BackgroundThe analysis of single-cell RNA sequencing (scRNAseq) data plays an important role in understanding the intrinsic and extrinsic cellular processes in biological and biomedical research. One significant effort in this area is the detection of differentially expressed (DE) genes. scRNAseq data, however, are highly heterogeneous and have a large number of zero counts, which introduces challenges in detecting DE genes. Addressing these challenges requires employing new approaches beyond the conventional ones, which are based on a nonzero difference in average expression. Several methods have been developed for differential gene expression analysis of scRNAseq data. To provide guidance on choosing an appropriate tool or developing a new one, it is necessary to evaluate and compare the performance of differential gene expression analysis methods for scRNAseq data.ResultsIn this study, we conducted a comprehensive evaluation of the performance of eleven differential gene expression analysis software tools, which are designed for scRNAseq data or can be applied to them. We used simulated and real data to evaluate the accuracy and precision of detection. Using simulated data, we investigated the effect of sample size on the detection accuracy of the tools. Using real data, we examined the agreement among the tools in identifying DE genes, the run time of the tools, and the biological relevance of the detected DE genes.ConclusionsIn general, agreement among the tools in calling DE genes is not high. There is a trade-off between true-positive rates and the precision of calling DE genes. Methods with higher true positive rates tend to show low precision due to their introducing false positives, whereas methods with high precision show low true positive rates due to identifying few DE genes. We observed that current methods designed for scRNAseq data do not tend to show better performance compared to methods designed for bulk RNAseq data. Data multimodality and abundance of zero read counts are the main characteristics of scRNAseq data, which play important roles in the performance of differential gene expression analysis methods and need to be considered in terms of the development of new methods.Electronic supplementary materialThe online version of this article (10.1186/s12859-019-2599-6) contains supplementary material, which is available to authorized users.

Background The limitations of traditional computer-aided detection (CAD) systems for mammography, the extreme importance of early detection of breast cancer and the high impact of the false diagnosis of patients drive researchers to investigate deep learning (DL) methods for mammograms (MGs). Recent breakthroughs in DL, in particular, convolutional neural networks (CNNs) have achieved remarkable advances in the medical fields. Specifically, CNNs are used in mammography for lesion localization and detection, risk assessment, image retrieval, and classification tasks. CNNs also help radiologists providing more accurate diagnosis by delivering precise quantitative analysis of suspicious lesions. Results In this survey, we conducted a detailed review of the strengths, limitations, and performance of the most recent CNNs applications in analyzing MG images. It summarizes 83 research studies for applying CNNs on various tasks in mammography. It focuses on finding the best practices used in these research studies to improve the diagnosis accuracy. This survey also provides a deep insight into the architecture of CNNs used for various tasks. Furthermore, it describes the most common publicly available MG repositories and highlights their main features and strengths. Conclusions The mammography research community can utilize this survey as a basis for their current and future studies. The given comparison among common publicly available MG repositories guides the community to select the most appropriate database for their application(s). Moreover, this survey lists the best practices that improve the performance of CNNs including the pre-processing of images and the use of multi-view images. In addition, other listed techniques like transfer learning (TL), data augmentation, batch normalization, and dropout are appealing solutions to reduce overfitting and increase the generalization of the CNN models. Finally, this survey identifies the research challenges and directions that require further investigations by the community. Electronic supplementary material The online version of this article (10.1186/s12859-019-2823-4) contains supplementary material, which is available to authorized users.

BackgroundRecently copy number variation (CNV) has gained considerable interest as a type of genomic/genetic variation that plays an important role in disease susceptibility. Advances in sequencing technology have created an opportunity for detecting CNVs more accurately. Recently whole exome sequencing (WES) has become primary strategy for sequencing patient samples and study their genomics aberrations. However, compared to whole genome sequencing, WES introduces more biases and noise that make CNV detection very challenging. Additionally, tumors’ complexity makes the detection of cancer specific CNVs even more difficult. Although many CNV detection tools have been developed since introducing NGS data, there are few tools for somatic CNV detection for WES data in cancer.ResultsIn this study, we evaluated the performance of the most recent and commonly used CNV detection tools for WES data in cancer to address their limitations and provide guidelines for developing new ones. We focused on the tools that have been designed or have the ability to detect cancer somatic aberrations. We compared the performance of the tools in terms of sensitivity and false discovery rate (FDR) using real data and simulated data. Comparative analysis of the results of the tools showed that there is a low consensus among the tools in calling CNVs. Using real data, tools show moderate sensitivity (~50% - ~80%), fair specificity (~70% - ~94%) and poor FDRs (~27% - ~60%). Also, using simulated data we observed that increasing the coverage more than 10× in exonic regions does not improve the detection power of the tools significantly.ConclusionsThe limited performance of the current CNV detection tools for WES data in cancer indicates the need for developing more efficient and precise CNV detection methods. Due to the complexity of tumors and high level of noise and biases in WES data, employing advanced novel segmentation, normalization and de-noising techniques that are designed specifically for cancer data is necessary. Also, CNV detection development suffers from the lack of a gold standard for performance evaluation. Finally, developing tools with user-friendly user interfaces and visualization features can enhance CNV studies for a broader range of users.Electronic supplementary materialThe online version of this article (doi:10.1186/s12859-017-1705-x) contains supplementary material, which is available to authorized users.