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Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae

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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

Memoryless Worker-Task Assignment with Polylogarithmic Switching Cost

Adam Teodor Polak

We study the basic problem of assigning memoryless workers to tasks with dynamically changing demands. Given a set of w workers and a multiset T ⊆ [t] of |T| = w tasks, a memoryless worker-task assignment function is any function ϕ that assigns the workers ...

Schloss Dagstuhl -- Leibniz-Zentrum fur Informatik2022

Essential role of Cp190 in physical and regulatory boundary formation

Nicolas Jean Philippe Guex, Christian Iseli, Julien Dorier

Boundaries in animal genomes delimit contact domains with enhanced internal contact frequencies and have debated functions in limiting regulatory cross-talk between domains and guiding enhancers to target promoters. Most mammalian boundaries form by stalli ...

2022

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

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

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

Toward a mechanistic understanding of variable chromatin modules

Gerard Llimos Aubach

Our genome is a long sequence of DNA that contains all the information to be able to constitute a living organism like us, similarly to what the letters in a book do to create a story. This sequence, which is a stretch of molecules called nucleotides, is a ...

EPFL2021

Nothing New Under the Sun: Novelty Constructs and Measures in Social Studies

Davide Bavato

The concept of novelty is central to questions of creativity, innovation, and discovery. Despite the prominence in scientific inquiry and everyday discourse, there is a chronic ambiguity over its meaning and a surprising variety of empirical measures, whic ...

Emerald Publishing Limited2022

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

Integrative transcriptome analyses of Transposable Elements (TEs) and genes contribute to a better understanding of colorectal cancer

Eunji Shin

Cancer is the second leading cause of death worldwide. Cancer develops through multiple hallmark functions including apoptosis evasion, unlimited replicative potential, metastasis, and immune avoidance. Over the past few decades, researchers have reported ...

EPFL2022

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

Identification of genes required for host-cell adhesion and antibiotic persistence of uropathogenic Escherichia coli via high-content screening

Thomas Marie Simonet

Uropathogenic Escherichia coli (UPEC) are the most common bacterial pathogens causing urinary tract infections (UTIs). Driven by the development of antibiotic resistant UPEC strains, UTIs have become a major public health issue and generate substantial hea ...

EPFL2022

A New Channel-Base Lightning Current Formula With Analytically Adjustable Parameters

Farhad Rachidi-Haeri

The article provides a new channel-based current function, which aims at faithfully reproducing the salient parameters of lightning currents. All the model parameters can be set in a fully analytical way, guaranteeing the possibility of changing them (acco ...

2021

KRAB zinc finger protein-mediated control of transposon-embedded regulatory sequences from human germline to early embryos

Alexandra Iouranova

Transposable elements (TEs), also called jumping genes, are genetic elements capable of changing their position within the genome of their host. They make up large fractions of genomes, including 45% of human DNA content, according to current estimates. S ...

EPFL2021

Hmx1 regulates urfh1 expression in the craniofacial region in zebrafish

Daniel Francis Schorderet

H6 family homeobox 1 (HMX1) regulates multiple aspects of craniofacial development as it is widely expressed in the eye, peripheral ganglia and branchial arches. Mutations in HMX1 are linked to an ocular defect termed Oculo-auricular syndrome of Schorderet ...

2021

Seascape genomics reveals candidate molecular targets of heat stress adaptation in three coral species

Stéphane Joost, Oliver Michele Selmoni

Anomalous heat waves are causing a major decline of hard corals around the world and threatening the persistence of coral reefs. There are, however, reefs that have been exposed to recurrent thermal stress over the years and whose corals appear to have bee ...

WILEY2021

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

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Nicolas Jean Philippe Guex

Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelate ...

Oxford University Press2021

Mycobacterium leprae diversity and population dynamics in medieval Europe from novel ancient genomes

Stewart Cole, Charlotte Avanzi, Philippe Busso

Background Hansen's disease (leprosy), widespread in medieval Europe, is today mainly prevalent in tropical and subtropical regions with around 200,000 new cases reported annually. Despite its long history and appearance in historical records, its origins ...

BMC2021