Publications related to Human genetics

Ancestral genome reconstruction enhances transposable element annotation by identifying degenerate integrants

Didier Trono, Evaristo Jose Planet Letschert, Wayo Matsushima

Growing evidence indicates that transposable elements (TEs) play important roles in evolution by providing genomes with coding and non-coding sequences. Identification of TE-derived functional elements, however, has relied on TE annotations in individual s ...

2024

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

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

Naming CHO cells for bio-manufacturing: Genome plasticity and variant phenotypes of cell populations in bioreactors question the relevance of old names

Florian Maria Wurm

Chinese Hamster Ovary [CHO] cells are the workhorse for production of modern biopharmaceuticals. They are however immortalized cells with a high propensity for genetic change. Judging from published culture records, CHO cell populations have undergone hund ...

2021

Computational identification and experimental characterization of preferred downstream positions in human core promoters

Philipp Bucher, René Dreos

Author summary Transcription of genes by the RNA polymerase II enzyme initiates at a genomic region termed the core promoter. The core promoter is a regulatory region that may contain diverse short DNA sequence motifs/elements that confer specific properti ...

2021

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

The Quest for Genes Involved in Adaptation to Climate Change in Ruminant Livestock

Stéphane Joost, Elia Vajana

Simple Summary: After domestication in specific regions, livestock followed human migrations and colonized the whole world. During this population expansion, human and natural selection, together with demographic events, molded the livestock genome leading ...

2021

Mouse Systems Genetics as a Prelude to Precision Medicine

Johan Auwerx, Hao Li

Mouse models have been instrumental in understanding human disease biology and proposing possible new treatments. The precise control of the environment and genetic composition of mice allows more rigorous observations, but limits the generalizability and ...

2020

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

cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel

Bart Deplancke, Vincent Roland Julien Gardeux, Maroun Bou Sleiman, Virginie Sandra Braman, Riccardo Dainese, Maria Litovchenko, Michael Vincent Frochaux, Dani Osman, Brian Dennis Hollis, Tommaso Andreani

Background: Resistance to enteric pathogens is a complex trait at the crossroads of multiple biological processes. We have previously shown in the Drosophila Genetic Reference Panel (DGRP) that resistance to infection is highly heritable, but our understan ...

2020

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

Do Lewy bodies contain alpha-synuclein fibrils? and Does it matter? A brief history and critical analysis of recent reports

Hilal Lashuel

Several lines of evidence from neuropathological studies, human genetics, in vitro aggregation studies and cellular and animal models support the hypothesis that aSyn plays a central role in the formation of Lewy pathologies. These are cytoplasmic proteina ...

2020

Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment

Jacques Fellay, Christian Axel Wandall Thorball, Alessandro Borghesi

Background: The primary hurdle for the eradication of HIV-1 is the establishment of a latent viral reservoir early after primary infection. Here, we investigated the potential influence of human genetic variation on the HIV-1 reservoir size and its decay r ...

LIPPINCOTT WILLIAMS & WILKINS2020

Susceptibility to infection in early life: a growing role for human genetics

Jacques Fellay, Alessandro Borghesi

The unique vulnerability to infection of newborns and young infants is generally explained by a constellation of differences between early-life immune responses and immune responses at later ages, often referred to as neonatal immune immaturity. This devel ...

SPRINGER2020

Mutual Understanding in Educational Human-Robot Collaborations

Alexis David Jacq

Education is an art close to theater. A teacher is taking a role; he works his speeches and his gestures and he plays with the attention of his audience. But it is harder: more than entertaining, a teacher must shape the skills, the knowledge and the motiv ...

EPFL2020

Cross-species functional modules link proteostasis to human normal aging

Johan Auwerx, Hao Li, Vincenzo Sorrentino, Andrea Komljenovic

The evolutionarily conserved nature of the few well-known anti-aging interventions that affect lifespan, such as caloric restriction, suggests that aging-related research in model organisms is directly relevant to human aging. Since human lifespan is a com ...

2019

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

The Least Cost Path From Landscape Genetics to Landscape Genomics: Challenges and Opportunities to Explore NGS Data in a Spatially Explicit Context

Stéphane Joost

Ecosystems are the stage on which the play of evolution is acted. Inferring evolutionary processes from the spatial and temporal genetic patterns they produce in populations is challenging because ecosystems are highly complex, spatially structured, and te ...

2018

The metabolite BH4 controls T cell proliferation in autoimmunity and cancer

Kai Johnsson, Jairo Alexander Lozano Moreno, Yann Mathieu Pierson

Genetic regulators and environmental stimuli modulate T cell activation in autoimmunity and cancer. The enzyme co-factor tetrahydrobiopterin (BH4) is involved in the production of monoamine neurotransmitters, the generation of nitric oxide, and pain(1,2). ...

NATURE PUBLISHING GROUP2018

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