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Background: Mendelian randomization (MR) has been widely applied to causal inference in medical research. It uses genetic variants as instrumental variables (IVs) to investigate putative causal relationship between an exposure and an…

Methodology · Statistics 2020-11-04 Linyi Zou , Hui Guo , Carlo Berzuini

Motivation: Mendelian randomization (MR) infers causal relationships between exposures and outcomes using genetic variants as instrumental variables. Typically, MR considers only a pair of exposure and outcome at a time, limiting its…

Applications · Statistics 2025-10-14 Bitan Sarkar , Yang Ni

Identifying the genes and mutations that drive the emergence of tumors is a major step to improve understanding of cancer and identify new directions for disease diagnosis and treatment. Despite the large volume of genomics data, the…

Machine Learning · Computer Science 2022-04-05 Renan Andrades , Mariana Recamonde-Mendoza

Two-sample summary-data Mendelian randomization (MR) has become a popular research design to estimate the causal effect of risk exposures. With the sample size of GWAS continuing to increase, it is now possible to utilize genetic…

Applications · Statistics 2018-11-20 Qingyuan Zhao , Yang Chen , Jingshu Wang , Dylan S. Small

Collecting genomics data across multiple heterogeneous populations (e.g., across different cancer types) has the potential to improve our understanding of disease. Despite sequencing advances, though, resources often remain a constraint…

Methodology · Statistics 2024-03-05 Yunyi Shen , Lorenzo Masoero , Joshua G. Schraiber , Tamara Broderick

When genetic variants in a gene cluster are associated with a disease outcome, the causal pathway from the variants to the outcome can be difficult to disentangle. For example, the chemokine receptor gene cluster contains genetic variants…

Methodology · Statistics 2021-10-05 Fatima Batool , Ashish Patel , Dipender Gill , Stephen Burgess

Mendelian randomization (MR) is a method of exploiting genetic variation to unbiasedly estimate a causal effect in presence of unmeasured confounding. MR is being widely used in epidemiology and other related areas of population science. In…

Applications · Statistics 2019-01-03 Qingyuan Zhao , Jingshu Wang , Gibran Hemani , Jack Bowden , Dylan S. Small

The emergence and development of cancer is a consequence of the accumulation over time of genomic mutations involving a specific set of genes, which provides the cancer clones with a functional selective advantage. In this work, we model…

Machine Learning · Computer Science 2017-03-10 Daniele Ramazzotti , Marco S. Nobile , Paolo Cazzaniga , Giancarlo Mauri , Marco Antoniotti

Predictive modeling of the evolutionary dynamics of cancer is a challenge issue in computational cancer biology. In this paper, we propose a general mathematical model framework for the evolutionary dynamics of cancer with plasticity and…

Cell Behavior · Quantitative Biology 2020-01-10 Jinzhi Lei

Cancer is viewed as a multistep process whereby a normal cell is transformed into a cancer cell through the acquisition of mutations. We reduce the complexities of cancer progression to a simple set of underlying rules that govern the…

Cell Behavior · Quantitative Biology 2007-05-23 Sabrina L. Spencer , Matthew J. Berryman , Jose A. Garcia , Derek Abbott

The identification of cancer genes is a critical yet challenging problem in cancer genomics research. Existing computational methods, including deep graph neural networks, fail to exploit the multilayered gene-gene interactions or provide…

Machine Learning · Computer Science 2023-05-04 Michail Chatzianastasis , Michalis Vazirgiannis , Zijun Zhang

Complex data features, such as unmodelled censored event times and variables with time-dependent effects, are common in cancer recurrence studies and pose challenges for Bayesian survival modelling. Current methodologies for predictive…

Methodology · Statistics 2026-01-12 Saku Suorsa , Aki Vehtari

Many diseases and traits involve a complex interplay between genes and environment, generating significant interest in studying gene-environment interaction through observational data. However, for lifestyle and environmental risk factors,…

Methodology · Statistics 2023-09-22 Malka Gorfine , Conghui Qu , Ulrike Peters , Li Hsu

Graphical models are powerful tools to investigate complex dependency structures in high-throughput datasets. However, most existing graphical models make one of the two canonical assumptions: (i) a homogeneous graph with a common network…

Methodology · Statistics 2023-10-31 Tsung-Hung Yao , Yang Ni , Anindya Bhadra , Jian Kang , Veerabhadran Baladandayuthapani

Background: Radiotherapy outcomes are usually predicted using the Linear Quadratic model. However, this model does not integrate complex features of tumor growth, in particular cell cycle regulation. Methods: In this paper, we propose a…

Tissues and Organs · Quantitative Biology 2007-05-23 Benjamin Ribba , Thierry Colin , Santiago Schnell

Motivation: Gene selection has become a common task in most gene expression studies. The objective of such research is often to identify the smallest possible set of genes that can still achieve good predictive performance. The problem of…

With the increased affordability and availability of whole-genome sequencing, large-scale and high-throughput gene expression is widely used to characterize diseases, including cancers. However, establishing specificity in cancer diagnosis…

Machine Learning · Statistics 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan

Background Precise prediction of cancer types is vital for cancer diagnosis and therapy. Important cancer marker genes can be inferred through predictive model. Several studies have attempted to build machine learning models for this task…

Genomics · Quantitative Biology 2019-06-20 Milad Mostavi , Yu-Chiao Chiu , Yufei Huang , Yidong Chen

Rapid technological advances have allowed for molecular profiling across multiple omics domains from a single sample for clinical decision making in many diseases, especially cancer. As tumor development and progression are dynamic…

Methodology · Statistics 2022-02-11 Dongyan Yan , Subharup Guha

Mendelian randomization is the use of genetic variants to make causal inferences from observational data. The field is currently undergoing a revolution fuelled by increasing numbers of genetic variants demonstrated to be associated with…

Methodology · Statistics 2018-08-31 Stephen Burgess , Jack Bowden , Frank Dudbridge , Simon G Thompson