Genetic architecture: the shape of the genetic contribution to human traits and disease

NJ Timpson, CMT Greenwood, N Soranzo… - Nature Reviews …, 2018 - nature.com
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …

Systems genetics approaches to understand complex traits

M Civelek, AJ Lusis - Nature Reviews Genetics, 2014 - nature.com
Abstract Systems genetics is an approach to understand the flow of biological information
that underlies complex traits. It uses a range of experimental and statistical methods to …

[HTML][HTML] Contemplating effects of genomic structural variation

JA Buchanan, SW Scherer - Genetics in Medicine, 2008 - Elsevier
Two developments have sparked new directions in the genetics-to-genomics transition for
research and medical applications: the advance of whole-genome assays by array or DNA …

Phenotypic impact of genomic structural variation: insights from and for human disease

J Weischenfeldt, O Symmons, F Spitz… - Nature Reviews …, 2013 - nature.com
Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

Structural variants: changing the landscape of chromosomes and design of disease studies

L Feuk, CR Marshall, RF Wintle… - Human molecular …, 2006 - academic.oup.com
The near completeness of human chromosome sequences is facilitating accurate
characterization and assessment of all classes of genomic variation. Particularly, using the …

Towards a complete resolution of the genetic architecture of disease

AB Singleton, J Hardy, BJ Traynor, H Houlden - Trends in genetics, 2010 - cell.com
After years of linear gains in the genetic dissection of human disease we are now in a period
of exponential discovery. This is particularly apparent for complex disease. Genome-wide …

The critical needs and challenges for genetic architecture studies in Africa

AR Martin, S Teferra, M Möller, EG Hoal… - Current Opinion in …, 2018 - Elsevier
Human genetic studies have long been vastly Eurocentric, raising a key question about the
generalizability of these study findings to other populations. Because humans originated in …

[PDF][PDF] Local genetic correlation gives insights into the shared genetic architecture of complex traits

H Shi, N Mancuso, S Spendlove, B Pasaniuc - The American Journal of …, 2017 - cell.com
Although genetic correlations between complex traits provide valuable insights into
epidemiological and etiological studies, a precise quantification of which genomic regions …

Genetic pleiotropy in complex traits and diseases: implications for genomic medicine

J Gratten, PM Visscher - Genome medicine, 2016 - Springer
Several recent papers have used summary results from genome-wide association studies to
characterize genetic overlap between human complex traits and common diseases. The …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …