Phénotype

Publications associées (149)

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

Live-seq enables temporal transcriptomic recording of single cells

Bart Deplancke, Vincent Roland Julien Gardeux, Orane Josiane Guillaume-Gentil, Riccardo Dainese, Wanze Chen, Pernille Yde Rainer, Magda Zachara, Wouter Saelens

Single-cell transcriptomics (scRNA-seq) has greatly advanced our ability to characterize cellular heterogeneity(1). However, scRNA-seq requires lysing cells, which impedes further molecular or functional analyses on the same cells. Here, we established Liv ...

NATURE PORTFOLIO2022

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

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

Spatial areas of genotype probability: Predicting the spatial distribution of adaptive genetic variants under future climatic conditions

Stéphane Joost, Oliver Michele Selmoni, Estelle Rochat

In a context of rapid global change, one of the key components for the survival of species is their genetic evolutionary potential for adaptation. Many methods have been developed to identify genetic variants underpinning adaptation to climate, but few too ...

WILEY2021

Spatiotemporally regulated targeted gene manipulation is a common way to study the effect of gene variants on phenotypic traits, but the Cre/loxP and Tet-On/Tet-Off systems can affect whole-organism physiology and function due to off-target effects. We hig ...

ROCKEFELLER UNIV PRESS2020

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

Automated phenotyping of Caenorhabditis elegans embryos with a high-throughput-screening microfluidic platform

Martinus Gijs, Matteo Cornaglia, Raphaël Etienne Jean Trouillon, Hüseyin Baris Atakan, Tunç Alkanat

The nematode Caenorhabditis elegans has been extensively used as a model multicellular organism to study the influence of osmotic stress conditions and the toxicity of chemical compounds on developmental and motility-associated phenotypes. However, the sev ...

2020

Genetic spectrum of retinal dystrophies in Tunisia

Imen Habibi

We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype-phenotype correlations. A subset of 26 families from a cohort of 73 f ...

2020

Targeted Perturb-seq enables genome-scale genetic screens in single cells

Christoph Merten

The transcriptome contains rich information on molecular, cellular and organismal phenotypes. However, experimental and statistical limitations constrain sensitivity and throughput of genetic screening with single-cell transcriptomics readout. To overcome ...

2020