http://www.ploscompbiol.org/article/info:doi/10.1371/journal.pcbi.1004274#box001\" target=\"_blank\">Box 1</a>). Stand-alone GMS tools, not part of automated pipelines, are available through a common tool tree. Most components of the system can be accessed through an Ubuntu Linux command-line interface or Ruby-on-Rails web interface.</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478409, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.g001", "stats"=>{"downloads"=>4, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Overview_of_the_GMS_/1478409", "title"=>"Overview of the GMS.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-09 03:12:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/2169313"], "description"=>"<p>A brief description of each analysis pipeline tested for initial release of the GMS.</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478426, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.t001", "stats"=>{"downloads"=>2, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Major_GMS_pipelines_/1478426", "title"=>"Major GMS pipelines.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-07-09 03:12:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/2169301"], "description"=>"<p>To illustrate key GMS concepts, the processing profiles and workflow for the somatic variation pipeline are shown. Abbreviations: copy number variant (CNV), copy number amplification (CNA), genome analysis tool kit (GATK), insertion/deletion (Indel), loss of heterozygosity (LOH), mapping quality (MQ), single nucleotide variant (SNV), structural variant (SV), variant allele frequency (VAF).</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478415, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.g003", "stats"=>{"downloads"=>3, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Somatic_variation_processing_profile_and_workflow_/1478415", "title"=>"Somatic variation processing profile and workflow.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-09 03:12:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/2169368", "https://ndownloader.figshare.com/files/2169369", "https://ndownloader.figshare.com/files/2169370", "https://ndownloader.figshare.com/files/2169371", "https://ndownloader.figshare.com/files/2169373", "https://ndownloader.figshare.com/files/2169374", "https://ndownloader.figshare.com/files/2169375", "https://ndownloader.figshare.com/files/2169376", "https://ndownloader.figshare.com/files/2169377", "https://ndownloader.figshare.com/files/2169378", "https://ndownloader.figshare.com/files/2169379", "https://ndownloader.figshare.com/files/2169380", "https://ndownloader.figshare.com/files/2169381", "https://ndownloader.figshare.com/files/2169382", "https://ndownloader.figshare.com/files/2169383", "https://ndownloader.figshare.com/files/2169384", "https://ndownloader.figshare.com/files/2169385", "https://ndownloader.figshare.com/files/2169386", "https://ndownloader.figshare.com/files/2169387", "https://ndownloader.figshare.com/files/2169388", "https://ndownloader.figshare.com/files/2169389", "https://ndownloader.figshare.com/files/2169390", "https://ndownloader.figshare.com/files/2169392", "https://ndownloader.figshare.com/files/2169393", "https://ndownloader.figshare.com/files/2169394", "https://ndownloader.figshare.com/files/2169395", "https://ndownloader.figshare.com/files/2169397", "https://ndownloader.figshare.com/files/2169398", "https://ndownloader.figshare.com/files/2169399"], "description"=>"<div><p>In this work, we present the Genome Modeling System (GMS), an analysis information management system capable of executing automated genome analysis pipelines at a massive scale. The GMS framework provides detailed tracking of samples and data coupled with reliable and repeatable analysis pipelines. The GMS also serves as a platform for bioinformatics development, allowing a large team to collaborate on data analysis, or an individual researcher to leverage the work of others effectively within its data management system. Rather than separating ad-hoc analysis from rigorous, reproducible pipelines, the GMS promotes systematic integration between the two. As a demonstration of the GMS, we performed an integrated analysis of whole genome, exome and transcriptome sequencing data from a breast cancer cell line (HCC1395) and matched lymphoblastoid line (HCC1395BL). These data are available for users to test the software, complete tutorials and develop novel GMS pipeline configurations. The GMS is available at <a href=\"https://github.com/genome/gms\" target=\"_blank\">https://github.com/genome/gms</a>.</p></div>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478461, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. 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  • {"files"=>["https://ndownloader.figshare.com/files/2169315"], "description"=>"<p>Brief descriptions of critical objects in the Genome Modeling System.</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478428, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.t003", "stats"=>{"downloads"=>4, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Terminology_for_the_Genome_Modeling_System_/1478428", "title"=>"Terminology for the Genome Modeling System.