279 skills found · Page 1 of 10
google / DeepvariantDeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.
cggh / Scikit AllelA Python package for exploring and analysing genetic variation data
tskit-dev / MsprimeSimulate ARGs and genomic sequence data using population genetic models
atks / VtA tool set for short variant discovery in genetic sequence data.
Aastha2104 / Parkinson Disease PredictionIntroduction Parkinson’s Disease is the second most prevalent neurodegenerative disorder after Alzheimer’s, affecting more than 10 million people worldwide. Parkinson’s is characterized primarily by the deterioration of motor and cognitive ability. There is no single test which can be administered for diagnosis. Instead, doctors must perform a careful clinical analysis of the patient’s medical history. Unfortunately, this method of diagnosis is highly inaccurate. A study from the National Institute of Neurological Disorders finds that early diagnosis (having symptoms for 5 years or less) is only 53% accurate. This is not much better than random guessing, but an early diagnosis is critical to effective treatment. Because of these difficulties, I investigate a machine learning approach to accurately diagnose Parkinson’s, using a dataset of various speech features (a non-invasive yet characteristic tool) from the University of Oxford. Why speech features? Speech is very predictive and characteristic of Parkinson’s disease; almost every Parkinson’s patient experiences severe vocal degradation (inability to produce sustained phonations, tremor, hoarseness), so it makes sense to use voice to diagnose the disease. Voice analysis gives the added benefit of being non-invasive, inexpensive, and very easy to extract clinically. Background Parkinson's Disease Parkinson’s is a progressive neurodegenerative condition resulting from the death of the dopamine containing cells of the substantia nigra (which plays an important role in movement). Symptoms include: “frozen” facial features, bradykinesia (slowness of movement), akinesia (impairment of voluntary movement), tremor, and voice impairment. Typically, by the time the disease is diagnosed, 60% of nigrostriatal neurons have degenerated, and 80% of striatal dopamine have been depleted. Performance Metrics TP = true positive, FP = false positive, TN = true negative, FN = false negative Accuracy: (TP+TN)/(P+N) Matthews Correlation Coefficient: 1=perfect, 0=random, -1=completely inaccurate Algorithms Employed Logistic Regression (LR): Uses the sigmoid logistic equation with weights (coefficient values) and biases (constants) to model the probability of a certain class for binary classification. An output of 1 represents one class, and an output of 0 represents the other. Training the model will learn the optimal weights and biases. Linear Discriminant Analysis (LDA): Assumes that the data is Gaussian and each feature has the same variance. LDA estimates the mean and variance for each class from the training data, and then uses properties of statistics (Bayes theorem , Gaussian distribution, etc) to compute the probability of a particular instance belonging to a given class. The class with the largest probability is the prediction. k Nearest Neighbors (KNN): Makes predictions about the validation set using the entire training set. KNN makes a prediction about a new instance by searching through the entire set to find the k “closest” instances. “Closeness” is determined using a proximity measurement (Euclidean) across all features. The class that the majority of the k closest instances belong to is the class that the model predicts the new instance to be. Decision Tree (DT): Represented by a binary tree, where each root node represents an input variable and a split point, and each leaf node contains an output used to make a prediction. Neural Network (NN): Models the way the human brain makes decisions. Each neuron takes in 1+ inputs, and then uses an activation function to process the input with weights and biases to produce an output. Neurons can be arranged into layers, and multiple layers can form a network to model complex decisions. Training the network involves using the training instances to optimize the weights and biases. Naive Bayes (NB): Simplifies the calculation of probabilities by assuming that all features are independent of one another (a strong but effective assumption). Employs Bayes Theorem to calculate the probabilities that the instance to be predicted is in each class, then finds the class with the highest probability. Gradient Boost (GB): Generally used when seeking a model with very high predictive performance. Used to reduce bias and variance (“error”) by combining multiple “weak learners” (not very good models) to create a “strong learner” (high performance model). Involves 3 elements: a loss function (error function) to be optimized, a weak learner (decision tree) to