scholarly journals SIA: Selection Inference Using the Ancestral Recombination Graph

2021 ◽  
Author(s):  
Hussein A Hejase ◽  
Ziyi Mo ◽  
Leonardo Campagna ◽  
Adam Siepel

Detecting signals of selection from genomic data is a central problem in population genetics. Coupling the rich information in the ancestral recombination graph (ARG) with a powerful and scalable deep learning framework, we developed a novel method to detect and quantify positive selection: Selection Inference using the Ancestral recombination graph (SIA). Built on a Long Short-Term Memory (LSTM) architecture, a particular type of a Recurrent Neural Network (RNN), SIA can be trained to explicitly infer a full range of selection coefficients, as well as the allele frequency trajectory and time of selection onset. We benchmarked SIA extensively on simulations under a European human demographic model, and found that it performs as well or better as some of the best available methods, including state-of-the-art machine-learning and ARG-based methods. In addition, we used SIA to estimate selection coefficients at several loci associated with human phenotypes of interest. SIA detected novel signals of selection particular to the European (CEU) population at the MC1R and ABCC11 loci. In addition, it recapitulated signals of selection at the LCT locus and several pigmentation-related genes. Finally, we reanalyzed polymorphism data of a collection of recently radiated southern capuchino seedeater taxa in the genus Sporophila to quantify the strength of selection and improved the power of our previous methods to detect partial soft sweeps. Overall, SIA uses deep learning to leverage the ARG and thereby provides new insight into how selective sweeps shape genomic diversity.

2020 ◽  
Vol 34 (04) ◽  
pp. 5029-5036
Author(s):  
You-Wei Luo ◽  
Chuan-Xian Ren ◽  
Pengfei Ge ◽  
Ke-Kun Huang ◽  
Yu-Feng Yu

Unsupervised domain adaptation is effective in leveraging the rich information from the source domain to the unsupervised target domain. Though deep learning and adversarial strategy make an important breakthrough in the adaptability of features, there are two issues to be further explored. First, the hard-assigned pseudo labels on the target domain are risky to the intrinsic data structure. Second, the batch-wise training manner in deep learning limits the description of the global structure. In this paper, a Riemannian manifold learning framework is proposed to achieve transferability and discriminability consistently. As to the first problem, this method establishes a probabilistic discriminant criterion on the target domain via soft labels. Further, this criterion is extended to a global approximation scheme for the second issue; such approximation is also memory-saving. The manifold metric alignment is exploited to be compatible with the embedding space. A theoretical error bound is derived to facilitate the alignment. Extensive experiments have been conducted to investigate the proposal and results of the comparison study manifest the superiority of consistent manifold learning framework.


SLEEP ◽  
2021 ◽  
Author(s):  
Samaneh Nasiri ◽  
Gari D Clifford

Abstract Current approaches to automated sleep staging from the electroencephalogram (EEG) rely on constructing a large labeled training and test corpora by aggregating data from different individuals. However, many of the subjects in the training set may exhibit changes in the EEG that are very different from the subjects in the test set. Training an algorithm on such data without accounting for this diversity can cause underperformance. Moreover, test data may have unexpected sensor misplacement or different instrument noise and spectral responses. This work proposes a novel method to learn relevant individuals based on their similarities effectively. The proposed method embeds all training patients into a shared and robust feature space. Individuals that share strong statistical relationships and are similar based on their EEG signals are clustered in this feature space before being passed to a deep learning framework for classification. Using 994 patient EEGs from the 2018 Physionet Challenge (≈ 6,561 hours of recording), we demonstrate that the clustering approach significantly boosts performance compared to state-of-the-art deep learning approaches. The proposed method improves, on average, a precision score from 0.72 to 0.81, a sensitivity score from 0.74 to 0.82, and a Cohen’s Kappa coefficient from 0.64 to 0.75 under 10-fold cross-validation.


2018 ◽  
Vol 7 (3.27) ◽  
pp. 258 ◽  
Author(s):  
Yecheng Yao ◽  
Jungho Yi ◽  
Shengjun Zhai ◽  
Yuwen Lin ◽  
Taekseung Kim ◽  
...  

