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Mathematical models are invaluable for understanding and predicting how biological systems behave, although their construction requires specifying mechanisms and relationships that are often not perfectly known. In the presence of multiple…

Inferring dependencies between complex biological traits while accounting for evolutionary relationships between specimens is of great scientific interest yet remains infeasible when trait and specimen counts grow large. The…

Inferring causal structures from experimentation is a central task in many domains. For example, in biology, recent advances allow us to obtain single-cell expression data under multiple interventions such as drugs or gene knockouts.…

Machine Learning · Computer Science 2023-02-24 Alexander Hägele , Jonas Rothfuss , Lars Lorch , Vignesh Ram Somnath , Bernhard Schölkopf , Andreas Krause

Increasingly complex applications involve large datasets in combination with non-linear and high dimensional mathematical models. In this context, statistical inference is a challenging issue that calls for pragmatic approaches that take…

Data Analysis, Statistics and Probability · Physics 2013-01-31 Andreas Raue , Clemens Kreutz , Fabian Joachim Theis , Jens Timmer

DNA sequence analysis is fundamental to life science research. The rapid development of next generation sequencing (NGS) technologies, and the richness and diversity of applications it makes feasible, have created an enormous gulf between…

Computational Engineering, Finance, and Science · Computer Science 2013-10-29 Shel Swenson , Yogesh Simmhan , Viktor Prasanna , Manish Parashar , Jason Riedy , David Bader , Richard Vuduc

Scientific investigations that incorporate next generation sequencing involve analyses of high-dimensional data where the need to organize, collate and interpret the outcomes are pressingly important. Currently, data can be collected at the…

Machine Learning · Statistics 2016-08-01 Stephen T Rush , Christine H Lee , Washington Mio , Peter T Kim

Approximate Bayesian computation is an established and popular method for likelihood-free inference with applications in many disciplines. The effectiveness of the method depends critically on the availability of well performing summary…

Machine Learning · Statistics 2018-05-23 Prashant Singh , Andreas Hellander

Shotgun proteomics is a high-throughput technology used to identify unknown proteins in a complex mixture. At the heart of this process is a prediction task, the spectrum identification problem, in which each fragmentation spectrum produced…

Computational Engineering, Finance, and Science · Computer Science 2012-10-19 Ajit P. Singh , John Halloran , Jeff A. Bilmes , Katrin Kirchoff , William S. Noble

Searching for local sequence patterns is one of the basic tasks in bioinformatics. Sequence patterns might have structural, functional or some other relevance, and numerous methods have been developed to detect and analyze them. These…

Quantitative Methods · Quantitative Biology 2018-08-01 Braslav Rabar , Strahil Ristov , Maja Zagorščak , Martin Rosenzweig , Pavle Goldstein

Computational methods for discovering patterns of local correlations in sequences are important in computational biology. Here we show how to determine the optimal partitioning of aligned sequences into non-overlapping segments such that…

Computational Engineering, Finance, and Science · Computer Science 2012-06-26 Joseph Bockhorst , Nebojsa Jojic

Bacteria pose unique challenges for genome-wide association studies (GWAS) because of strong structuring into distinct strains and substantial linkage disequilibrium across the genome. While methods developed for human studies can correct…

Anomaly detection methods can be very useful in identifying interesting or concerning events. In this work, we develop and examine new probabilistic anomaly detection methods that let us evaluate management decisions for a specific patient…

Machine Learning · Computer Science 2026-05-07 Milos Hauskrecht , Michal Valko , Branislav Kveton , Shyam Visweswaran , Gregory Cooper

Because of the decreasing cost and high digital resolution, next-generation sequencing (NGS) is expected to replace the traditional hybridization-based microarray technology. For genetics study, the first-step analysis of NGS data is often…

Applications · Statistics 2014-01-13 Zhigen Zhao , Wei Wang , Zhi Wei

Modern cancer genomics datasets involve widely varying sizes and scales, measurement variables, and correlation structures. A fundamental analytical goal in these high-throughput studies is the development of general statistical techniques…

Methodology · Statistics 2022-04-12 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

Source separation problems are ubiquitous in the physical sciences; any situation where signals are superimposed calls for source separation to estimate the original signals. In this tutorial I will discuss the Bayesian approach to the…

Machine Learning · Statistics 2013-11-14 Kevin H. Knuth

Applying machine learning to biological sequences - DNA, RNA and protein - has enormous potential to advance human health, environmental sustainability, and fundamental biological understanding. However, many existing machine learning…

Machine Learning · Statistics 2023-04-11 Alan Nawzad Amin , Eli Nathan Weinstein , Debora Susan Marks

The direct detection of haplotypes from short-read DNA sequencing data requires changes to existing small-variant detection methods. Here, we develop a Bayesian statistical framework which is capable of modeling multiallelic loci in sets of…

Genomics · Quantitative Biology 2012-07-24 Erik Garrison , Gabor Marth

We target the problem of accuracy and robustness in causal inference from finite data sets. Some state-of-the-art algorithms produce clear output complete with solid theoretical guarantees but are susceptible to propagating erroneous…

Artificial Intelligence · Computer Science 2012-10-19 Tom Claassen , Tom Heskes

Genetic data obtained on population samples convey information about their evolutionary history. Inference methods can extract this information (at least partially) but they require sophisticated statistical techniques that have been made…

The human-associated microbiome is closely tied to human health and is of substantial clinical interest. Metagenomics-based tools are emerging for clinical diagnostics, tracking the spread of diseases, and surveillance of potential…