make predictions, and an additive model to add trees to minimize the loss function. Gradient descent is used to minimize error after adding each tree (one by one). Engineering Goal Produce a machine learning model to diagnose Parkinson’s disease given various features of a patient’s speech with at least 90% accuracy and/or a Matthews Correlation Coefficient of at least 0.9. Compare various algorithms and parameters to determine the best model for predicting Parkinson’s. Dataset Description Source: the University of Oxford 195 instances (147 subjects with Parkinson’s, 48 without Parkinson’s) 22 features (elements that are possibly characteristic of Parkinson’s, such as frequency, pitch, amplitude / period of the sound wave) 1 label (1 for Parkinson’s, 0 for no Parkinson’s) Project Pipeline pipeline Summary of Procedure Split the Oxford Parkinson’s Dataset into two parts: one for training, one for validation (evaluate how well the model performs) Train each of the following algorithms with the training set: Logistic Regression, Linear Discriminant Analysis, k Nearest Neighbors, Decision Tree, Neural Network, Naive Bayes, Gradient Boost Evaluate results using the validation set Repeat for the following training set to validation set splits: 80% training / 20% validation, 75% / 25%, and 70% / 30% Repeat for a rescaled version of the dataset (scale all the numbers in the dataset to a range from 0 to 1: this helps to reduce the effect of outliers) Conduct 5 trials and average the results Data a_o a_r m_o m_r Data Analysis In general, the models tended to perform the best (both in terms of accuracy and Matthews Correlation Coefficient) on the rescaled dataset with a 75-25 train-test split. The two highest performing algorithms, k Nearest Neighbors and the Neural Network, both achieved an accuracy of 98%. The NN achieved a MCC of 0.96, while KNN achieved a MCC of 0.94. These figures outperform most existing literature and significantly outperform current methods of diagnosis. Conclusion and Significance These robust results suggest that a machine learning approach can indeed be implemented to significantly improve diagnosis methods of Parkinson’s disease. Given the necessity of early diagnosis for effective treatment, my machine learning models provide a very promising alternative to the current, rather ineffective method of diagnosis. Current methods of early diagnosis are only 53% accurate, while my machine learning model produces 98% accuracy. This 45% increase is critical because an accurate, early diagnosis is needed to effectively treat the disease. Typically, by the time the disease is diagnosed, 60% of nigrostriatal neurons have degenerated, and 80% of striatal dopamine have been depleted. With an earlier diagnosis, much of this degradation could have been slowed or treated. My results are very significant because Parkinson’s affects over 10 million people worldwide who could benefit greatly from an early, accurate diagnosis. Not only is my machine learning approach more accurate in terms of diagnostic accuracy, it is also more scalable, less expensive, and therefore more accessible to people who might not have access to established medical facilities and professionals. The diagnosis is also much simpler, requiring only a 10-15 second voice recording and producing an immediate diagnosis. Future Research Given more time and resources, I would investigate the following: Create a mobile application which would allow the user to record his/her voice, extract the necessary vocal features, and feed it into my machine learning model to diagnose Parkinson’s. Use larger datasets in conjunction with the University of Oxford dataset. Tune and improve my models even further to achieve even better results. Investigate different structures and types of neural networks. Construct a novel algorithm specifically suited for the prediction of Parkinson’s. Generalize my findings and algorithms for all types of dementia disorders, such as Alzheimer’s. References Bind, Shubham. "A Survey of Machine Learning Based Approaches for Parkinson Disease Prediction." International Journal of Computer Science and Information Technologies 6 (2015): n. pag. International Journal of Computer Science and Information Technologies. 2015. Web. 8 Mar. 2017. Brooks, Megan. "Diagnosing Parkinson's Disease Still Challenging." Medscape Medical News. National Institute of Neurological Disorders, 31 July 2014. Web. 20 Mar. 2017. Exploiting Nonlinear Recurrence and Fractal Scaling Properties for Voice Disorder Detection', Little MA, McSharry PE, Roberts SJ, Costello DAE, Moroz IM. BioMedical Engineering OnLine 2007, 6:23 (26 June 2007) Hashmi, Sumaiya F. "A Machine Learning Approach to Diagnosis of Parkinson’s Disease."Claremont Colleges Scholarship. Claremont College, 2013. Web. 10 Mar. 2017. Karplus, Abraham. "Machine Learning Algorithms for Cancer Diagnosis." Machine Learning Algorithms for Cancer Diagnosis (n.d.): n. pag. Mar. 2012. Web. 20 Mar. 2017. Little, Max. "Parkinsons Data Set." UCI Machine Learning Repository. University of Oxford, 26 June 2008. Web. 20 Feb. 2017. Ozcift, Akin, and Arif Gulten. "Classifier Ensemble Construction with Rotation Forest to Improve Medical Diagnosis Performance of Machine Learning Algorithms." Computer Methods and Programs in Biomedicine 104.3 (2011): 443-51. Semantic Scholar. 