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  1. Biological pathways represent chains of molecular interactions in biological systems that jointly form complex dynamic networks. The network structure changes from the significance of biological experiments an...

    Authors: Hsiang-Yun Wu, Martin Nöllenburg, Filipa L. Sousa and Ivan Viola
    Citation: BMC Bioinformatics 2019 20:187
  2. For many practical hypothesis testing (H-T) applications, the data are correlated and/or with heterogeneous variance structure. The regression t-test for weighted linear mixed-effects regression (LMER) is a legit...

    Authors: Yun Zhang, Gautam Bandyopadhyay, David J. Topham, Ann R. Falsey and Xing Qiu
    Citation: BMC Bioinformatics 2019 20:185
  3. Neural network based embedding models are receiving significant attention in the field of natural language processing due to their capability to effectively capture semantic information representing words, sen...

    Authors: Kathrin Blagec, Hong Xu, Asan Agibetov and Matthias Samwald
    Citation: BMC Bioinformatics 2019 20:178
  4. Establishment and maintenance of DNA methylation throughout the genome is an important epigenetic mechanism that regulates gene expression whose disruption has been implicated in human diseases like cancer. It...

    Authors: Garrett Jenkinson, Jordi Abante, Michael A. Koldobskiy, Andrew P. Feinberg and John Goutsias
    Citation: BMC Bioinformatics 2019 20:175
  5. Identifying transcriptional enhancers and other cis-regulatory modules (CRMs) is an important goal of post-sequencing genome annotation. Computational approaches provide a useful complement to empirical methods f...

    Authors: Hasiba Asma and Marc S. Halfon
    Citation: BMC Bioinformatics 2019 20:174
  6. Molecular simulations are used to provide insight into protein structure and dynamics, and have the potential to provide important context when predicting the impact of sequence variation on protein function. ...

    Authors: Matthew D. McCoy, Vikram Shivakumar, Sridhar Nimmagadda, Mohsin Saleet Jafri and Subha Madhavan
    Citation: BMC Bioinformatics 2019 20:171
  7. The detection of weak signals and selection of single particles from low-contrast micrographs of frozen hydrated biomolecules by cryo-electron microscopy (cryo-EM) represents a major practical bottleneck in cr...

    Authors: Wei Li Wang, Zhou Yu, Luis R. Castillo-Menendez, Joseph Sodroski and Youdong Mao
    Citation: BMC Bioinformatics 2019 20:169
  8. Genome-wide prediction has become the method of choice in animal and plant breeding. Prediction of breeding values and phenotypes are routinely performed using large genomic data sets with number of markers on...

    Authors: Patrik Waldmann, Maja Ferenčaković, Gábor Mészáros, Negar Khayatzadeh, Ino Curik and Johann Sölkner
    Citation: BMC Bioinformatics 2019 20:167
  9. The design of an experiment influences both what a researcher can measure, as well as how much confidence can be placed in the results. As such, it is vitally important that experimental design decisions do no...

    Authors: Daphne Ezer and Joseph Keir
    Citation: BMC Bioinformatics 2019 20:166
  10. Log-linear and multinomial modeling offer a flexible framework for genetic association analyses of offspring (child), parent-of-origin and maternal effects, based on genotype data from a variety of child-paren...

    Authors: Miriam Gjerdevik, Astanand Jugessur, Øystein A. Haaland, Julia Romanowska, Rolv T. Lie, Heather J. Cordell and Håkon K. Gjessing
    Citation: BMC Bioinformatics 2019 20:165
  11. For large international research consortia, such as those funded by the European Union’s Horizon 2020 programme or the Innovative Medicines Initiative, good data coordination practices and tools are essential ...

    Authors: Wei Gu, Reha Yildirimman, Emmanuel Van der Stuyft, Denny Verbeeck, Sascha Herzinger, Venkata Satagopam, Adriano Barbosa-Silva, Reinhard Schneider, Bodo Lange, Hans Lehrach, Yike Guo, David Henderson and Anthony Rowe
    Citation: BMC Bioinformatics 2019 20:164
  12. High-throughput techniques bring novel tools and also statistical challenges to genomic research. Identifying genes with differential expression between different species is an effective way to discover evolut...

