Genetic architecture: the shape of the genetic contribution to human traits and disease
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 …
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 …
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 …
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 …
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
The near completeness of human chromosome sequences is facilitating accurate
characterization and assessment of all classes of genomic variation. Particularly, using the …
characterization and assessment of all classes of genomic variation. Particularly, using the …
Towards a complete resolution of the genetic architecture of disease
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 …
of exponential discovery. This is particularly apparent for complex disease. Genome-wide …
The critical needs and challenges for genetic architecture studies in Africa
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 …
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
Although genetic correlations between complex traits provide valuable insights into
epidemiological and etiological studies, a precise quantification of which genomic regions …
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 …
characterize genetic overlap between human complex traits and common diseases. The …
A cross-population atlas of genetic associations for 220 human phenotypes
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 …
populations and scope of phenotypes. To expand an atlas of genetic associations in non …