2011. Web. 15 Mar. 2017. "Parkinson’s Disease Dementia." UCI MIND. N.p., 19 Oct. 2015. Web. 17 Feb. 2017. Salvatore, C., A. Cerasa, I. Castiglioni, F. Gallivanone, A. Augimeri, M. Lopez, G. Arabia, M. Morelli, M.c. Gilardi, and A. Quattrone. "Machine Learning on Brain MRI Data for Differential Diagnosis of Parkinson's Disease and Progressive Supranuclear Palsy."Journal of Neuroscience Methods 222 (2014): 230-37. 2014. Web. 18 Mar. 2017. Shahbakhi, Mohammad, Danial Taheri Far, and Ehsan Tahami. "Speech Analysis for Diagnosis of Parkinson’s Disease Using Genetic Algorithm and Support Vector Machine."Journal of Biomedical Science and Engineering 07.04 (2014): 147-56. Scientific Research. July 2014. Web. 2 Mar. 2017. "Speech and Communication." Speech and Communication. Parkinson's Disease Foundation, n.d. Web. 22 Mar. 2017. Sriram, Tarigoppula V. S., M. Venkateswara Rao, G. V. Satya Narayana, and D. S. V. G. K. Kaladhar. "Diagnosis of Parkinson Disease Using Machine Learning and Data Mining Systems from Voice Dataset." SpringerLink. Springer, Cham, 01 Jan. 1970. Web. 17 Mar. 2017.
statgen / LocuszoomA Javascript/d3 embeddable plugin for interactively visualizing statistical genetic data from customizable sources.
mentatpsi / OSGenomeAn Open Source Web Application for Genetic Data (SNPs) using 23AndMe and Data Crawling Technologies
bhattlab / MGEfinderA toolbox for identifying mobile genetic element (MGE) insertions from short-read sequencing data of bacterial isolates.
phageParser / PhageParserA project to extract CRISPR information from open genetic data.
richarddurbin / PbwtImplementation of Positional Burrows-Wheeler Transform for genetic data
MinhasKamal / AlgorithmImplementationsImplementation of Elementary Algorithms (infix-prefix-postfix-evaluation-to-longest-common-increasing-sub-sequence-activity-selection-balance-kd-binary-heap-binomial-tree-breath-depth-first-search-max-flow-shortest-path-topological-sort-calculus-derivative-integration-forward-interpolation-simpson-rule-intersecting-area-non-linear-equation-jacobis-gauss-seidal-bisection-false-position-newton-raphson-fixed-point-secant-cigarette-smokers-genetic-huffman-a-a*-star-binary-knuth-morris-pratt-kmp-quick-thread-priority-based-premitive-shortest-job-non-primitive-arithmetic-expression-data-structures-list-node-implementation-one-two-way-linked-stack-string-graph-numerical-methods-equation-solving-solve-process-problem-search-sort-prime-ugly-friend-perfect-fibonacci-factorial-factor-number)
ramachandran-lab / PongFast analysis and visualization of latent clusters in population genetic data
Aryia-Behroziuan / NeuronsAn ANN is a model based on a collection of connected units or nodes called "artificial neurons", which loosely model the neurons in a biological brain. Each connection, like the synapses in a biological brain, can transmit information, a "signal", from one artificial neuron to another. An artificial neuron that receives a signal can process it and then signal additional artificial neurons connected to it. In common ANN implementations, the signal at a connection between artificial neurons is a real number, and the output of each artificial neuron is computed by some non-linear function of the sum of its inputs. The connections between artificial neurons are called "edges". Artificial neurons and edges typically have a weight that adjusts as learning proceeds. The weight increases or decreases the strength of the signal at a connection. Artificial neurons may have a threshold such that the signal is only sent if the aggregate signal crosses that threshold. Typically, artificial neurons are aggregated into layers. Different layers may perform different kinds of transformations on their inputs. Signals travel from the first layer (the input layer) to the last layer (the output layer), possibly after traversing the layers multiple times. The original goal of the ANN approach was to solve problems in the same way that a human brain would. However, over time, attention moved to performing specific tasks, leading to deviations from biology. Artificial neural networks have been used on a variety of tasks, including computer vision, speech recognition, machine translation, social network filtering, playing board and video games and medical diagnosis. Deep learning consists of multiple hidden layers in an artificial neural network. This approach tries to model the way the human brain processes light and sound into vision and hearing. Some successful applications of deep learning are computer vision and speech recognition.