    Authors: Yan Zhou, Jiadi Zhu, Tiejun Tong, Junhui Wang, Bingqing Lin and Jun Zhang
    Citation: BMC Bioinformatics 2019 20:163
  13. Bisulfite sequencing allows base-pair resolution profiling of DNA methylation and has recently been adapted for use in single-cells. Analyzing these data, including making comparisons with existing data, remai...

    Authors: Divy Kangeyan, Andrew Dunford, Sowmya Iyer, Chip Stewart, Megan Hanna, Gad Getz and Martin J. Aryee
    Citation: BMC Bioinformatics 2019 20:160
  14. The ab initio approaches to protein structure prediction usually employ the Monte Carlo technique to search the structural conformation that has the lowest energy. However, the widely-used energy functions are us...

    Authors: Chao Wang, Yi Wei, Haicang Zhang, Lupeng Kong, Shiwei Sun, Wei-Mou Zheng and Dongbo Bu
    Citation: BMC Bioinformatics 2019 20(Suppl 3):135

    This article is part of a Supplement: Volume 20 Supplement 3

  15. In the field of drug repositioning, it is assumed that similar drugs may treat similar diseases, therefore many existing computational methods need to compute the similarities of drugs and diseases. However, t...

    Authors: Guangsheng Wu, Juan Liu and Xiang Yue
    Citation: BMC Bioinformatics 2019 20(Suppl 3):134

    This article is part of a Supplement: Volume 20 Supplement 3

  16. The inference of splicing orthology relationships between gene transcripts is a basic step for the prediction of transcripts and the annotation of gene structures in genomes. The splicing structure of a sequen...

    Authors: Safa Jammali, Jean-David Aguilar, Esaie Kuitche and Aïda Ouangraoua
    Citation: BMC Bioinformatics 2019 20(Suppl 3):133

    This article is part of a Supplement: Volume 20 Supplement 3

  17. Cryo-electron tomography (cryo-ET) enables the 3D visualization of cellular organization in near-native state which plays important roles in the field of structural cell biology. However, due to the low signal...

    Authors: Ran Li, Xiangrui Zeng, Stephanie E. Sigmund, Ruogu Lin, Bo Zhou, Chang Liu, Kaiwen Wang, Rui Jiang, Zachary Freyberg, Hairong Lv and Min Xu
    Citation: BMC Bioinformatics 2019 20(Suppl 3):132

    This article is part of a Supplement: Volume 20 Supplement 3

  18. Detecting protein complex in protein-protein interaction (PPI) networks plays a significant part in bioinformatics field. It enables us to obtain the better understanding for the structures and characteristics...

    Authors: Xiujuan Lei, Ming Fang, Ling Guo and Fang-Xiang Wu
    Citation: BMC Bioinformatics 2019 20(Suppl 3):131

    This article is part of a Supplement: Volume 20 Supplement 3

  19. Recently, next-generation sequencing techniques have been applied for the detection of RNA secondary structures, which is referred to as high-throughput RNA structural (HTS) analyses, and many different protoc...

    Authors: Risa Kawaguchi, Hisanori Kiryu, Junichi Iwakiri and Jun Sese
    Citation: BMC Bioinformatics 2019 20(Suppl 3):130

    This article is part of a Supplement: Volume 20 Supplement 3

  20. Different types of viruses have different envelope proteins, and may have their shared or distinctive host-virus interactions which result in various post-infection effects in humans and animals. These effects...

    Authors: Quan Chen and Jun Zhu
    Citation: BMC Bioinformatics 2019 20(Suppl 3):129

    This article is part of a Supplement: Volume 20 Supplement 3

  21. RNAs can interact and form complexes, which have various biological roles. The secondary structure prediction of those complexes is a first step towards the identification of their 3D structure. We propose an ...

    Authors: Audrey Legendre, Eric Angel and Fariza Tahi
    Citation: BMC Bioinformatics 2019 20(Suppl 3):128

    This article is part of a Supplement: Volume 20 Supplement 3

  22. Super-enhancers or stretch enhancers are clusters of active enhancers that often coordinate cell-type specific gene regulation during development and differentiation. In addition, the enrichment of disease-ass...

