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High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

In the past decade, advances in genome sequencing have allowed researchers to uncover the history of hybridization in diverse groups of species, including our own. Although the field has made impressive progress in documenting the extent of…

Populations and Evolution · Quantitative Biology 2021-03-23 Benjamin M Moran , Cheyenne Payne , Quinn Langdon , Daniel L Powell , Yaniv Brandvain , Molly Schumer

A major challenge in biomedical data science is to identify the causal genes underlying complex genetic diseases. Despite the massive influx of genome sequencing data, identifying disease-relevant genes remains difficult as individuals with…

Genomics · Quantitative Biology 2020-01-20 Borislav H. Hristov , Bernard Chazelle , Mona Singh

Joint models for longitudinal and time-to-event data are commonly used in longitudinal studies to forecast disease trajectories over time. While there are many advantages to joint modeling, the standard forms suffer from limitations that…

Machine Learning · Statistics 2019-09-09 Bryan Lim , Mihaela van der Schaar

Identifying disease genes from human genome is an important and fundamental problem in biomedical research. Despite many publications of machine learning methods applied to discover new disease genes, it still remains a challenge because of…

Quantitative Methods · Quantitative Biology 2017-05-23 Peng Yang

Some species exhibit very high levels of DNA sequence variability; there is also evidence for the existence of heritable epigenetic variants that experience state changes at a much higher rate than sequence variants. In both cases, the…

Populations and Evolution · Quantitative Biology 2016-01-13 Brian Charlesworth , Kavita Jain

Most genes are part of larger families of evolutionary related genes. The history of gene families typically involves duplications and losses of genes as well as horizontal transfers into other organisms. The reconstruction of detailed gene…

Populations and Evolution · Quantitative Biology 2023-04-25 Marc Hellmuth , Peter F. Stadler

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

We examine the feasibility of predicting and subsequently managing the future evolution of a Complex Adaptive System. Our archetypal system mimics a competitive population of mechanical, biological, informational or human objects. We show…

Disordered Systems and Neural Networks · Physics 2007-05-23 David M. D. Smith , Neil F. Johnson

It is widely acknowledged that there is a diversity problem in genomics stemming from the vast underrepresentation of non-European genetic ancestry populations. While many challenges exist to address this gap, a major complicating factor is…

Other Quantitative Biology · Quantitative Biology 2022-05-03 Daphne O. Martschenko , Hannah Wand , Jennifer L. Young , Genevieve L. Wojcik

In this article, we review the different models and methods to understand and estimate correlated evolution within the same genome, individual or species. We describe correlated evolution among traits, among genetic components and finally…

Populations and Evolution · Quantitative Biology 2021-03-23 Guillaume Achaz , Julien Dutheil

Genomic phenotypes, such as DNA methylation and chromatin accessibility, can be used to characterize the transcriptional and regulatory activity of DNA within a cell. Recent technological advances have made it possible to measure such…

Methodology · Statistics 2016-11-15 Jean Morrison , Noah Simon , Daniela Witten

Species' interactions are shaped by their traits. Thus, we expect traits -- in particular, trait (dis)similarity -- to play a central role in determining whether a particular set of species coexists. Traits are, in turn, the outcome of an…

Populations and Evolution · Quantitative Biology 2025-03-19 Carlos A. Servan , Jose A. Capitan , Zachary R. Miller , Stefano Allesina

Genetic information is encoded in a linear sequence of nucleotides, represented by letters ranging from thousands to billions. Mutations refer to changes in the DNA or RNA nucleotide sequence. Thus, mutation detection is vital in all areas…

Deep learning has become a powerful tool in computational biology, revolutionising the analysis and interpretation of biological data over time. In our article review, we delve into various aspects of deep learning in computational biology.…

Sexual selection theory models evolution of sexual signals and preferences using simple life histories. However, life-history models predict that males benefit from increasing sexual investment approaching old age, producing age-dependent…

Populations and Evolution · Quantitative Biology 2013-12-16 Joel James Adamson

Our genomes influence nearly every aspect of human biology from molecular and cellular functions to phenotypes in health and disease. Human genetics studies have now associated hundreds of thousands of differences in our DNA sequence…

Other Quantitative Biology · Quantitative Biology 2023-07-27 IGVF Consortium

An important task of human genetics studies is to accurately predict disease risks in individuals based on genetic markers, which allows for identifying individuals at high disease risks, and facilitating their disease treatment and…

Genomics · Quantitative Biology 2013-08-20 Cong Li , Can Yang , Joel Gelernter , Hongyu Zhao

Novel technologies in genomics allow creating data in exascale dimension with relatively minor effort of human and laboratory and thus monetary resources compared to capabilities only a decade ago. While the availability of this data…

Distributed, Parallel, and Cluster Computing · Computer Science 2015-11-10 Sandra Gesing , Thomas Richard Connor , Ian Taylor

Phylogenetics is the study of the evolutionary relationships between organisms. One of the main challenges in the field is to take biological data for a group of organisms and to infer an evolutionary tree, a graph that represents these…

Populations and Evolution · Quantitative Biology 2019-06-05 Elizabeth Gross , Colby Long , Joseph Rusinko