Publications associées à A platform for experimental precision medicine: The extended BXD mouse family

Meeting our Makers: Uncovering the cis-regulatory activity of transposable elements using statistical learning

The adaptation of organisms to their environment depends on the innovative potential inherent to genetic variation. In complex organisms such as mammals, processes like development and immunity require tight gene regulation. Complex forms emerge more often ...

EPFL2024

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

Deep Learning Generalization with Limited and Noisy Labels

Mahsa Forouzesh

Deep neural networks have become ubiquitous in today's technological landscape, finding their way in a vast array of applications. Deep supervised learning, which relies on large labeled datasets, has been particularly successful in areas such as image cla ...

EPFL2023

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

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

Genomic consequences of colonisation, migration and genetic drift in barn owl insular populations of the eastern Mediterranean

Nicolas Jean Philippe Guex, Eléonore Lavanchy

The study of insular populations was key in the development of evolutionary theory. The successful colonisation of an island depends on the geographic context, and specific characteristics of the organism and the island, but also on stochastic processes. A ...

2022

Regulation of sedimentation rate shapes the evolution of multicellularity in a close unicellular relative of animals

Omaya Pierre Dudin

Significant increases in sedimentation rate accompany the evolution of multicellularity. These increases should lead to rapid changes in ecological distribution, thereby affecting the costs and benefits of multicellularity and its likelihood to evolve. How ...

PUBLIC LIBRARY SCIENCE2022

Removing Algorithmic Discrimination (With Minimal Individual Error)

Rachid Guerraoui, El Mahdi El Mhamdi, Le Nguyen Hoang, Alexandre David Olivier Maurer

We address for the first time the problem of correcting group discriminations within a score function, while minimizing the individual error. Each group is described by a probability density function on the set of profiles. We first solve the problem analy ...

2022

Mixed-precision explicit stabilized Runge-Kutta methods for single- and multi-scale differential equations

Giacomo Rosilho De Souza, Matteo Croci

Mixed-precision algorithms combine low-and high-precision computations in order to benefit from the performance gains of reduced-precision without sacrificing accuracy. In this work, we design mixed-precision Runge-Kutta-Chebyshev (RKC) methods, where high ...

ACADEMIC PRESS INC ELSEVIER SCIENCE2022

The SNP-Based Profiling of Montecristo Feral Goat Populations Reveals a History of Isolation, Bottlenecks, and the Effects of Management

Elia Vajana

The Montecristo wild goat is an endangered feral population that has been on the homonymous island in the Tuscan Archipelago since ancient times. The origins of Montecristo goats are still debated, with authors dating their introduction either back to Neol ...

MDPI2022

The genetic architecture of complex human traits at the dawn of genomic medicine

Olivier Noël Marie Naret

The focus of the work presented in this thesis is the exploration of the genetic architecture of complex human traits - at the dawn of genomic medicine. The underlying mechanisms explaining the enormously polygenic nature of most human complex traits are ...

EPFL2021

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Jacques Fellay, John Wilson, Yang Luo, Xinyi Li

A high-resolution reference panel based on whole-genome sequencing data enables accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response. ...

NATURE PORTFOLIO2021

Stabilization of cultural innovations depends on population density: Testing an epidemiological model of cultural evolution against a global dataset of rock art sites and climate-based estimates of ancient population densities

John Richard Walker, Francesco Casalegno, Taylor Howard Newton

Demographic models of human cultural evolution have high explanatory potential but weak empirical support. Here we use a global dataset of rock art sites and climate and genetics-based estimates of ancient population densities to test a new model based on ...

2021

Validating model-based data interpretation methods for quantification of reserve capacity

Ian Smith, Sai Ganesh Sarvotham Pai

Optimal performance of civil infrastructure is an important aspect of liveable cities. A judicious combination of physics-based models with monitoring data in a validated methodology that accounts for uncertainties is explored in this paper. This methodolo ...

2021

The Imitation Game: Algorithm Selection by Exploiting Black-Box Recommenders

Rachid Guerraoui, Georgios Damaskinos

Cross-validation is commonly used to select the recommendation algorithms that will generalize best on yet unknown data. Yet, in many situations the available dataset used for cross-validation is scarce and the selected algorithm might not be the best suit ...

Springer2021

HIV-1 and human genetic variation

Jacques Fellay

Over the past four decades, research on the natural history of HIV infection has described how HIV wreaks havoc on human immunity and causes AIDS. HIV host genomic research, which aims to understand how human genetic variation affects our response to HIV i ...

NATURE RESEARCH2021

A Machine-Generated View of the Role of Blood Glucose Levels in the Severity of COVID-19

Henry Markram, Daniel Keller, Emmanuelle Logette, Francesco Casalegno, Jay Coggan, Cyrille Pierre Henri Favreau, Mohameth François Sy, Samuel Claude Kerrien, Anna-Kristin Kaufmann, Pierre-Alexandre Fonta, Enrico Scantamburlo, Marine Laure Bertschy

SARS-CoV-2 started spreading toward the end of 2019 causing COVID-19, a disease that reached pandemic proportions among the human population within months. The reasons for the spectrum of differences in the severity of the disease across the population, an ...

FRONTIERS MEDIA SA2021

L-mode plasmas analyses and current ramp-up predictions for a JT-60SA hybrid scenario

Timothy Goodman, Javier García Hernández, Matteo Vallar

In this work, L-mode analyses are performed in order to assess a modeling framework for the prediction of electron cyclotron resonant heating (ECRH) -assisted current ramp-up phases for JT-60SA tokamak hybrid scenario #4-2. We compare two turbulence transp ...

IOP PUBLISHING LTD2021

Ten seconds of my nights: Exploring methods to measure brightness, loudness and attendance and their associations with alcohol use from video clips

Daniel Gatica-Perez, Skanda Muralidhar, Lakmal Buddika Meegahapola

Introduction Most evidence on associations between alcohol use behaviors and the characteristics of its social and physical context is based on self-reports from study participants and, thus, only account for their subjective impressions of the situation. ...

2021