Publications related to Genotyping

Related publications (19)

The enhancement of DNA fragmentation in a bench top ultrasonic water bath with needle-induced air bubbles: Simulation and experimental investigation

Martinus Adela Maria Gijs, Thomas Lehnert

Shearing DNA to a certain size is the first step in many medical and biological applications, especially in next-generation gene sequencing technology. In this article, we introduced a highly efficient ultrasonic DNA fragmentation method enhanced by needle ...

AIP Publishing2022

Genomic Instability Profiles at the Single Cell Level in Mouse Colorectal Cancers of Defined Genotypes

Jörg Hülsken, Maxim Norkin

The genomes of many human CRCs have been sequenced, revealing a large number of genetic alterations. However, the molecular mechanisms underlying the accumulation of these alterations are still being debated. In this study, we examined colorectal tumours t ...

2021

Seascape genomics reveals candidate molecular targets of heat stress adaptation in three coral species

Stéphane Joost, Oliver Michele Selmoni

Anomalous heat waves are causing a major decline of hard corals around the world and threatening the persistence of coral reefs. There are, however, reefs that have been exposed to recurrent thermal stress over the years and whose corals appear to have bee ...

WILEY2021

Common genetic variants associated with Parkinson's disease display widespread signature of epigenetic plasticity

Philipp Bucher, Giovanna Ambrosini

Parkinson disease (PD) is characterized by a pivotal progressive loss of substantia nigra dopaminergic neurons and aggregation of alpha-synuclein protein encoded by the SNCA gene. Genome-wide association studies identified almost 100 sequence variants link ...

Springer Nature2019

Relationship Between Inactivation and Genome Damage of Human Enteroviruses Upon Treatment by UV254, Free Chlorine, and Ozone

Tamar Kohn, Virginie Bachmann, Jason Robert Torrey, Suzanne Marie Young

Quantitative PCR (qPCR) is a convenient tool for monitoring virus concentrations in water and wastewater treatment trains, though it only informs about virus presence, but not infectivity. This limitation can be overcome if the relationship between infecti ...

2019

Simulating the Large-Scale Erosion of Genomic Privacy Over Time

Mathias Jacques Jean-Marc Humbert

The dramatically decreasing costs of DNA sequencing have triggered more than a million humans to have their genotypes sequenced. Moreover, these individuals increasingly make their genomic data publicly available, thereby creating privacy threats for thems ...

IEEE COMPUTER SOC2018

The phenotypic impact of naturally occurring genetic and molecular mitochondrial variation in a Drosophila Genetic Reference Population

Roel Paulus Josephus Bevers

Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...

EPFL2018

Evaluating the Impact of Functional Genetic Variation on HIV-1 Control

Jacques Fellay, Paul Jack Mc Laren, Istvan Bartha

Previous genetic association studies of human immunodeficiency virus-1 (HIV-1) progression have focused on common human genetic variation ascertained through genome-wide genotyping. ...

Oxford Univ Press Inc2017

Molecular sensing device

Aleksandra Radenovic, Ke Liu, Jiandong Feng

Molecular sensing system including: a sensing device (5) comprising at least one support layer (10), and an active layer (6) mounted on said support layer and having at least one nano-pore (12) configured for translocation of a molecular analyte (18) there ...

2017

Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols

Paul Jack Mc Laren

Background Efavirenz and abacavir are components of recommended first-line regimens for HIV-1 infection. We used genome-wide genotyping and clinical data to explore genetic associations with virologic failure among patients randomized to efavirenz-containi ...

Lippincott Williams & Wilkins2015

De-anonymizing Genomic Databases Using Phenotypic Traits

Jean-Pierre Hubaux, Erman Ayday, Mathias Jacques Jean-Marc Humbert, Kévin Clément Huguenin, Joachim Ludovic Hugonot

People increasingly have their genomes sequenced and some of them share their genomic data online. They do so for various purposes, including to find relatives and to help advance genomic research. An individual's genome carries very sensitive, private inf ...

2015

Genome-wide re-sequencing of multidrug-resistant Mycobacterium leprae Airaku-3

Stewart Cole, Jacques Rougemont, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh

Genotyping and molecular characterization of drug resistance mechanisms in Mycobacterium leprae enables disease transmission and drug resistance trends to be monitored. In the present study, we performed genome-wide analysis of Airaku-3, a multidrug-resist ...

Wiley-Blackwell2014

High-resolution transcriptome and genome-wide dynamics of RNA polymerase and NusA in Mycobacterium tuberculosis

Stewart Cole, Jacques Rougemont, Claudia Sala, Swapna Uplekar

To construct a regulatory map of the genome of the human pathogen, Mycobacterium tuberculosis, we applied two complementary high-resolution approaches: strand-specific RNA-seq, to survey the global transcriptome, and ChIP-seq, to monitor the genome-wide dy ...

Oxford University Press2013

Association Study of Common Genetic Variants and HIV-1 Acquisition in 6,300 Infected Cases and 7,200 Controls

Jacques Fellay, Paul Jack Mc Laren

Multiple genome-wide association studies (GWAS) have been performed in HIV-1 infected individuals, identifying common genetic influences on viral control and disease course. Similarly, common genetic correlates of acquisition of HIV-1 after exposure have b ...

Public Library Science2013

A Critical Assessment of Storytelling: Gene Ontology Categories and the Importance of Validating Genomic Scans

Jeffrey David Jensen, Alexandros Stamatakis

In the age of whole-genome population genetics, so-called genomic scan studies often conclude with a long list of putatively selected loci. These lists are then further scrutinized to annotate these regions by gene function, corresponding biological proces ...

Oxford University Press2012

Inference about the number of contributors to a DNA mixture: Comparative analyses of a Bayesian network approach and the maximum allele count method

Kjell Konis

In the forensic examination of DNA mixtures, the question of how to set the total number of contributors (N) presents a topic of ongoing interest. Part of the discussion gravitates around issues of bias, in particular when assessments of the number of cont ...

Elsevier2012

Genomics and transcriptomics of the Mycobacterium tuberculosis complex

Swapna Uplekar

The goal of eliminating tuberculosis (TB) by 2050 depends on the development of improved TB diagnostics, drugs and vaccines. Advances in these areas require a deep understanding of the disease and its causative agent, Mycobacterium tuberculosis (M. tb). My ...

EPFL2012

Genotyping Microarray for CSNB-Associated Genes

PURPOSE. Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects ...

2009

Multi-cellular reconfigurable circuits : evolution, morphogenesis and learning

Daniel Roggen

Bio-inspired electronic circuits have the potential to address some of the shortcomings of conventional electronic circuits, such as lack of applicability to ill-defined problems, of robustness, or of adaptivity to unexpectedly changing environments. Bio-i ...

EPFL2005