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  1. Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma and accounts for cancer-related deaths. Survival rates are very low when the tumor is discovered in the late-stage. Th...

    Authors: Fangjun Li, Mu Yang, Yunhe Li, Mingqiang Zhang, Wenjuan Wang, Dongfeng Yuan and Dongqi Tang
    Citation: BMC Bioinformatics 2020 21:232
  2. During the last decade, there has been a surge towards computational drug repositioning owing to constantly increasing -omics data in the biomedical research field. While numerous existing methods focus on the in...

    Authors: Mohammad Asif Emon, Daniel Domingo-Fernández, Charles Tapley Hoyt and Martin Hofmann-Apitius
    Citation: BMC Bioinformatics 2020 21:231
  3. Inferring diseases related to the patient’s electronic medical records (EMRs) is of great significance for assisting doctor diagnosis. Several recent prediction methods have shown that deep learning-based meth...

    Authors: Tong Wang, Ping Xuan, Zonglin Liu and Tiangang Zhang
    Citation: BMC Bioinformatics 2020 21:230
  4. Mutations arise in the human genome in two major settings: the germline and the soma. These settings involve different inheritance patterns, time scales, chromatin structures, and environmental exposures, all ...

    Authors: William Meyerson, John Leisman, Fabio C. P. Navarro and Mark Gerstein
    Citation: BMC Bioinformatics 2020 21:227
  5. Currently the combination of molecular tools, imaging techniques and analysis software offer the possibility of studying gene activity through the use of fluorescent reporters and infer its distribution within...

    Authors: David R. Espeso, Elena Algar, Esteban Martínez-García and Víctor de Lorenzo
    Citation: BMC Bioinformatics 2020 21:224
  6. The latest works on CRISPR genome editing tools mainly employs deep learning techniques. However, deep learning models lack explainability and they are harder to reproduce. We were motivated to build an accura...

    Authors: Ali Haisam Muhammad Rafid, Md. Toufikuzzaman, Mohammad Saifur Rahman and M. Sohel Rahman
    Citation: BMC Bioinformatics 2020 21:223
  7. The first step in understanding ecological community diversity and dynamics is quantifying community membership. An increasingly common method for doing so is through metagenomics. Because of the rapidly incre...

    Authors: William S. Pearman, Nikki E. Freed and Olin K. Silander
    Citation: BMC Bioinformatics 2020 21:220
  8. Reverse engineering of transcriptional regulatory networks (TRN) from genomics data has always represented a computational challenge in System Biology. The major issue is modeling the complex crosstalk among t...

    Authors: Elisabetta Sauta, Andrea Demartini, Francesca Vitali, Alberto Riva and Riccardo Bellazzi
    Citation: BMC Bioinformatics 2020 21:219
  9. Enzymatic and chemical reactions are key for understanding biological processes in cells. Curated databases of chemical reactions exist but these databases struggle to keep up with the exponential growth of th...

    Authors: Emily K. Mallory, Matthieu de Rochemonteix, Alex Ratner, Ambika Acharya, Chris Re, Roselie A. Bright and Russ B. Altman
    Citation: BMC Bioinformatics 2020 21:217
  10. The number of porcine Single Nucleotide Polymorphisms (SNPs) used in genetic association studies is very large, suitable for statistical testing. However, in breed classification problem, one needs to have a m...

    Authors: Kitsuchart Pasupa, Wanthanee Rathasamuth and Sissades Tongsima
    Citation: BMC Bioinformatics 2020 21:216
  11. Recently, it has become possible to collect next-generation DNA sequencing data sets that are composed of multiple samples from multiple biological units where each of these samples may be from a single cell o...

    Authors: Collin Giguere, Harsh Vardhan Dubey, Vishal Kumar Sarsani, Hachem Saddiki, Shai He and Patrick Flaherty
    Citation: BMC Bioinformatics 2020 21:215
  12. Mounting evidence suggests several diseases and biological processes target transcription termination to misregulate gene expression. Disruption of transcription termination leads to readthrough transcription ...

    Authors: Samuel J. Roth, Sven Heinz and Christopher Benner
    Citation: BMC Bioinformatics 2020 21:214
  13. Semantic resources such as knowledge bases contains high-quality-structured knowledge and therefore require significant effort from domain experts. Using the resources to reinforce the information retrieval fr...