[68] Decision trees Main article: Decision tree learning Decision tree learning uses a decision tree as a predictive model to go from observations about an item (represented in the branches) to conclusions about the item's target value (represented in the leaves). It is one of the predictive modeling approaches used in statistics, data mining, and machine learning. Tree models where the target variable can take a discrete set of values are called classification trees; in these tree structures, leaves represent class labels and branches represent conjunctions of features that lead to those class labels. Decision trees where the target variable can take continuous values (typically real numbers) are called regression trees. In decision analysis, a decision tree can be used to visually and explicitly represent decisions and decision making. In data mining, a decision tree describes data, but the resulting classification tree can be an input for decision making. Support vector machines Main article: Support vector machines Support vector machines (SVMs), also known as support vector networks, are a set of related supervised learning methods used for classification and regression. Given a set of training examples, each marked as belonging to one of two categories, an SVM training algorithm builds a model that predicts whether a new example falls into one category or the other.[69] An SVM training algorithm is a non-probabilistic, binary, linear classifier, although methods such as Platt scaling exist to use SVM in a probabilistic classification setting. In addition to performing linear classification, SVMs can efficiently perform a non-linear classification using what is called the kernel trick, implicitly mapping their inputs into high-dimensional feature spaces. Illustration of linear regression on a data set. Regression analysis Main article: Regression analysis Regression analysis encompasses a large variety of statistical methods to estimate the relationship between input variables and their associated features. Its most common form is linear regression, where a single line is drawn to best fit the given data according to a mathematical criterion such as ordinary least squares. The latter is often extended by regularization (mathematics) methods to mitigate overfitting and bias, as in ridge regression. When dealing with non-linear problems, go-to models include polynomial regression (for example, used for trendline fitting in Microsoft Excel[70]), logistic regression (often used in statistical classification) or even kernel regression, which introduces non-linearity by taking advantage of the kernel trick to implicitly map input variables to higher-dimensional space. Bayesian networks Main article: Bayesian network A simple Bayesian network. Rain influences whether the sprinkler is activated, and both rain and the sprinkler influence whether the grass is wet. A Bayesian network, belief network, or directed acyclic graphical model is a probabilistic graphical model that represents a set of random variables and their conditional independence with a directed acyclic graph (DAG). For example, a Bayesian network could represent the probabilistic relationships between diseases and symptoms. Given symptoms, the network can be used to compute the probabilities of the presence of various diseases. Efficient algorithms exist that perform inference and learning. Bayesian networks that model sequences of variables, like speech signals or protein sequences, are called dynamic Bayesian networks. Generalizations of Bayesian networks that can represent and solve decision problems under uncertainty are called influence diagrams. Genetic algorithms Main article: Genetic algorithm A genetic algorithm (GA) is a search algorithm and heuristic technique that mimics the process of natural selection, using methods such as mutation and crossover to generate new genotypes in the hope of finding good solutions to a given problem. In machine learning, genetic algorithms were used in the 1980s and 1990s.[71][72] Conversely, machine learning techniques have been used to improve the performance of genetic and evolutionary algorithms.[73] Training models Usually, machine learning models require a lot of data in order for them to perform well. Usually, when training a machine learning model, one needs to collect a large, representative sample of data from a training set. Data from the training set can be as varied as a corpus of text, a collection of images, and data collected from individual users of a service. Overfitting is something to watch out for when training a machine learning model. Federated learning Main article: Federated learning Federated learning is an adapted form of distributed artificial intelligence to training machine learning models that decentralizes the training process, allowing for users' privacy to be maintained by not needing to send their data to a centralized server. This also increases efficiency by decentralizing the training process to many devices. For example, Gboard uses federated machine learning to train search query prediction models on users' mobile phones without having to send individual searches back to Google.