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-07-09 03:12:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/2169312"], "description"=>"<p>Circos is a popular tool for summarizing genomic events in a tumor genome. This is just one of many automatically generated visualizations made possible by the GMS. In this example, the WGS, exome and RNA-seq data for HCC1395 are displayed in several tracks along with additional visualizations illustrating individual events. Moving inwards, SNVs and Indels are plotted on the outermost track, then highly expressed genes, CNVs, and finally chromosomal translocations at the center. For events predicted to affect protein coding genes, additional plots are auto-generated to display the mutation position relative to protein domains and previously reported mutations from the Cosmic database, as illustrated in the topmost plot. Moving clockwise, a screenshot of IGV demonstrates one of the somatic deletions identified. IGV XML sessions are automatically generated to allow rapid manual review of all predicted events. Next, a histogram illustrates the expression of a single highly expressed gene relative to the distribution of expression for all genes. Then, a CNV plot is shown for an amplified portion of one chromosome. Finally, the coverage and supporting reads for a chromosomal translocation are depicted.</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478425, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.g005", "stats"=>{"downloads"=>0, "page_views"=>31, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Circos_plot_of_HCC1395_tumor_normal_comparison_/1478425", "title"=>"Circos plot of HCC1395 tumor/normal comparison.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-09 03:12:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/2169306"], "description"=>"<p>A test dataset for the HCC1395 cell line is provided with the GMS software to allow testing of software installation, and facilitate further development. It is also used to illustrate much of the current functionality of the GMS. HCC1395 tumor and the corresponding HCC1395BL ‘normal’ cell line DNA and RNA samples were sequenced by whole genome, exome, and RNA-seq methods producing six sets of instrument data for input to various GMS pipelines. Additional required inputs for the pipelines include a reference genome (e.g., GRCh37), gene annotations (e.g., Ensembl 67_37l), and variant databases (e.g., dbSNP37). Different versions (processing profiles) of the reference alignment were used to align WGS and exome DNA reads to the reference genome. A separate RNA-seq pipeline similarly aligns RNA reads. Alternate versions of the somatic variation pipeline are used to call various types of variants from exome and WGS data by comparing tumor and normal reference alignments. A differential expression pipeline identifies significantly altered transcript expression levels by comparing the tumor and normal RNA-seq alignments. Finally, the MedSeq pipeline summarizes all upstream pipelines into a single convenient result set. This includes a multitude of reports and visualizations for single nucleotide variants (SNVs), Indels (insertions and deletions), SVs (structural variants), CNVs (copy number variations), transcript fusions, differentially expressed genes, alternatively expressed isoforms, and much more. Data types are further integrated to, for example, identify which variants at the DNA level are expressed at the RNA level and which events affect known cancer driver genes or druggable targets.</p>", "links"=>[], "tags"=>["bioinformatics development", "novel GMS pipeline configurations", "data management system", "transcriptome sequencing data", "genome analysis pipelines", "breast cancer cell line", "Knowledge Management Platform", "data analysis", "repeatable analysis pipelines", "GMS framework", "Genome Modeling System", "HCC 1395BL", "lymphoblastoid line", "analysis information management system"], "article_id"=>1478419, "categories"=>["Biological Sciences"], "users"=>["Malachi Griffith", "Obi L. Griffith", "Scott M. Smith", "Avinash Ramu", "Matthew B. Callaway", "Anthony M. Brummett", "Michael J. Kiwala", "Adam C. Coffman", "Allison A. Regier", "Ben J. Oberkfell", "Gabriel E. Sanderson", "Thomas P. Mooney", "Nathaniel G. Nutter", "Edward A. Belter", "Feiyu Du", "Robert L. Long", "Travis E. Abbott", "Ian T. Ferguson", "David L. Morton", "Mark M. Burnett", "James V. Weible", "Joshua B. Peck", "Adam Dukes", "Joshua F. McMichael", "Justin T. Lolofie", "Brian R. Derickson", "Jasreet Hundal", "Zachary L. Skidmore", "Benjamin J. Ainscough", "Nathan D. Dees", "William S. Schierding", "Cyriac Kandoth", "Kyung H. Kim", "Charles Lu", "Christopher C. Harris", "Nicole Maher", "Christopher A. Maher", "Vincent J. Magrini", "Benjamin S. Abbott", "Ken Chen", "Eric Clark", "Indraniel Das", "Xian Fan", "Amy E. Hawkins", "Todd G. Hepler", "Todd N. Wylie", "Shawn M. Leonard", "William E. Schroeder", "Xiaoqi Shi", "Lynn K. Carmichael", "Matthew R. Weil", "Richard W. Wohlstadter", "Gary Stiehr", "Michael D. McLellan", "Craig S. Pohl", "Christopher A. Miller", "Daniel C. Koboldt", "Jason R. Walker", "James M. Eldred", "David E. Larson", "David J. Dooling", "Li Ding", "Elaine R. Mardis", "Richard K. Wilson"], "doi"=>"https://dx.doi.org/10.1371/journal.pcbi.1004274.g004", "stats"=>{"downloads"=>0, "page_views"=>21, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_HCC1395_8220_TST1_8221_example_input_models_and_outputs_/1478419", "title"=>"HCC1395 (“TST1”) example input, models, and outputs.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-07-09 03:12:00"}

PMC Usage Stats | Further Information

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Relative Metric

{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}
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