Publications associées à Collection, access and use of human genetic information for precision medicines: Risk governance considerations

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

Neural ADMIXTURE for rapid genomic clustering

Albert Dominguez Mantes

Characterizing the genetic structure of large cohorts has become increasingly important as genetic studies extend to massive, increasingly diverse biobanks. Popular methods decompose individual genomes into fractional cluster assignments with each cluster ...

SPRINGERNATURE2023

Health data privacy through homomorphic encryption and distributed ledger computing: an ethical-legal qualitative expert assessment study

Marcello Ienca

Background: Increasingly, hospitals and research institutes are developing technical solutions for sharing patient data in a privacy preserving manner. Two of these technical solutions are homomorphic encryption and distributed ledger technology. Homomorph ...

BMC2022

Archetypal Analysis for population genetics

Albert Dominguez Mantes

The estimation of genetic clusters using genomic data has application from genome-wide association studies (GWAS) to demographic history to polygenic risk scores (PRS) and is expected to play an important role in the analyses of increasingly diverse, large ...

PUBLIC LIBRARY SCIENCE2022

Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients

Olaf Blanke, Oliver Alan Kannape, Mariia Kaliuzhna, Roy Salomon, Maude Schneider, Henrique Galvan Debarba, Nathan Quentin Faivre

Schizophrenia is a chronic and disabling mental illness characterized by a disordered sense of self. Current theories suggest that deficiencies in the sense of control over one’s actions (Sense of Agency, SoA) may underlie some of the symptoms of schizophr ...

2022

Variability of Primary Sjogren's Syndrome Is Driven by Interferon alpha and Interferon alpha Blood Levels Are Associated With the Class II HLA-DQ Locus

Nicolas Meyer, Jacques Fellay, Christian Axel Wandall Thorball

Objective Primary Sjogren's syndrome (SS) is the second most frequent systemic autoimmune disease, affecting 0.1% of the general population. To characterize the molecular and clinical variabilities among patients with primary SS, we integrated transcriptom ...

WILEY2022

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 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

Genetic, metabolic, and molecular insights into the diverse outcomes of diet-induced obesity in mouse

Alexis Maximilien Bachmann

Overweight and obesity are increasingly common public health issues worldwide, leading to a wide range of diseases from metabolic syndrome to steatohepatitis and cardiovascular diseases. While the increase in the prevalence of obesity is partly attributabl ...

EPFL2021

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

High-throughput DNA barcoding of oligochaetes for abundance-based indices to assess the biological quality of sediments in streams and lakes

Benoît Jean Dominique Ferrari, Régis Lionel Vivien

Aquatic oligochaete communities are valuable indicators of the biological quality of sediments in streams and lakes, but identification of specimens to the species level based on morphological features requires solid expertise in taxonomy and is possible o ...

Nature Research2020

Multi-omics reveals abundant mitochondrial genomic and circadian expression variation in the Drosophila Genetic Reference Panel

Maria Litovchenko

Modern biology rapidly generates a wealth of data,which can only be analysed computationally.Despite the variety of available data types,most of them aim to provide an answer to one question: how does genotypic diversity translates into phenotypes? This qu ...

EPFL2020

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

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

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

Analysis of Inherited Optic Neuropathies

Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...

2019

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

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

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, Flavia Aurelia Shoko Hodel, Christian Hammer, 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

MedChain: Accountable and Auditable Data Sharing in Distributed Medical Scenarios

Jean-Pierre Hubaux, Linus Gasser, Jean Louis Raisaro, Bryan Alexander Ford, Juan Ramón Troncoso-Pastoriza

The current trend towards personalized medicine creates an urgent need to share data among different hospitals and health institutions, which endangers the privacy of the data subjects if not done with the appropriate precautions. Conversely, the frequency ...

2019

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

On Secure Cloud Computing for Genomic Data: From Storage to Analysis

Zhicong Huang

Although privacy is generally considered to be the right of an individual or group to control information about themselves, such a right has become challenging to protect in the digital era, this is exemplified by the case of cloud-based genomic computing. ...

EPFL2018