[74] Applications There are many applications for machine learning, including: Agriculture Anatomy Adaptive websites Affective computing Banking Bioinformatics Brain–machine interfaces Cheminformatics Citizen science Computer networks Computer vision Credit-card fraud detection Data quality DNA sequence classification Economics Financial market analysis[75] General game playing Handwriting recognition Information retrieval Insurance Internet fraud detection Linguistics Machine learning control Machine perception Machine translation Marketing Medical diagnosis Natural language processing Natural language understanding Online advertising Optimization Recommender systems Robot locomotion Search engines Sentiment analysis Sequence mining Software engineering Speech recognition Structural health monitoring Syntactic pattern recognition Telecommunication Theorem proving Time series forecasting User behavior analytics In 2006, the media-services provider Netflix held the first "Netflix Prize" competition to find a program to better predict user preferences and improve the accuracy of its existing Cinematch movie recommendation algorithm by at least 10%. A joint team made up of researchers from AT&T Labs-Research in collaboration with the teams Big Chaos and Pragmatic Theory built an ensemble model to win the Grand Prize in 2009 for $1 million.[76] Shortly after the prize was awarded, Netflix realized that viewers' ratings were not the best indicators of their viewing patterns ("everything is a recommendation") and they changed their recommendation engine accordingly.[77] In 2010 The Wall Street Journal wrote about the firm Rebellion Research and their use of machine learning to predict the financial crisis.[78] In 2012, co-founder of Sun Microsystems, Vinod Khosla, predicted that 80% of medical doctors' jobs would be lost in the next two decades to automated machine learning medical diagnostic software.[79] In 2014, it was reported that a machine learning algorithm had been applied in the field of art history to study fine art paintings and that it may have revealed previously unrecognized influences among artists.[80] In 2019 Springer Nature published the first research book created using machine learning.[81] Limitations Although machine learning has been transformative in some fields, machine-learning programs often fail to deliver expected results.[82][83][84] Reasons for this are numerous: lack of (suitable) data, lack of access to the data, data bias, privacy problems, badly chosen tasks and algorithms, wrong tools and people, lack of resources, and evaluation problems.[85] In 2018, a self-driving car from Uber failed to detect a pedestrian, who was killed after a collision.[86] Attempts to use machine learning in healthcare with the IBM Watson system failed to deliver even after years of time and billions of dollars invested.[87][88] Bias Main article: Algorithmic bias Machine learning approaches in particular can suffer from different data biases. A machine learning system trained on current customers only may not be able to predict the needs of new customer groups that are not represented in the training data. When trained on man-made data, machine learning is likely to pick up the same constitutional and unconscious biases already present in society.[89] Language models learned from data have been shown to contain human-like biases.[90][91] Machine learning systems used for criminal risk assessment have been found to be biased against black people.[92][93] In 2015, Google photos would often tag black people as gorillas,[94] and in 2018 this still was not well resolved, but Google reportedly was still using the workaround to remove all gorillas from the training data, and thus was not able to recognize real gorillas at all.[95] Similar issues with recognizing non-white people have been found in many other systems.[96] In 2016, Microsoft tested a chatbot that learned from Twitter, and it quickly picked up racist and sexist language.[97] Because of such challenges, the effective use of machine learning may take longer to be adopted in other domains.[98] Concern for fairness in machine learning, that is, reducing bias in machine learning and propelling its use for human good is increasingly expressed by artificial intelligence scientists, including Fei-Fei Li, who reminds engineers that "There’s nothing artificial about AI...It’s inspired by people, it’s created by people, and—most importantly—it impacts people. It is a powerful tool we are only just beginning to understand, and that is a profound responsibility.”