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Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma

Publications associées (28)

Time-Resolved Scanning Ion Conductance Microscopy and Single-Molecule Spectroscopy

The evolution of the 3D morphology is at the center of many relevant biological processes ranging from cellular differentiation to cancer invasion and metastasis. Microscopy techniques, such as electron microscopy (EM), super-resolution (SR) optical micros ...

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

Associations of genetic and infectious risk factors with coronary heart disease

Roxane De La Harpe, Jacques Fellay, Flavia Aurelia Shoko Hodel, Christian Axel Wandall Thorball, Zhi Ming Xu

Coronary heart disease (CHD) is one of the most pressing health problems of our time and a major cause of preventable death. CHD results from complex interactions between genetic and environmental factors. Using multiplex serological testing for persistent ...

eLIFE SCIENCES PUBL LTD2023

Whole-genome doubling drives oncogenic loss of chromatin segregation

Elisa Oricchio, Natalya Katanayeva, Ruxandra-Andreea Lambuta, Juan Diaz Miyar, Giovanni Ciriello, Daniele Tavernari

Whole-genome doubling (WGD) is a recurrent event in human cancers and it promotes chromosomal instability and acquisition of aneuploidies(1-8). However, the three-dimensional organization of chromatin in WGD cells and its contribution to oncogenic phenotyp ...

NATURE PORTFOLIO2023

Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive

Konstantin Popadin

The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...

Elsevier Sci Ltd2023

Mechanistic study on the evolution of vacancies in graphene by oxidation by scanning tunneling microscopy

Shaoxian Li

Nanostructured graphitic materials, including graphene hosting Å to nanometer-sized pores, have attracted attention for various applications such as separations, sensors, and energy storage. Graphene with Å-scale pores is a promising next-generation materi ...

EPFL2023

The HLA-B*57:01 allele corresponds to a very large MHC haploblock likely explaining its massive effect for HIV-1 elite control

Jacques Fellay

Introduction: We have reanalyzed the genomic data of the International Collaboration for the Genomics of HIV (ICGH), centering on HIV-1 Elite Controllers.Methods: We performed a genome-wide Association Study comparing 543 HIV Elite Controllers with 3,272 u ...

Frontiers Media Sa2023

Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations

Jacques Fellay, Sina Rüeger, Zhi Ming Xu

Genome-wide association studies rely on the statistical inference of untyped variants, called imputation, to increase the coverage of genotyping arrays. However, the results are often suboptimal in populations underrepresented in existing reference panels ...

Public Library Science2022