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Alzheimer's disease has an increasing prevalence in the population world-wide, yet current diagnostic methods based on recommended biomarkers are only available in specialized clinics. Due to these circumstances, Alzheimer's disease is…

Quantitative Methods · Quantitative Biology 2023-12-07 Sophia Krix , Ella Wilczynski , Neus Falgàs , Raquel Sánchez-Valle , Eti Yoles , Uri Nevo , Kuti Baruch , Holger Fröhlich

Mendelian randomization is an instrumental variable method that utilizes genetic information to investigate the causal effect of a modifiable exposure on an outcome. In most cases, the exposure changes over time. Understanding the…

Methodology · Statistics 2024-03-11 Haodong Tian , Ashish Patel , Stephen Burgess

Recent advances in experimental methods have enabled researchers to collect data on thousands of analytes simultaneously. This has led to correlational studies that associated molecular measurements with diseases such as Alzheimer's, Liver,…

Quantitative Methods · Quantitative Biology 2024-05-20 Divyagna Bavikadi , Ayushi Agarwal , Shashank Ganta , Yunro Chung , Lusheng Song , Ji Qiu , Paulo Shakarian

Background: Mendelian randomization (MR) is a useful approach to causal inference from observational studies when randomised controlled trials are not feasible. However, study heterogeneity of two association studies required in MR is often…

Methodology · Statistics 2021-12-16 Linyi Zou , Hui Guo , Carlo Berzuini

Many statistical machine approaches could ultimately highlight novel features of the etiology of complex diseases by analyzing multi-omics data. However, they are sensitive to some deviations in distribution when the observed samples are…

Machine Learning · Statistics 2022-01-14 Md Ashad Alam , Hui Shen , Hong-Wen Deng

Mendelian randomization (MR) is a statistical method exploiting genetic variants as instrumental variables to estimate the causal effect of modifiable risk factors on an outcome of interest. Despite wide uses of various popular two-sample…

Methodology · Statistics 2021-11-17 Anqi Wang , Zhonghua Liu

Recently developed technologies to generate single-cell genomic data have made a revolutionary impact in the field of biology. Multi-omics assays offer even greater opportunities to understand cellular states and biological processes.…

Genomics · Quantitative Biology 2022-01-19 Stefan Stanojevic , Yijun Li , Lana X. Garmire

Detecting predictive biomarkers from multi-omics data is important for precision medicine, to improve diagnostics of complex diseases and for better treatments. This needs substantial experimental efforts that are made difficult by the…

Quantitative Methods · Quantitative Biology 2021-06-08 Betül Güvenç Paltun , Samuel Kaski , Hiroshi Mamitsuka

Mendelian randomization (MR) has become a popular approach to study the effect of a modifiable exposure on an outcome by using genetic variants as instrumental variables. A challenge in MR is that each genetic variant explains a relatively…

Methodology · Statistics 2020-10-13 Ting Ye , Jun Shao , Hyunseung Kang

Causal inference deals with identifying which random variables "cause" or control other random variables. Recent advances on the topic of causal inference based on tools from statistical estimation and machine learning have resulted in…

Machine Learning · Statistics 2016-08-23 Matt J. Kusner , Yu Sun , Karthik Sridharan , Kilian Q. Weinberger

Many clinical questions involve estimating the effects of multiple treatments using observational data. When using longitudinal data, the interest is often in the effect of treatment strategies that involve sustaining treatment over time.…

Methodology · Statistics 2024-05-03 Emily Granger , Gwyneth Davies , Ruth H. Keogh

As the availability of omics data has increased in the last few years, more multi-omics data have been generated, that is, high-dimensional molecular data consisting of several types such as genomic, transcriptomic, or proteomic data, all…

Genomics · Quantitative Biology 2023-02-09 Roman Hornung , Frederik Ludwigs , Jonas Hagenberg , Anne-Laure Boulesteix

Identifying molecular signatures from complex disease patients with underlying symptomatic similarities is a significant challenge in the analysis of high dimensional multi-omics data. Topological data analysis (TDA) provides a way of…

Genomics · Quantitative Biology 2024-04-23 Davide Gurnari , Aldo Guzmán-Sáenz , Filippo Utro , Aritra Bose , Saugata Basu , Laxmi Parida

Multiple Myeloma (MM) is a blood cancer implying bone marrow involvement, renal damages and osteolytic lesions. The skeleton involvement of MM is at the core of the present paper, exploiting radiomics and artificial intelligence to identify…

Mendelian randomization (MR) uses genetic variants as instrumental variables to make causal claims. Standard MR approaches typically report a single population-averaged estimate, limiting their ability to explore effect heterogeneity or…

Methodology · Statistics 2025-07-16 Stephen Burgess , Benjamin A R Woolf , Amy M Mason

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…

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…

Machine learning is increasingly used to discover diagnostic and prognostic biomarkers from high-dimensional molecular data. However, a variety of factors related to experimental design may affect the ability to learn generalizable and…

In many studies of human diseases, multiple omic datasets are measured. Typically, these omic datasets are studied one by one with the disease, thus the relationship between omics are overlooked. Modeling the joint part of multiple omics…

Methodology · Statistics 2022-09-02 Zhujie Gu , Said el Bouhaddani , Jeanine Houwing-Duistermaat , Hae-Won Uh

Mendelian randomization uses genetic variants to make causal inferences about the effect of a risk factor on an outcome. With fine-mapped genetic data, there may be hundreds of genetic variants in a single gene region any of which could be…

Methodology · Statistics 2017-07-10 Stephen Burgess , Verena Zuber , Elsa Valdes-Marquez , Benjamin B Sun , Jemma C Hopewell