Concept

Elective genetic and genomic testing

Related publications (64)

The microbial genomics of glacier-fed streams: adaptations to an extreme ecosystem

Glacier-fed streams are the cold, ultra-oligotrophic, and unstable streams that are fed by glacial meltwater. Despite these extreme conditions, they harbour a diverse and abundant microbial diversity that develops into biofilms, covering the boulders and s ...

EPFL2024

Detection and surveillance of SARS-CoV-2 genomic variants in wastewater

Tamar Kohn, Xavier Fernandez Cassi, Federica Cariti, Alex Tunas Corzon, Timothy R. Julian, Carola Bänziger

The emergence of SARS-CoV-2 mutants with altered transmissibility, virulence, or immunogenicity emphasizes the need for early detection and epidemiological surveillance of genomic variants. Wastewater samples provide an opportunity to assess circulating vi ...

2021

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

Rapid Progression of Kidney Dysfunction in People Living With HIV: Use of Polygenic and Data Collection on Adverse Events of Anti-HIV Drugs (D:A:D) Risk Scores

Jacques Fellay, Christian Axel Wandall Thorball

Background In people with human immunodeficiency virus (PWH), it is unknown whether genetic background associates with rapid progression of kidney dysfunction (ie, estimated glomerular filtration rate [eGFR] decrease of >5mL/min/1.73m(2) per year for >= 3 ...

OXFORD UNIV PRESS INC2021

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

Exploring the interactions between the human and viral genomes

Jacques Fellay

Over the last decade, genome-wide association studies led to major advances in identifying human genetic variants associated with infectious disease susceptibility. On the pathogen side, comparable methods are now applied to identify disease-modulating pat ...

SPRINGER2020

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Jacques Fellay, Alessandro Borghesi

Computational analyses of human patient exomes aim to filter out as many nonpathogenic genetic variants (NPVs) as possible, without removing the true disease-causing mutations. This involves comparing the patient's exome with public databases to remove rep ...

NATL ACAD SCIENCES2019

Analysis of Inherited Optic Neuropathies

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 ...

2019

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

Patrick Descombes, Sylviane Métairon, Jörg Hager, Hélène Ruffieux, Nele Gheldof

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 ...

Springer2019

GenoShare: Supporting Privacy-Informed Decisions for Sharing Exact Genomic Data

Jean-Pierre Hubaux, Mathias Jacques Jean-Marc Humbert, Carmela González Troncoso, Amalio Telenti, Jean Louis Raisaro

The academic community has proposed many solutions to address the privacy concerns associated with genomic-data sharing. However, practitioners have not adopted these solutions due to their impact on the data utility. To address this problem, we introduce ...

EPFL infoscience2018

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