    Authors: Zhijing Li, Yuchen Lian, Xiaoyong Ma, Xiangrong Zhang and Chen Li
    Citation: BMC Bioinformatics 2020 21:213
  14. Apoptosis, also called programmed cell death, refers to the spontaneous and orderly death of cells controlled by genes in order to maintain a stable internal environment. Identifying the subcellular location o...

    Authors: Lei Du, Qingfang Meng, Yuehui Chen and Peng Wu
    Citation: BMC Bioinformatics 2020 21:212
  15. GenBank contains over 3 million viral sequences. The National Center for Biotechnology Information (NCBI) previously made available a tool for validating and annotating influenza virus sequences that is used t...

    Authors: Alejandro A. Schäffer, Eneida L. Hatcher, Linda Yankie, Lara Shonkwiler, J. Rodney Brister, Ilene Karsch-Mizrachi and Eric P. Nawrocki
    Citation: BMC Bioinformatics 2020 21:211
  16. Analysis of secondary structures is essential for understanding the functions of RNAs. Because RNA molecules thermally fluctuate, it is necessary to analyze the probability distributions of their secondary str...

    Authors: Hiroki Takizawa, Junichi Iwakiri and Kiyoshi Asai
    Citation: BMC Bioinformatics 2020 21:210
  17. Landmark-based approaches of two- or three-dimensional coordinates are the most widely used in geometric morphometrics (GM). As human face hosts the organs that act as the central interface for identification,...

    Authors: Azree Nazri, Olalekan Agbolade, Razali Yaakob, Abdul Azim Ghani and Yoke Kqueen Cheah
    Citation: BMC Bioinformatics 2020 21:208
  18. Plastid genomes typically display a circular, quadripartite structure with two inverted repeat regions, which challenges automatic assembly procedures. The correct assembly of plastid genomes is a prerequisite...

    Authors: Michael Gruenstaeudl and Nils Jenke
    Citation: BMC Bioinformatics 2020 21:207
  19. With the explosion in the number of methods designed to analyze bulk and single-cell RNA-seq data, there is a growing need for approaches that assess and compare these methods. The usual technique is to compar...

    Authors: David Gerard
    Citation: BMC Bioinformatics 2020 21:206
  20. Repetitive DNA elements such as direct and inverted repeat sequences are present in every genome, playing numerous biological roles. In amphibians, the functions and effects of the repeat sequences have not be...

    Authors: Noel Cabañas, Arturo Becerra, David Romero, Tzipe Govezensky, Jesús Javier Espinosa-Aguirre and Rafael Camacho-Carranza
    Citation: BMC Bioinformatics 2020 21:197
  21. Compared to the many uses of DNA-level testing in clinical oncology, development of RNA-based diagnostics has been more limited. An exception to this trend is the growing use of mRNA-based methods in early-sta...

    Authors: Hersh D. Ravkin, Ofer Givton, David B. Geffen and Eitan Rubin
    Citation: BMC Bioinformatics 2020 21:196
  22. The aim of gene expression-based clinical modelling in tumorigenesis is not only to accurately predict the clinical endpoints, but also to reveal the genome characteristics for downstream analysis for the purp...

    Authors: Yiru Zhao, Yifan Zhou, Yuan Liu, Yinyi Hao, Menglong Li, Xuemei Pu, Chuan Li and Zhining Wen
    Citation: BMC Bioinformatics 2020 21:195
  23. The necessity to analyze medium-throughput data in epidemiological studies with small sample size, particularly when studying biomedical data may hinder the use of classical statistical methods. Support vector...

    Authors: Hector Sanz, Ferran Reverter and Clarissa Valim
    Citation: BMC Bioinformatics 2020 21:193

    The Correction to this article has been published in BMC Bioinformatics 2020 21:371

  24. Single cell RNA sequencing (scRNAseq) has provided invaluable insights into cellular heterogeneity and functional states in health and disease. During the analysis of scRNAseq data, annotating the biological i...

