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Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model…

Quantitative Methods · Quantitative Biology 2015-05-26 Robert Hoehndorf , Paul N Schofield , Georgios V Gkoutos

This study presents the approach to analyzing the evolution of an arbitrary complex system whose behavior is characterized by a set of different time-dependent factors. The key requirement for these factors is only that they must contain an…

Data Analysis, Statistics and Probability · Physics 2020-12-01 Anatolii V. Mokshin , Vladimir V. Mokshin , Diana A. Mirziyarova

Understanding how genotypes map onto phenotypes, fitness, and eventually organisms is arguably the next major missing piece in a fully predictive theory of evolution. We refer to this generally as the problem of the genotype-phenotype map.…

We propose a novel machine learning approach for inferring causal variables of a target variable from observations. Our focus is on directly inferring a set of causal factors without requiring full causal graph reconstruction, which is…

Machine Learning · Computer Science 2025-10-01 Jang-Hyun Kim , Claudia Skok Gibbs , Sangdoo Yun , Hyun Oh Song , Kyunghyun Cho

Biological phenotypes are products of complex evolutionary processes in which selective forces influence multiple biological trait measurements in unknown ways. Phylogenetic factor analysis disentangles these relationships across the…

Discovering a unique causal structure is difficult due to both inherent identifiability issues, and the consequences of finite data. As such, uncertainty over causal structures, such as those obtained from a Bayesian posterior, are often…

Machine Learning · Computer Science 2025-03-06 Anish Dhir , Matthew Ashman , James Requeima , Mark van der Wilk

When we use machine learning for public policy, we find that many useful variables are associated with others on which it would be ethically problematic to base decisions. This problem becomes particularly acute in the Big Data era, when…

Information Theory · Computer Science 2017-03-21 Simon DeDeo

Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

Applications · Statistics 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

Quantitative Methods · Quantitative Biology 2015-06-30 Min Xu

It is tempting to think that machines are less prone to unfairness and prejudice. However, machine learning approaches compute their outputs based on data. While biases can enter at any stage of the development pipeline, models are…

Computer Vision and Pattern Recognition · Computer Science 2020-12-07 Patrick Esser , Robin Rombach , Björn Ommer

Causality is receiving increasing attention by the artificial intelligence and machine learning communities. This paper gives an example of modelling a recommender system problem using causal graphs. Specifically, we approached the causal…

Information Retrieval · Computer Science 2024-09-17 Emanuele Cavenaghi , Fabio Stella , Markus Zanker

The aim in many sciences is to understand the mechanisms that underlie the observed distribution of variables, starting from a set of initial hypotheses. Causal discovery allows us to infer mechanisms as sets of cause and effect…

Machine Learning · Computer Science 2025-03-05 Ashka Shah , Adela DePavia , Nathaniel Hudson , Ian Foster , Rick Stevens

A principled approach to understand network structures is to formulate generative models. Given a collection of models, however, an outstanding key task is to determine which one provides a more accurate description of the network at hand,…

Machine Learning · Statistics 2018-06-29 Toni Vallès-Català , Tiago P. Peixoto , Roger Guimerà , Marta Sales-Pardo

The cause-to-effect analysis can help us decompose all the likely causes of a problem, such as an undesirable business situation or unintended harm to the individual(s). This implies that we can identify how the problems are inherited, rank…

Machine Learning · Computer Science 2023-10-20 Moses Openja , Gabriel Laberge , Foutse Khomh

Prevalent in biomedical applications (e.g., human phenotype research), multimodal datasets can provide valuable insights into the underlying physiological mechanisms. However, current machine learning (ML) models designed to analyze these…

We consider a problem of data integration. Consider determining which genes affect a disease. The genes, which we call predictor objects, can be measured in different experiments on the same individual. We address the question of finding…

Machine Learning · Statistics 2016-10-04 Xin Gao , Raymond J. Carroll

The discovery of discriminatory bias in human or automated decision making is a task of increasing importance and difficulty, exacerbated by the pervasive use of machine learning and data mining. Currently, discrimination discovery largely…

Computers and Society · Computer Science 2019-11-05 Bilal Qureshi , Faisal Kamiran , Asim Karim , Salvatore Ruggieri , Dino Pedreschi

In machine learning, exploring data correlations to predict outcomes is a fundamental task. Recognizing causal relationships embedded within data is pivotal for a comprehensive understanding of system dynamics, the significance of which is…

Machine Learning · Computer Science 2023-11-28 Simi Job , Xiaohui Tao , Taotao Cai , Haoran Xie , Lin Li , Jianming Yong , Qing Li

Evolution has fascinated quantitative and physical scientists for decades: how can the random process of mutation, recombination, and duplication of genetic information generate the diversity of life? What determines the rate of evolution?…

Populations and Evolution · Quantitative Biology 2018-04-23 Richard A. Neher , Aleksandra M. Walczak

Understanding the molecular processes that drive cellular life is a fundamental question in biological research. Ambitious programs have gathered a number of molecular datasets on large populations. To decipher the complex cellular…

Genomics · Quantitative Biology 2023-03-22 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Jean-Michel Arbona , Benjamin Audit , Pierre Borgnat