Literature DB >> 32309567

Initiative for standardization of the format of the next-generation sequencing (NGS) results.

Veronika Pipan1, Tanja Kunej1.   

Abstract

The number of published reports using next-generation sequencing (NGS) technology in cancer research is increasing. These technologies generate large amounts of data that need to be appropriately presented and available to other researchers for further use. Our goal was to create a comprehensive database with single nucleotide polymorphisms (SNPs) associated with different types of cancer to integrate them to our bioinformatics tools. We reviewed more than 200 scientific papers and extracted relevant information on mutations detected by NGS technology. The current version of the database contains more than 100.000 mutations in more than 70 types of cancer. However, our review of NGS studies revealed great variation in presentation of NGS data in scientific literature with almost no effort for standardization of the data format. NGS results are published in a variety of forms which hinders the gathering of information. Therefore we suggested a uniform format for presenting the NGS data. This will allow faster database development, easier access and data sharing between the laboratories. The database will be a useful tool to many researchers in the field of cancer research and can be a base for a range of studies such as genome-wide association studies, microRNA target binding, and development of cancer biomarkers research.
Copyright © 2015, Applied Systems.

Entities:  

Keywords:  Cancer; database; next generation sequencing (NGS); single nucleotide polymorphism (SNP)

Year:  2015        PMID: 32309567      PMCID: PMC6941547          DOI: 10.15190/d.2015.36

Source DB:  PubMed          Journal:  Discoveries (Craiova)        ISSN: 2359-7232


  10 in total

1.  Genome-wide in silico screening for microRNA genetic variability in livestock species.

Authors:  D Jevsinek Skok; I Godnic; M Zorc; S Horvat; P Dovc; M Kovac; T Kunej
Journal:  Anim Genet       Date:  2013-07-19       Impact factor: 3.169

Review 2.  Sequencing technologies - the next generation.

Authors:  Michael L Metzker
Journal:  Nat Rev Genet       Date:  2009-12-08       Impact factor: 53.242

Review 3.  Application of second-generation sequencing to cancer genomics.

Authors:  Keith Robison
Journal:  Brief Bioinform       Date:  2010-04-28       Impact factor: 11.622

Review 4.  Analysis of next-generation genomic data in cancer: accomplishments and challenges.

Authors:  Li Ding; Michael C Wendl; Daniel C Koboldt; Elaine R Mardis
Journal:  Hum Mol Genet       Date:  2010-09-15       Impact factor: 6.150

5.  NGS catalog: A database of next generation sequencing studies in humans.

Authors:  Junfeng Xia; Qingguo Wang; Peilin Jia; Bing Wang; William Pao; Zhongming Zhao
Journal:  Hum Mutat       Date:  2012-04-19       Impact factor: 4.878

Review 6.  Challenges of sequencing human genomes.

Authors:  Daniel C Koboldt; Li Ding; Elaine R Mardis; Richard K Wilson
Journal:  Brief Bioinform       Date:  2010-06-02       Impact factor: 11.622

7.  Whole genome sequencing of matched primary and metastatic acral melanomas.

Authors:  Samra Turajlic; Simon J Furney; Maryou B Lambros; Costas Mitsopoulos; Iwanka Kozarewa; Felipe C Geyer; Alan Mackay; Jarle Hakas; Marketa Zvelebil; Christopher J Lord; Alan Ashworth; Meirion Thomas; Gordon Stamp; James Larkin; Jorge S Reis-Filho; Richard Marais
Journal:  Genome Res       Date:  2011-12-19       Impact factor: 9.043

Review 8.  Unlocking Mendelian disease using exome sequencing.

Authors:  Christian Gilissen; Alexander Hoischen; Han G Brunner; Joris A Veltman
Journal:  Genome Biol       Date:  2011-09-14       Impact factor: 13.583

9.  Melanoma genome sequencing reveals frequent PREX2 mutations.

Authors:  Michael F Berger; Eran Hodis; Timothy P Heffernan; Yonathan Lissanu Deribe; Michael S Lawrence; Alexei Protopopov; Elena Ivanova; Ian R Watson; Elizabeth Nickerson; Papia Ghosh; Hailei Zhang; Rhamy Zeid; Xiaojia Ren; Kristian Cibulskis; Andrey Y Sivachenko; Nikhil Wagle; Antje Sucker; Carrie Sougnez; Robert Onofrio; Lauren Ambrogio; Daniel Auclair; Timothy Fennell; Scott L Carter; Yotam Drier; Petar Stojanov; Meredith A Singer; Douglas Voet; Rui Jing; Gordon Saksena; Jordi Barretina; Alex H Ramos; Trevor J Pugh; Nicolas Stransky; Melissa Parkin; Wendy Winckler; Scott Mahan; Kristin Ardlie; Jennifer Baldwin; Jennifer Wargo; Dirk Schadendorf; Matthew Meyerson; Stacey B Gabriel; Todd R Golub; Stephan N Wagner; Eric S Lander; Gad Getz; Lynda Chin; Levi A Garraway
Journal:  Nature       Date:  2012-05-09       Impact factor: 49.962

10.  The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website.

Authors:  S Bamford; E Dawson; S Forbes; J Clements; R Pettett; A Dogan; A Flanagan; J Teague; P A Futreal; M R Stratton; R Wooster
Journal:  Br J Cancer       Date:  2004-07-19       Impact factor: 7.640

  10 in total

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