Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration

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Publications associées (31)

Likelihood-free Inference of Population Genetic Parameters from Time-Sampled Genetic Data

Hyunjin Shim

This thesis consists of five papers published in peer-reviewed journals, two of which focus on method development of time-serial inference, represented by publications in methodology journals, and three others that describe collaborative data applications ...

EPFL2018

Visual masking deficits in schizophrenia: A view into the genetics of the disease through an endophenotype

Michael Herzog, Maya Roinishvili, Jacques Fellay, Flavia Aurelia Shoko Hodel

Schizophrenia is a chronic disorder determined by a complex mix of genetic and environmental factors. To better understand the contributions of human genetic variation to schizophrenia, we performed a genome-wide association study of a validated endophenot ...

2018

Microfluidic high-content phenotypic screening on a Caenorhabditis elegans model

Maria Cristina Letizia

Caenorhabditis elegans is a performant model system for studying human biological processes and diseases and for pre-clinical phenotyping screenings of compounds. Microfluidics has been instrumental in enabling C. elegans-based drug assays, facilitating th ...

EPFL2018

Combining genotype, phenotype and environment to infer potential candidate genes: An example using the Loblolly pine (Pinus taeda)

Stéphane Joost

Population genomic analyses can be an important tool in understanding local adaptation. Identification of potential adaptive loci in such analyses is usually based on the survey of a large genomic dataset in combination with environmental variables. Phenot ...

Oxford University Press2017

Efficient inference for genetic association studies with multiple outcomes

Anthony Christopher Davison, Hélène Ruffieux, Jörg Hager

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single clinical outcome on ma ...

Oxford University Press2017

Resistance of echovirus 11 to ClO2 is associated with enhanced host receptor use, altered entry routes and high fitness

Virginie Bachmann, Tamar Kohn, Hyunjin Shim, Qingxia Zhong, Jeffrey David Jensen, Anna Carratala Ripolles

Waterborne viruses can exhibit resistance to common water disinfectants, yet the mechanisms that allow them to tolerate disinfection are poorly understood. Here, we generated echovirus 11 (E11) with resistance to chlorine dioxide (ClO2) by experimental evo ...

Amer Chemical Soc2017

Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness

PurposeTo evaluate the relationship between the peripapillary metabolic alterations [retinal vessel Oximetry (RO)] and the structural findings [retinal vessel diameter and retinal nerve fibre layer thickness (RNFL)] in patients with inherited retinal dystr ...

Wiley2017

SNP2TFBS - a database of regulatory SNPs affecting predicted transcription factor binding site affinity

Philipp Bucher, Giovanna Ambrosini, Sunil Kumar

SNP2TFBS is a computational resource intended to support researchers investigating the molecular mechanisms underlying regulatory variation in the human genome. The database essentially consists of a collection of text files providing specific annotations ...

Oxford University Press2016

Host genetic predictors of the kynurenine pathway of tryptophan catabolism among treated HIV-infected Ugandans

Yunfei Huang

Objective: Plasma kynurenine/tryptophan ratio, a biomarker of indoleamine 2,3-dioxygenase-1 (IDO) activity, is a strong independent predictor of mortality in HIV-infected Ugandans initiating antiretroviral therapy (ART) and may play a key role in HIV patho ...

Lippincott Williams & Wilkins2016

Ecological strategies in stable and disturbed environments depend on species specialisation

Séverine Vuilleumier Varisco

Ecological strategies are integral to understanding species survival in different environments. However, how habitat specialisation is involved in such strategies is not fully understood, particularly in heterogeneous and disturbed environments. Here, we s ...

2016

The Drosophila gut response to infection : a systems approach

Maroun Bou Sleiman

Genetic, physiological, and biochemical studies have successfully ascribed functions to genes in diverse processes. However, the majority of our knowledge in biology is qualitative in nature and is usually based on classical screens, where large effects on ...

EPFL2016

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