    Authors: Jayoung Ryu, Hyunwoong Kim, Dongchan Yang, Andrew J. Lee and Inkyung Jung
    Citation: BMC Bioinformatics 2019 20(Suppl 3):127

    This article is part of a Supplement: Volume 20 Supplement 3

  23. Mapping expression quantitative trait loci (eQTLs) has provided insight into gene regulation. Compared to cis-eQTLs, the regulatory mechanisms of trans-eQTLs are less known. Previous studies suggest that trans...

    Authors: Nayang Shan, Zuoheng Wang and Lin Hou
    Citation: BMC Bioinformatics 2019 20(Suppl 3):126

    This article is part of a Supplement: Volume 20 Supplement 3

  24. Biological databases and repositories are incrementing in diversity and complexity over the years. This rapid expansion of current and new sources of biological knowledge raises serious problems of data access...

    Authors: Daniel Perez-Gil, Francisco J. Lopez, Joaquin Dopazo, Pablo Marin-Garcia, Augusto Rendon and Ignacio Medina
    Citation: BMC Bioinformatics 2019 20:159
  25. RNA-Seq technology is routinely used to characterize the transcriptome, and to detect gene expression differences among cell types, genotypes and conditions. Advances in short-read sequencing instruments such ...

    Authors: Refael Kohen, Jonathan Barlev, Gil Hornung, Gil Stelzer, Ester Feldmesser, Kiril Kogan, Marilyn Safran and Dena Leshkowitz
    Citation: BMC Bioinformatics 2019 20:154
  26. Whole exome sequencing (WES) has been widely used in human genetics research. BGISEQ-500 is a recently established next-generation sequencing platform. However, the performance of BGISEQ-500 on WES is not well...

    Authors: Yu Xu, Zhe Lin, Chong Tang, Yujing Tang, Yue Cai, Hongbin Zhong, Xuebin Wang, Wenwei Zhang, Chongjun Xu, Jingjing Wang, Jian Wang, Huanming Yang, Linfeng Yang and Qiang Gao
    Citation: BMC Bioinformatics 2019 20:153
  27. Long non-coding RNAs (lncRNAs) play an important role in regulating gene expression and are thus important for determining phenotypes. Most attempts to measure selection in lncRNAs have focused on the primary ...

    Authors: Maria Beatriz Walter Costa, Christian Höner zu Siederdissen, Marko Dunjić, Peter F. Stadler and Katja Nowick
    Citation: BMC Bioinformatics 2019 20:151
  28. Gene duplications are a major source of raw material for evolution and a likely contributor to the diversity of life on earth. Duplicate genes (i.e., homeologs, in the case of a whole genome duplication) may r...

    Authors: Ronald D. Smith, Taliesin J. Kinser, Gregory D. Conradi Smith and Joshua R. Puzey
    Citation: BMC Bioinformatics 2019 20:149
  29. Genetic studies in tetraploids are lagging behind in comparison with studies of diploids as the complex genetics of tetraploids require much more elaborated computational methodologies. Recent advancements in ...

    Authors: Konrad Zych, Gerrit Gort, Chris A. Maliepaard, Ritsert C. Jansen and Roeland E. Voorrips
    Citation: BMC Bioinformatics 2019 20:148
  30. Thanks to the recent advancements in next-generation sequencing (NGS) technologies, large amount of genomic data, which are short DNA sequences known as reads, has been accumulating. Diverse assemblers have be...

    Authors: Daehong Kwon, Jongin Lee and Jaebum Kim
    Citation: BMC Bioinformatics 2019 20:147
  31. Gene Set Enrichment Analysis (GSEA) is a powerful tool to identify enriched functional categories of informative biomarkers. Canonical GSEA takes one-dimensional feature scores derived from the data of one pla...

    Authors: Khong-Loon Tiong and Chen-Hsiang Yeang
    Citation: BMC Bioinformatics 2019 20:145
  32. Using meta-analysis, high-dimensional transcriptome expression data from public repositories can be merged to make group comparisons that have not been considered in the original studies. Merging of high-dimen...

