Caries: review of human genetics research

AR Vieira, A Modesto, ML Marazita - Caries research, 2014 - karger.com
… marker is physically close or in the vicinity of the genetic variant causing the disease, there
will be statistically significant evidence of linkage, as estimated by a statistic termed LOD …

The road to precision psychiatry: translating genetics into disease mechanisms

MJ Gandal, V Leppa, H Won, NN Parikshak… - Nature …, 2016 - nature.com
… Third, human genetics is grounded in human biology, which is especially important for
neuropsychiatric phenotypes that may not be fully conserved across species. Finally, next-…

Human genetics of tuberculosis: a long and winding road

L Abel, J El-Baghdadi, AA Bousfiha… - … of the Royal …, 2014 - royalsocietypublishing.org
… We provide here an overview of the principal human genes known to … genetic studies is
also demonstrated by the strong impact of age at onset of disease on our ability to detect genetic

Human genetic variation and its contribution to complex traits

KA Frazer, SS Murray, NJ Schork, EJ Topol - Nature Reviews Genetics, 2009 - nature.com
… Over the last decade or so the human genetics field has debated the common disease–common
variant hypothesis, which posits that common complex traits are largely due to common …

Human genetics and the causal role of lipoprotein (a) for various diseases

F Kronenberg - Cardiovascular drugs and therapy, 2016 - Springer
… data from Lp(a) and cardiovascular disease. This approach was also used to … genetic
variants in the population makes Lp(a) the strongest genetic risk factor for cardiovascular disease

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

JM Chen, PD Stenson, DN Cooper, C Férec - Human genetics, 2005 - Springer
… that have caused human genetic disease, with a view to providing a more complete picture
of how L1-mediated retrotransposition impacts upon the architecture of the human genome. …

Progress and promise in understanding the genetic basis of common diseases

AL Price, CCA Spencer… - Proceedings of the …, 2015 - royalsocietypublishing.org
… It has been argued that most of this failure is due to the inadequacies of preclinical models
of disease, and our lack of understanding of human biology [68]. Critically, human genetic

Systems genetics analysis of gene-by-environment interactions in human cells

CE Romanoski, S Lee, MJ Kim, L Ingram-Drake… - … of Human Genetics, 2010 - cell.com
… of genetic variations contributing to disease susceptibility, we performed a systems
genetics … We utilized a population of primary early passage human aortic endothelial cell (HAEC) …

Genetics of human gene expression

BE Stranger, T Raj - Current opinion in genetics & development, 2013 - Elsevier
… expression quantitative trait loci (eQTLs) in human cell-lines, primary cells, and … disease.
Here, we discuss how eQTLs have the potential to accelerate discovery of disease genes and …

Introduction to Human Genetics

JE Posey, K Walz - Cellular and Animal Models in Human Genomics …, 2019 - Elsevier
… in the ability to link genes, and individual variants, to human disease traits. Genome-wide …
) on human disease traits. Below we review the current status of discovery in human genetics