Publication

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Publications associées (28)

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

Stéphane Joost, Estelle Rochat, Oliver Michele Selmoni

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 ...

2021

Coronary Artery Disease-Associated and Longevity-Associated Polygenic Risk Scores for Prediction of Coronary Artery Disease Events in Persons Living With Human Immunodeficiency Virus: The Swiss HIV Cohort Study

Jacques Fellay, Christian Axel Wandall Thorball

Background: Coronary artery disease (CAD) is in part genetically determined. Aging is accentuated in people with human immunodeficiency virus (HIV) (PLWH). It is unknown whether genetic CAD event prediction in PLWH is improved by applying individual polyge ...

OXFORD UNIV PRESS INC2021

Immunological lessons from genome-wide association studies of infections

Jacques Fellay, Christian Axel Wandall Thorball, Alessandro Borghesi

Over the past few years, genome-wide association studies (GWAS) have been increasingly applied to identify host genetic factors influencing clinical and laboratory traits related to immunity and infection, and to understand the interplay between the host a ...

CURRENT BIOLOGY LTD2021

Mycobacterium leprae diversity and population dynamics in medieval Europe from novel ancient genomes

Stewart Cole, Philippe Busso, Charlotte Avanzi

Background Hansen's disease (leprosy), widespread in medieval Europe, is today mainly prevalent in tropical and subtropical regions with around 200,000 new cases reported annually. Despite its long history and appearance in historical records, its origins ...

BMC2021

Early detection and surveillance of SARS-CoV-2 genomic variants in wastewater using COJAC

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

The continuing emergence of SARS-CoV-2 variants of concern and variants of interest emphasizes the need for early detection and epidemiological surveillance of novel variants. We used genomic sequencing of 122 wastewater samples from three locations in Swi ...

2022

A fully joint Bayesian quantitative trait locus mapping of human protein abundance in plasma

Anthony Christopher Davison, Hélène Ruffieux, Radu Popescu, Jörg Hager

Molecular quantitative trait locus (QTL) analyses are increasingly popular to explore the genetic architecture of complex traits, but existing studies do not leverage shared regulatory patterns and suffer from a large multiplicity burden, which hampers the ...

PUBLIC LIBRARY SCIENCE2020

Comprehensive analysis of PM20D1 QTL in Alzheimer's disease

Liliane Glauser, Johannes Gräff, Jose Vicente Sanchez Mut

Background Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not ind ...

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 ...

Nature Research2020