Publications related to Genetic epidemiology

The dynamic genetic determinants of increased transcriptional divergence in spermatids

Cis-genetic effects are key determinants of transcriptional divergence in discrete tissues and cell types. However, how cis- and trans-effects act across continuous trajectories of cellular differentiation in vivo is poorly understood. Here, we quantify al ...

Nature Portfolio2024

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

Xiaoxu Li

Long-term consumption of lipid-rich foods can contribute to common metabolic diseases and systemic low-grade inflammation. However, dietary responses and the development of non-communicable diseases are shaped by genetic factors and gene-by-environment int ...

EPFL2023

Predicting type 2 diabetes risk before and after solid organ transplantation using polygenic scores in a Danish cohort

Jacques Fellay, Christian Axel Wandall Thorball

Type 2 diabetes mellitus (T2DM) can be multifactorial where both genetics and environmental factors play a role. We aimed to investigate the use of polygenic risk scores (PRS) in the prediction of pre-transplant T2DM and post-transplant diabetes mellitus ( ...

Frontiers Media Sa2023

Towards mouse genetic-specific RNA-sequencing read mapping

Maxime Jan, Ioannis Xenarios

Genetic variations affect behavior and cause disease but understanding how these variants drive complex traits is still an open question. A common approach is to link the genetic variants to intermediate molecular phenotypes such as the transcriptome using ...

2022

A Phylogeny-aware GWAS Framework to Correct for Heritable Pathogen Effects on Infectious Disease Traits

Jacques Fellay, Christian Axel Wandall Thorball

Infectious diseases are particularly challenging for genome-wide association studies (GWAS) because genetic effects from two organisms (pathogen and host) can influence a trait. Traditional GWAS assume individual samples are independent observations. Howev ...

OXFORD UNIV PRESS2022

The interplay between human genetic variation, chronic inflammation and persistent infection: relevance for cardiovascular morbidity

Flavia Aurelia Shoko Hodel

Contemporary genomic approaches allow us to seek answers to biological questions that were previously out of reach. Genome-wide association studies (GWAS) have identified numerous genetic polymorphisms associated with human diseases, providing new insight ...

EPFL2022

Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset

Christopher Clark

Alzheimer's disease (AD) is the most frequent neurodegenerative disease with an increasing prevalence in industrialized, aging populations. AD susceptibility has an established genetic basis which has been the focus of a large number of genome-wide associa ...

FRONTIERS MEDIA SA2022

The population genetics of crypsis in vertebrates: recent insights from mice, hares, and lizards

Jeffrey David Jensen, Kristen Kay Irwin, Susanne Petra Pfeifer, Stefan Jean Laurent

By combining well-established population genetic theory with high-throughput sequencing data from natural populations, major strides have recently been made in understanding how, why, and when vertebrate populations evolve crypsis. Here, we focus on backgr ...

NATURE PUBLISHING GROUP2020

Chromatin three-dimensional interactions mediate genetic effects on gene expression

David Hacker, Giovanna Ambrosini, Philipp Bucher, Sanjeev Kumar

Studying the genetic basis of gene expression and chromatin organization is key to characterizing the effect of genetic variability on the function and structure of the human genome. Here we unravel how genetic variation perturbs gene regulation using a da ...

American Association for the Advancement of Science2019

Large-scale variational inference for Bayesian joint regression modelling of high-dimensional genetic data

Hélène Ruffieux

Genetic association studies have become increasingly important in understanding the molecular bases of complex human traits. The specific analysis of intermediate molecular traits, via quantitative trait locus (QTL) studies, has recently received much atte ...

EPFL2019

Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism

Patrick Descombes, Hélène Ruffieux, Sylviane Métairon, Jörg Hager, Nele Gheldof

Hundreds of genetic variants have been associated with Body Mass Index (BMI) through genome-wide association studies (GWAS) using observational cohorts. However, the genetic contribution to efficient weight loss in response to dietary intervention remains ...

Springer2019

A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individuals

Jacques Fellay, Christian Hammer, Flavia Aurelia Shoko Hodel, Petar Scepanovic

Background The gut microbiome is an important determinant of human health. Its composition has been shown to be influenced by multiple environmental factors and likely by host genetic variation. In the framework of the Milieu Interieur Consortium, a total ...

2019

Genetic determinants of healthy human immune variance: from humoral response to microbiome diversity

Petar Scepanovic

Identifying the drivers of the observed interindividual variability of the human immune system is crucial to our understanding of infectious and immune-mediated diseases. The contribution of genetic and non-genetic factors to immunological differences betw ...

EPFL2018

The phenotypic impact of naturally occurring genetic and molecular mitochondrial variation in a Drosophila Genetic Reference Population

Roel Paulus Josephus Bevers

Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...

EPFL2018

Privacy-Enhancing Technologies for Medical and Genomic Data: From Theory to Practice

Jean Louis Raisaro

The impressive technological advances in genomic analysis and the significant drop in the cost of genome sequencing are paving the way to a variety of revolutionary applications in modern healthcare. In particular, the increasing understanding of the human ...

EPFL2018

Efficient inference for genetic association studies with multiple outcomes

Anthony Christopher Davison, Jörg Hager, Hélène Ruffieux

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single clinical outcome on ma ...

Oxford University Press2017

High performance computation of landscape genomic models including local indicators of spatial association

Stéphane Joost, Sylvie Stucki, Pierre Taberlet, Solange Catherine Gaillard

With the increasing availability of both molecular and topo-climatic data, the main challenges facing landscape genomics — i.e. the combination of landscape ecology with population genomics — include processing large numbers of models and distinguishing be ...

Wiley-Blackwell2017

Risk prediction of developing venous thrombosis in combined oral contraceptive users

Emmanuelle Logette, Valérie Buchillier

Background Venous thromboembolism (VTE) is a complex multifactorial disease influenced by genetic and environmental risk factors. An example for the latter is the regular use of combined oral contraceptives (CC), which increases the risk to develop VTE by ...

2017

Role of APOBEC3F Gene Variation in HIV-1 Disease Progression and Pneumocystis Pneumonia

Jacques Fellay, Istvan Bartha, Christian Axel Wandall Thorball

Human APOBEC3 cytidine deaminases are intrinsic resistance factors to HIV-1. However, HIV-1 encodes a viral infectivity factor (Vif) that degrades APOBEC3 proteins. In vitro APO-BEC3F (A3F) anti-HIV-1 activity is weaker than A3G but is partially resistant ...

Public Library of Science2016

The effect of the functional interaction between PGC-1α and Parkin on mitochondrial quality control in Parkinson's disease

Lu Zheng

Although several genetic factors have been directly associated to Parkinsonâ s disease (PD), no single pathway has emerged to explain the etiology of this neurodegenerative disease. To further understand the cause of Parkinsonâ s disease (PD), it is ther ...

EPFL2016