The decentralization of cryptocurrencies has greatly reduced the level of central control over them, impacting international relations and trade. Further, wide fluctuations in cryptocurrency price indicate an urgent need for an accurate way to forecast this price. This paper proposes a novel method to predict cryptocurrency price by considering various factors such as market cap, volume, circulating supply, and maximum supply based on deep learning techniques such as the recurrent neural network (RNN) and the long short-term memory (LSTM),which are effective learning models for training data, with the LSTM being better at recognizing longer-term associations. The proposed approach is implemented in Python and validated for benchmark datasets. The results verify the applicability of the proposed approach for the accurate prediction of cryptocurrency price.


2021 ◽  
Vol 2 ◽  
Author(s):  
Yongliang Qiao ◽  
Cameron Clark ◽  
Sabrina Lomax ◽  
He Kong ◽  
Daobilige Su ◽  
...  

Individual cattle identification is a prerequisite and foundation for precision livestock farming. Existing methods for cattle identification require radio frequency or visual ear tags, all of which are prone to loss or damage. Here, we propose and implement a new unified deep learning approach to cattle identification using video analysis. The proposed deep learning framework is composed of a Convolutional Neural Network (CNN) and Bidirectional Long Short-Term Memory (BiLSTM) with a self-attention mechanism. More specifically, the Inception-V3 CNN was used to extract features from a cattle video dataset taken in a feedlot with rear-view. Extracted features were then fed to a BiLSTM layer to capture spatio-temporal information. Then, self-attention was employed to provide a different focus on the features captured by BiLSTM for the final step of cattle identification. We used a total of 363 rear-view videos from 50 cattle at three different times with an interval of 1 month between data collection periods. The proposed method achieved 93.3% identification accuracy using a 30-frame video length, which outperformed current state-of-the-art methods (Inception-V3, MLP, SimpleRNN, LSTM, and BiLSTM). Furthermore, two different attention schemes, namely, additive and multiplicative attention mechanisms were compared. Our results show that the additive attention mechanism achieved 93.3% accuracy and 91.0% recall, greater than multiplicative attention mechanism with 90.7% accuracy and 87.0% recall. Video length also impacted accuracy, with video sequence length up to 30-frames enhancing identification performance. Overall, our approach can capture key spatio-temporal features to improve cattle identification accuracy, enabling automated cattle identification for precision livestock farming.


2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Zhenbo Lu ◽  
Wei Zhou ◽  
Shixiang Zhang ◽  
Chen Wang

Quick and accurate crash detection is important for saving lives and improved traffic incident management. In this paper, a feature fusion-based deep learning framework was developed for video-based urban traffic crash detection task, aiming at achieving a balance between detection speed and accuracy with limited computing resource. In this framework, a residual neural network (ResNet) combined with attention modules was proposed to extract crash-related appearance features from urban traffic videos (i.e., a crash appearance feature extractor), which were further fed to a spatiotemporal feature fusion model, Conv-LSTM (Convolutional Long Short-Term Memory), to simultaneously capture appearance (static) and motion (dynamic) crash features. The proposed model was trained by a set of video clips covering 330 crash and 342 noncrash events. In general, the proposed model achieved an accuracy of 87.78% on the testing dataset and an acceptable detection speed (FPS > 30 with GTX 1060). Thanks to the attention module, the proposed model can capture the localized appearance features (e.g., vehicle damage and pedestrian fallen-off) of crashes better than conventional convolutional neural networks. The Conv-LSTM module outperformed conventional LSTM in terms of capturing motion features of crashes, such as the roadway congestion and pedestrians gathering after crashes. Compared to traditional motion-based crash detection model, the proposed model achieved higher detection accuracy. Moreover, it could detect crashes much faster than other feature fusion-based models (e.g., C3D). The results show that the proposed model is a promising video-based urban traffic crash detection algorithm that could be used in practice in the future.