[99] Model assessments Classification of machine learning models can be validated by accuracy estimation techniques like the holdout method, which splits the data in a training and test set (conventionally 2/3 training set and 1/3 test set designation) and evaluates the performance of the training model on the test set. In comparison, the K-fold-cross-validation method randomly partitions the data into K subsets and then K experiments are performed each respectively considering 1 subset for evaluation and the remaining K-1 subsets for training the model. In addition to the holdout and cross-validation methods, bootstrap, which samples n instances with replacement from the dataset, can be used to assess model accuracy.[100] In addition to overall accuracy, investigators frequently report sensitivity and specificity meaning True Positive Rate (TPR) and True Negative Rate (TNR) respectively. Similarly, investigators sometimes report the false positive rate (FPR) as well as the false negative rate (FNR). However, these rates are ratios that fail to reveal their numerators and denominators. The total operating characteristic (TOC) is an effective method to express a model's diagnostic ability. TOC shows the numerators and denominators of the previously mentioned rates, thus TOC provides more information than the commonly used receiver operating characteristic (ROC) and ROC's associated area under the curve (AUC).[101] Ethics Machine learning poses a host of ethical questions. Systems which are trained on datasets collected with biases may exhibit these biases upon use (algorithmic bias), thus digitizing cultural prejudices.[102] For example, using job hiring data from a firm with racist hiring policies may lead to a machine learning system duplicating the bias by scoring job applicants against similarity to previous successful applicants.[103][104] Responsible collection of data and documentation of algorithmic rules used by a system thus is a critical part of machine learning. Because human languages contain biases, machines trained on language corpora will necessarily also learn these biases.[105][106] Other forms of ethical challenges, not related to personal biases, are more seen in health care. There are concerns among health care professionals that these systems might not be designed in the public's interest but as income-generating machines. This is especially true in the United States where there is a long-standing ethical dilemma of improving health care, but also increasing profits. For example, the algorithms could be designed to provide patients with unnecessary tests or medication in which the algorithm's proprietary owners hold stakes. There is huge potential for machine learning in health care to provide professionals a great tool to diagnose, medicate, and even plan recovery paths for patients, but this will not happen until the personal biases mentioned previously, and these "greed" biases are addressed.[107] Hardware Since the 2010s, advances in both machine learning algorithms and computer hardware have led to more efficient methods for training deep neural networks (a particular narrow subdomain of machine learning) that contain many layers of non-linear hidden units.[108] By 2019, graphic processing units (GPUs), often with AI-specific enhancements, had displaced CPUs as the dominant method of training large-scale commercial cloud AI.[109] OpenAI estimated the hardware compute used in the largest deep learning projects from AlexNet (2012) to AlphaZero (2017), and found a 300,000-fold increase in the amount of compute required, with a doubling-time trendline of 3.4 months.[110][111] Software Software suites containing a variety of machine learning algorithms include the following: Free and open-source so
auton1 / LDhatEstimate recombination rates from population genetic data
transmart / TransmartApptranSMART is a knowledge management platform that enables scientists to develop and refine research hypotheses by investigating correlations between genetic and phenotypic data, and assessing their analytical results in the context of published literature and other work.
epiviz / EpivizEpiViz is a scientific information visualization tool for genetic and epigenetic data, used to aid in the exploration and understanding of correlations between various genome features.
gtonkinhill / FastbapsA fast approximation to a Dirichlet Process Mixture model (DPM) for clustering genetic data
OATML / EVEOfficial repository for the paper "Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning". Joint collaboration between the Marks lab and the OATML group.
lczech / GenesisA library for working with phylogenetic and population genetic data.
tskit-dev / TsinferInfer a tree sequence from genetic variation data.
