[HTML][HTML] Human genetics and its impact on cardiovascular disease

H Tada, N Fujino, K Hayashi, M Kawashiri… - Journal of …, 2022 - Elsevier
genes associated with CVD development [13]. By investigating the associations between the
human … provide important information on the impact of human genetics for CVD and how to …

From variant to function in human disease genetics

T Lappalainen, DG MacArthur - Science, 2021 - science.org
human genetics will be to understand the biological mechanisms by which genetic variants
influence phenotypes, including disease … consequences for disease diagnosis, risk prediction…

Human genetics illuminates the paths to metabolic disease

S O'Rahilly - Nature, 2009 - nature.com
… the genetic architecture of metabolic disease is likely to deliver tangible benefits to human
control of key elements of metabolic homeostasis, human genetics is likely to inform decisions …

Using human genetics to understand the disease impacts of testosterone in men and women

KS Ruth, FR Day, J Tyrrell, DJ Thompson, AR Wood… - Nature medicine, 2020 - nature.com
… Using 2,571 genome-wide significant associations, we demonstrate that the genetic
into the disease impacts of testosterone and highlight the importance of sex-specific genetic

The impact of evolutionary driving forces on human complex diseases: a population genetics approach

ATM Saeb, D Al-Naqeb - Scientifica, 2016 - Wiley Online Library
… of the genetic basis of many complex diseases by identifying genetic variants associated with
the disease and … of complex diseases in both population genetics and evolutionary context. …

[HTML][HTML] The discovery of human genetic variations and their use as disease markers: past, present and future

CS Ku, EY Loy, A Salim, Y Pawitan… - Journal of human genetics, 2010 - nature.com
geneticgenetic markers in human genetic and disease gene mapping studies. The aim
of this review article is to summarize the latest developments in the discovery of human genetic

Human genetics of infectious diseases: a unified theory

JL Casanova, L Abel - The EMBO journal, 2007 - embopress.org
… aims to define the genetic variations accounting for inter-individual variability in the course
human infections. From a clinical standpoint, this human genetic view of infectious diseases

Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes

HW Mohrenweiser, DM Wilson III, IM Jones - … Research/Fundamental and …, 2003 - Elsevier
… of disease result from the interaction of genetic susceptibility and exposure. DNA repair is an
example of a cellular process where genetic … Additionally, while a human genetic syndrome …

[HTML][HTML] Human genetics of mycobacterial disease

M Dallmann-Sauer, W Correa-Macedo, E Schurr - Mammalian genome, 2018 - Springer
human genetic predisposition to clinical TB disease and leprosy. We also summarize initial
genetic findings obtained for buruli ulcer (BU), the third most common mycobacterial disease. …

Patterns of human genetic diversity: implications for human evolutionary history and disease

SA Tishkoff, BC Verrelli - … of genomics and human genetics, 2003 - annualreviews.org
… and for understanding the genetic basis of human disease. In this review, we summarize
data on patterns of human genetic diversity and the evolutionary forces (mutation, genetic drift, …