    Authors: Christine Winter, Robin Kosch, Martin Ludlow, Albert D. M. E. Osterhaus and Klaus Jung
    Citation: BMC Bioinformatics 2019 20:144
  33. microRNAs (miRNAs) regulate gene expression at the post-transcriptional level and they play an important role in various biological processes in the human body. Therefore, identifying their regulation mechanis...

    Authors: Vu VH Pham, Junpeng Zhang, Lin Liu, Buu Truong, Taosheng Xu, Trung T. Nguyen, Jiuyong Li and Thuc D. Le
    Citation: BMC Bioinformatics 2019 20:143
  34. The segmentation of a 3D image is a task that can hardly be automatized in certain situations, notably when the contrast is low and/or the distance between elements is small. The existing supervised methods re...

    Authors: Bastien Kovac, Jérôme Fehrenbach, Ludivine Guillaume and Pierre Weiss
    Citation: BMC Bioinformatics 2019 20:142
  35. Functional antibody genes are often assembled by VDJ recombination and then diversified by somatic hypermutation. Identifying the combination of sourcing germline genes is critical to understand the process of...

    Authors: Qingchen Zhang, Lu Zhang, Chen Zhou, Yiyan Yang, Zuojing Yin, Dingfeng Wu, Kailin Tang and Zhiwei Cao
    Citation: BMC Bioinformatics 2019 20:137
  36. Gene co-expression studies can provide important insights into molecular and cellular signaling pathways. The GeneNetwork database is a unique resource for co-expression analysis using data from a variety of t...

    Authors: Sujoy Roy, Kazi I. Zaman, Robert W. Williams and Ramin Homayouni
    Citation: BMC Bioinformatics 2019 20(Suppl 2):104

    This article is part of a Supplement: Volume 20 Supplement 2

  37. One of the main challenges when analyzing complex metagenomics data is the fact that large amounts of information need to be presented in a comprehensive and easy-to-navigate way. In the process of analyzing F...

    Authors: Adam Thrash, Mark Arick II, Robyn A. Barbato, Robert M. Jones, Thomas A. Douglas, Julie Esdale, Edward J. Perkins and Natàlia Garcia-Reyero
    Citation: BMC Bioinformatics 2019 20(Suppl 2):103

    This article is part of a Supplement: Volume 20 Supplement 2

  38. The ability to predict which pairs of amino acid residues in a protein are in contact with each other offers many advantages for various areas of research that focus on proteins. For example, contact predictio...

    Authors: Joseph Luttrell IV, Tong Liu, Chaoyang Zhang and Zheng Wang
    Citation: BMC Bioinformatics 2019 20(Suppl 2):100

    This article is part of a Supplement: Volume 20 Supplement 2

  39. Barrett’s esophagus (BE) is most commonly seen as the condition in which the normal squamous epithelium lining of the esophagus is replaced by goblet cells. Many studies show that BE is a predisposing factor f...

    Authors: Visanu Wanchai, Jing Jin, Emine Bircan, Charis Eng and Mohammed Orloff
    Citation: BMC Bioinformatics 2019 20(Suppl 2):98

    This article is part of a Supplement: Volume 20 Supplement 2

  40. Adverse Drug Reactions (ADRs) are of great public health concern. FDA-approved drug labeling summarizes ADRs of a drug product mainly in three sections, i.e., Boxed Warning (BW), Warnings and Precautions (WP),...

    Authors: Leihong Wu, Taylor Ingle, Zhichao Liu, Anna Zhao-Wong, Stephen Harris, Shraddha Thakkar, Guangxu Zhou, Junshuang Yang, Joshua Xu, Darshan Mehta, Weigong Ge, Weida Tong and Hong Fang
    Citation: BMC Bioinformatics 2019 20(Suppl 2):97

    This article is part of a Supplement: Volume 20 Supplement 2

  41. Dermoscopy is one of the common and effective imaging techniques in diagnosis of skin cancer, especially for pigmented lesions. Accurate skin lesion border detection is the key to extract important dermoscopic...

    Authors: Mustafa Bayraktar, Sinan Kockara, Tansel Halic, Mutlu Mete, Henry K. Wong and Kamran Iqbal
    Citation: BMC Bioinformatics 2019 20(Suppl 2):91

    This article is part of a Supplement: Volume 20 Supplement 2

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