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BMC Bioinformatics

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Results and data

This section incorporates novel results, useful tools, and methods using bioinformatics in new ways, including but not limited to: biological conclusions that are only supported by bioinformatics analyses.

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  1. Content type: Methodology Article

    qPCR has established itself as the technique of choice for the quantification of gene expression. Procedures for conducting qPCR have received significant attention; however, more rigorous approaches to the st...

    Authors: Michael T. Ganger, Geoffrey D. Dietz and Sarah J. Ewing

    Citation: BMC Bioinformatics 2017 18:534

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  2. Content type: Database

    Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. The...

    Authors: Shuyun Zhang, Libin Deng, Qiyue Jia, Shaoting Huang, Junwang Gu, Fankun Zhou, Meng Gao, Xinyi Sun, Chang Feng and Guangqin Fan

    Citation: BMC Bioinformatics 2017 18:494

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  3. Content type: Methodology Article

    The advent of array-based genome-wide DNA methylation methods has enabled quantitative measurement of single CpG methylation status at relatively low cost and sample input. Whereas the use of Infinium Human Me...

    Authors: Maria Needhamsen, Ewoud Ewing, Harald Lund, David Gomez-Cabrero, Robert Adam Harris, Lara Kular and Maja Jagodic

    Citation: BMC Bioinformatics 2017 18:486

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  4. Content type: Software

    Threshold regression models are a diverse set of non-regular regression models that all depend on change points or thresholds. They provide a simple but elegant and interpretable way to model certain kinds of ...

    Authors: Youyi Fong, Ying Huang, Peter B. Gilbert and Sallie R. Permar

    Citation: BMC Bioinformatics 2017 18:454

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  5. Content type: Database

    Recent advances in omics technology have produced a large amount of liver-related data. A comprehensive and up-to-date source of liver-related data is needed to allow biologists to access the latest data. Howe...

    Authors: Tao Chen, Mansheng Li, Qiang He, Lei Zou, Youhuan Li, Cheng Chang, Dongyan Zhao and Yunping Zhu

    Citation: BMC Bioinformatics 2017 18:452

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  6. Content type: Research Article

    Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single nucleotide variants as pathogenic mutations. As the majority of ...

    Authors: Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt and Colin Campbell

    Citation: BMC Bioinformatics 2017 18:442

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  7. Content type: Database

    Genome-wide microarray has enabled development of robust databases for functional genomics studies in rice. However, such databases do not directly cater to the needs of breeders. Here, we have attempted to de...

    Authors: Maninder Sandhu, V. Sureshkumar, Chandra Prakash, Rekha Dixit, Amolkumar U. Solanke, Tilak Raj Sharma, Trilochan Mohapatra and Amitha Mithra S. V.

    Citation: BMC Bioinformatics 2017 18:432

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  8. Content type: Software

    Genome-wide association studies allow us to understand the genetics of complex diseases. Human metabolism provides information about the disease-causing mechanisms, so it is usual to investigate the associatio...

    Authors: Sophie Molnos, Clemens Baumbach, Simone Wahl, Martina Müller-Nurasyid, Konstantin Strauch, Rui Wang-Sattler, Melanie Waldenberger, Thomas Meitinger, Jerzy Adamski, Gabi Kastenmüller, Karsten Suhre, Annette Peters, Harald Grallert, Fabian J. Theis and Christian Gieger

    Citation: BMC Bioinformatics 2017 18:429

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  9. Content type: Methodology Article

    The ability to efficiently search and filter datasets depends on access to high quality metadata. While most biomedical repositories require data submitters to provide a minimal set of metadata, some such as t...

    Authors: Wei Hu, Amrapali Zaveri, Honglei Qiu and Michel Dumontier

    Citation: BMC Bioinformatics 2017 18:415

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  10. Content type: Software

    Although the sequencing landscape is rapidly evolving and sequencing costs are continuously decreasing, whole genome sequencing is still too expensive for use on a routine basis. Targeted resequencing of only ...

    Authors: Steve Lefever, Filip Pattyn, Bram De Wilde, Frauke Coppieters, Sarah De Keulenaer, Jan Hellemans and Jo Vandesompele

    Citation: BMC Bioinformatics 2017 18:400

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  11. Content type: Methodology Article

    Probabilistic assessments of clinical care are essential for quality care. Yet, machine learning, which supports this care process has been limited to categorical results. To maximize its usefulness, it is imp...

    Authors: Brian Connolly, K. Bretonnel Cohen, Daniel Santel, Ulya Bayram and John Pestian

    Citation: BMC Bioinformatics 2017 18:361

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  12. Content type: Research Article

    Computational bioinformatics workflows are extensively used to analyse genomics data, with different approaches available to support implementation and execution of these workflows. Reproducibility is one of the ...

    Authors: Sehrish Kanwal, Farah Zaib Khan, Andrew Lonie and Richard O. Sinnott

    Citation: BMC Bioinformatics 2017 18:337

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  13. Content type: Software

    Systems Biology Markup Language (SBML) is the standard model representation and description language in systems biology. Enriching and analysing systems biology models by integrating the multitude of available...

    Authors: Sascha Schäuble, Anne-Kristin Stavrum, Mathias Bockwoldt, Pål Puntervoll and Ines Heiland

    Citation: BMC Bioinformatics 2017 18:314

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  14. Content type: Correspondence

    Bioinformatics has multitudinous identities, organisational alignments and disciplinary links. This variety allows bioinformaticians and bioinformatic work to contribute to much (if not most) of life science r...

    Authors: Andrew Bartlett, Bart Penders and Jamie Lewis

    Citation: BMC Bioinformatics 2017 18:311

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  15. Content type: Research Article

    Survival analysis is an important element of reasoning from data. Applied in a number of fields, it has become particularly useful in medicine to estimate the survival rate of patients on the basis of their co...

    Authors: Łukasz Wróbel, Adam Gudyś and Marek Sikora

    Citation: BMC Bioinformatics 2017 18:285

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  16. Content type: Research Article

    Copy number variation (CNV) is known to play an important role in the genetics of complex diseases and several methods have been proposed to detect association of CNV with phenotypes of interest. Statistical m...

    Authors: Meiling Liu, Sanghoon Moon, Longfei Wang, Sulgi Kim, Yeon-Jung Kim, Mi Yeong Hwang, Young Jin Kim, Robert C. Elston, Bong-Jo Kim and Sungho Won

    Citation: BMC Bioinformatics 2017 18:217

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2016 Journal Metrics

  • Citation Impact
    2.448 - 2-year Impact Factor
    3.450 - 5-year Impact Factor
    0.946 - Source Normalized Impact per Paper (SNIP)
    1.467 - SCImago Journal Rank (SJR)

    Usage 
    3784657 downloads
    1405 Usage Factor


    Social Media Impact
    816 mentions

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