2019 ◽  
Vol 3 (1) ◽  
Author(s):  
Sixian You ◽  
Yi Sun ◽  
Lin Yang ◽  
Jaena Park ◽  
Haohua Tu ◽  
...  

AbstractRecent advances in label-free virtual histology promise a new era for real-time molecular diagnosis in the operating room and during biopsy procedures. To take full advantage of the rich, multidimensional information provided by these technologies, reproducible and reliable computational tools that could facilitate the diagnosis are in great demand. In this study, we developed a deep-learning-based framework to recognize cancer versus normal human breast tissue from real-time label-free virtual histology images, with a tile-level AUC (area under receiver operating curve) of 95% and slide-level AUC of 100% on unseen samples. Furthermore, models trained on a high-quality laboratory-generated dataset can generalize to independent datasets acquired from a portable intraoperative version of the imaging technology with a physics-based adapted design. Classification activation maps and final feature visualization revealed discriminative patterns, such as tumor cells and tumor-associated vesicles, that are highly associated with cancer status. These results demonstrate that through the combination of real-time virtual histopathology and a deep-learning framework, accurate real-time diagnosis could be achieved in point-of-procedure clinical applications.


2019 ◽  
Vol 20 (S16) ◽  
Author(s):  
Xusheng Li ◽  
Chengcheng Fu ◽  
Ran Zhong ◽  
Duo Zhong ◽  
Tingting He ◽  
...  

Abstract Background Microbes have been shown to play a crucial role in various ecosystems. Many human diseases have been proved to be associated with bacteria, so it is essential to extract the interaction between bacteria for medical research and application. At the same time, many bacterial interactions with certain experimental evidences have been reported in biomedical literature. Integrating this knowledge into a database or knowledge graph could accelerate the progress of biomedical research. A crucial and necessary step in interaction extraction (IE) is named entity recognition (NER). However, due to the specificity of bacterial naming, there are still challenges in bacterial named entity recognition. Results In this paper, we propose a novel method for bacterial named entity recognition, which integrates domain features into a deep learning framework combining bidirectional long short-term memory network and convolutional neural network. When domain features are not added, F1-measure of the model achieves 89.14%. After part-of-speech (POS) features and dictionary features are added, F1-measure of the model achieves 89.7%. Hence, our model achieves an advanced performance in bacterial NER with the domain features. Conclusions We propose an efficient method for bacterial named entity recognition which combines domain features and deep learning models. Compared with the previous methods, the effect of our model has been improved. At the same time, the process of complex manual extraction and feature design are significantly reduced.


Genes ◽  
2019 ◽  
Vol 10 (4) ◽  
pp. 273 ◽  
Author(s):  
Xiu-Qin Liu ◽  
Bing-Xiu Li ◽  
Guan-Rong Zeng ◽  
Qiao-Yue Liu ◽  
Dong-Mei Ai

With the rapid development of high-throughput sequencing technology, a large number of transcript sequences have been discovered, and how to identify long non-coding RNAs (lncRNAs) from transcripts is a challenging task. The identification and inclusion of lncRNAs not only can more clearly help us to understand life activities themselves, but can also help humans further explore and study the disease at the molecular level. At present, the detection of lncRNAs mainly includes two forms of calculation and experiment. Due to the limitations of bio sequencing technology and ineluctable errors in sequencing processes, the detection effect of these methods is not very satisfactory. In this paper, we constructed a deep-learning model to effectively distinguish lncRNAs from mRNAs. We used k-mer embedding vectors obtained through training the GloVe algorithm as input features and set up the deep learning framework to include a bidirectional long short-term memory model (BLSTM) layer and a convolutional neural network (CNN) layer with three additional hidden layers. By testing our model, we have found that it obtained the best values of 97.9%, 96.4% and 99.0% in F1score, accuracy and auROC, respectively, which showed better classification performance than the traditional PLEK, CNCI and CPC methods for identifying lncRNAs. We hope that our model will provide effective help in distinguishing mature mRNAs from lncRNAs, and become a potential tool to help humans understand and detect the diseases associated with lncRNAs.


Sign in / Sign up

Export Citation Format

Share Document