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

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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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

The manipulation of digital content is not a new phenomenon, but the application of machine learning to the creation of deepfakes has (i) radically improved the quality of output, (ii) slashed the resources required to produce realistic fakes at previously ...

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 ...

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

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The dynamic genetic determinants of increased transcriptional divergence in spermatids

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

Neural ADMIXTURE for rapid genomic clustering

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

Archetypal Analysis for population genetics

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

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

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

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

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

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

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

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

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

Analysis of Inherited Optic Neuropathies

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

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

MedChain: Accountable and Auditable Data Sharing in Distributed Medical Scenarios

Forged Authenticity: Governing Deepfake Risks

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