Literature DB >> 21367872

Human variation database: an open-source database template for genomic discovery.

Anthony P Fejes1, Alireza Hadj Khodabakhshi, Inanc Birol, Steven J M Jones.   

Abstract

MOTIVATION: Current public variation databases are based upon collaboratively pooling data into a single database with a single interface available to the public. This gives little control to the collaborator to mine the database and requires that they freely share their data with the owners of the repository. We aim to provide an alternative mechanism: providing the source code and application programming interface (API) of a database, enabling researchers to set up local versions without investing heavily in the development of the resource and allowing for confidential information to remain secure.
RESULTS: We describe an open-source database that can be installed easily at any research facility for the storage and analysis of thousands of next-generation sequencing variations. This database is built using PostgreSQL 8.4 (The PostgreSQL Global Development Group. postgres 8.4: http://www.postgresql.org) and provides a novel method for collating and searching across the reported results from thousands of next-generation sequence samples, as well as rapidly accessing vital information on the origin of the samples. The schema of the database makes rapid and insightful queries simple and enables easy annotation of novel or known genetic variations. A modular and cross-platform Java API is provided to perform common functions, such as generation of standard experimental reports and graphical summaries of modifications to genes. Included libraries allow adopters of the database to quickly develop their own queries. AVAILABILITY: The software is available for download through the Vancouver Short Read Analysis Package on Sourceforge, http://vancouvershortr.sourceforge.net. Instructions for use and deployment are provided on the accompanying wiki pages. CONTACT: afejes@bcgsc.ca.

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Year:  2011        PMID: 21367872     DOI: 10.1093/bioinformatics/btr100

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


  7 in total

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2.  Mutations in EZH2 cause Weaver syndrome.

Authors:  William T Gibson; Rebecca L Hood; Shing Hei Zhan; Dennis E Bulman; Anthony P Fejes; Richard Moore; Andrew J Mungall; Patrice Eydoux; Riyana Babul-Hirji; Jianghong An; Marco A Marra; David Chitayat; Kym M Boycott; David D Weaver; Steven J M Jones
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3.  Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma.

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4.  Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.

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5.  Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Authors:  Farah R Zahir; Jill C Mwenifumbo; Hye-Jung E Chun; Emilia L Lim; Clara D M Van Karnebeek; Madeline Couse; Karen L Mungall; Leora Lee; Nancy Makela; Linlea Armstrong; Cornelius F Boerkoel; Sylvie L Langlois; Barbara M McGillivray; Steven J M Jones; Jan M Friedman; Marco A Marra
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6.  A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Authors:  Taylor Novice; Amina Kariminia; Kate L Del Bel; Henry Lu; Mehul Sharma; Chinten J Lim; Jay Read; Mark Vander Lugt; Mark C Hannibal; David O'Dwyer; Mirie Hosler; Thomas Scharnitz; Jason M Rizzo; Jennifer Zacur; John Priatel; Sayeh Abdossamadi; Alexandra Bohm; Anne Junker; Stuart E Turvey; Kirk R Schultz; Jacob Rozmus
Journal:  J Clin Immunol       Date:  2019-12-19       Impact factor: 8.317

7.  Identifying cancer mutation targets across thousands of samples: MuteProc, a high throughput mutation analysis pipeline.

Authors:  Alireza Hadj Khodabakhshi; Anthony P Fejes; Inanc Birol; Steven J M Jones
Journal:  BMC Bioinformatics       Date:  2013-05-28       Impact factor: 3.169

  7 in total

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