Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information
Background The genetic contributions to human common disorders and mouse genetic
models of disease are complex and often overlapping. In common human diseases, unlike …
models of disease are complex and often overlapping. In common human diseases, unlike …
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 …
Assessing the function of genetic variants in candidate gene association studies
TR Rebbeck, M Spitz, X Wu - Nature Reviews Genetics, 2004 - nature.com
Abstract Knowledge of inherited genetic variation has a fundamental impact on
understanding human disease. Unfortunately, our understanding of the functional …
understanding human disease. Unfortunately, our understanding of the functional …
Laboratory mouse models for the human genome-wide associations
The agnostic screening performed by genome-wide association studies (GWAS) has
uncovered associations for previously unsuspected genes. Knowledge about the functional …
uncovered associations for previously unsuspected genes. Knowledge about the functional …
Linking genes to diseases: it's all in the data
N Tiffin, MA Andrade-Navarro, C Perez-Iratxeta - Genome Medicine, 2009 - Springer
Genome-wide association analyses on large patient cohorts are generating large sets of
candidate disease genes. This is coupled with the availability of ever-increasing genomic …
candidate disease genes. This is coupled with the availability of ever-increasing genomic …
Moving toward a system genetics view of disease
SK Sieberts, EE Schadt - Mammalian Genome, 2007 - Springer
Testing hundreds of thousands of DNA markers in human, mouse, and other species for
association to complex traits like disease is now a reality. However, information on how …
association to complex traits like disease is now a reality. However, information on how …
Highly consistent patterns for inherited human diseases at the molecular level
Over 1600 mammalian genes are known to cause an inherited disorder, when subjected to
one or more mutations. These disease genes represent a unique resource for the …
one or more mutations. These disease genes represent a unique resource for the …
Unravelling the human genome–phenome relationship using phenome-wide association studies
Advances in genotyping technology have, over the past decade, enabled the focused
search for common genetic variation associated with human diseases and traits. With the …
search for common genetic variation associated with human diseases and traits. With the …
GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies
T Beck, T Rowlands, T Shorter… - Nucleic Acids …, 2023 - academic.oup.com
The GWAS Central resource gathers and curates extensive summary-level genome-wide
association study (GWAS) data and puts a range of user-friendly but powerful website tools …
association study (GWAS) data and puts a range of user-friendly but powerful website tools …
Human disease variation in the light of population genomics
Identifying the causes of similarities and differences in genetic disease prevalence among
humans is central to understanding disease etiology. While present-day humans are not …
humans is central to understanding disease etiology. While present-day humans are not …