    Authors: H. Atakan Ekiz, Christopher J. Conley, W. Zac Stephens and Ryan M. O’Connell
    Citation: BMC Bioinformatics 2020 21:191
  25. In the era of information overload, natural language processing (NLP) techniques are increasingly needed to support advanced biomedical information management and discovery applications. In this paper, we pres...

    Authors: Halil Kilicoglu, Graciela Rosemblat, Marcelo Fiszman and Dongwook Shin
    Citation: BMC Bioinformatics 2020 21:188
  26. Cardiotoxicity, characterized by severe cardiac dysfunction, is a major problem in patients treated with different classes of anticancer drugs. Development of predictable human-based models and assays for drug...

    Authors: Lu Cao, Andries D. van der Meer, Fons J. Verbeek and Robert Passier
    Citation: BMC Bioinformatics 2020 21:187
  27. Even though R is one of the most commonly used statistical computing environments, it lacks a graphical user interface (GUI) that appeals to students, researchers, lecturers, and practitioners in medicine and ...

    Authors: Yi Zhou, Siu-wai Leung, Shosuke Mizutani, Tatsuya Takagi and Yu-Shi Tian
    Citation: BMC Bioinformatics 2020 21:183
  28. In addition to causing the pandemic influenza outbreaks of 1918 and 2009, subtype H1N1 influenza A viruses (IAVs) have caused seasonal epidemics since 1977. Antigenic property of influenza viruses are determin...

    Authors: Lei Li, Deborah Chang, Lei Han, Xiaojian Zhang, Joseph Zaia and Xiu-Feng Wan
    Citation: BMC Bioinformatics 2020 21:182
  29. Recently, DNA methylation has drawn great attention due to its strong correlation with abnormal gene activities and informative representation of the cancer status. As a number of studies focus on DNA methylat...

    Authors: Joungmin Choi and Heejoon Chae
    Citation: BMC Bioinformatics 2020 21:181
  30. Protein repeats can confound sequence analyses because the repetitiveness of their amino acid sequences lead to difficulties in identifying whether similar repeats are due to convergent or divergent evolution....

    Authors: Matthew Merski, Krzysztof Młynarczyk, Jan Ludwiczak, Jakub Skrzeczkowski, Stanisław Dunin-Horkawicz and Maria W. Górna
    Citation: BMC Bioinformatics 2020 21:179
  31. Heterogeneity in the definition and measurement of complex diseases in Genome-Wide Association Studies (GWAS) may lead to misdiagnoses and misclassification errors that can significantly impact discovery of di...

    Authors: Afrah Shafquat, Ronald G. Crystal and Jason G. Mezey
    Citation: BMC Bioinformatics 2020 21:178
  32. In the current supplement, we are proud to present seventeen relevant contributions from the 6th International Work-Conference on Bioinformatics and Biomedical Engineering (IWBBIO 2018), which was held during ...

    Authors: Olga Valenzuela, Fernando Rojas, Ignacio Rojas and Peter Glosekotter
    Citation: BMC Bioinformatics 2020 21(Suppl 7):153

    This article is part of a Supplement: Volume 21 Supplement 7

  33. Cervical cancer is the fourth most common tumor in women worldwide, mostly resulting from high-risk human papillomavirus (HR-HPV) with persistent infection.

    Authors: Wenting Wu, Lei Song, Yongtao Yang, Jianxin Wang, Hongtu Liu and Le Zhang
    Citation: BMC Bioinformatics 2020 21(Suppl 7):152

    This article is part of a Supplement: Volume 21 Supplement 7

  34. As regulators of gene expression, microRNAs (miRNAs) are increasingly recognized as critical biomarkers of human diseases. Till now, a series of computational methods have been proposed to predict new miRNA-di...

    Authors: Hailin Chen, Ruiyu Guo, Guanghui Li, Wei Zhang and Zuping Zhang
    Citation: BMC Bioinformatics 2020 21:176
  35. In the last decade, a large number of common variants underlying complex diseases have been identified through genome-wide association studies (GWASs). Summary data of the GWASs are freely and publicly availab...

    Authors: Jianjun Zhang, Xuan Guo, Samantha Gonzales, Jingjing Yang and Xuexia Wang
    Citation: BMC Bioinformatics 2020 21:172

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