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Towards mouse genetic-specific RNA-sequencing read mapping
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Infectious diseases are particularly challenging for genome-wide association studies (GWAS) because genetic effects from two organisms (pathogen and host) can influence a trait. Traditional GWAS assume individual samples are independent observations. Howev ...
OXFORD UNIV PRESS2022The genetic architecture of complex human traits at the dawn of genomic medicine
The focus of the work presented in this thesis is the exploration of the genetic architecture of complex human traits - at the dawn of genomic medicine.
The underlying mechanisms explaining the enormously polygenic nature of most human complex traits are ...
EPFL2021A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response
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A high-resolution reference panel based on whole-genome sequencing data enables accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response. Fine-mapping to plausible causal variation ma ...
NATURE PORTFOLIO2021A platform for experimental precision medicine: The extended BXD mouse family
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The challenge of precision medicine is to model complex interactions among DNA variants, phenotypes, development, environments, and treatments. We address this challenge by expanding the BXD family of mice to 140 fully isogenic strains, creating a uniquely ...
CELL PRESS2021A fully joint Bayesian quantitative trait locus mapping of human protein abundance in plasma
Anthony Christopher Davison, Jörg Hager, Hélène Ruffieux, Radu Popescu
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 SCIENCE2020Comprehensive analysis of PM20D1 QTL in Alzheimer's disease
Johannes Gräff, Liliane Glauser, 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 ...
BMC2020