What is a genetic association study?
Genetic association studies determine the correlation of sequence variation in the genome with the occurrence of diseases or the magnitude of traits. See our genetics primer for an introduction to genetic association analysis.
Where do the associations in the Knowledge Portals come from?
This page describes the genetic association data in the Knowledge Portals and how they are obtained, processed, and displayed.
How can I contribute my data?
We welcome contributions of data and collaborations around bioinformatic methods and visualizations of new data types! Please see this page for details.
What is LD clumping?
LD clumping is a method to group the most significant genetic associations in a region in terms of a smaller number of "clumps" of genetically linked SNPs. This can help the researcher to assess how many independent loci are associated with a given trait.
What is a genomic annotation?
Genomic annotations denote an attribute of a specific genomic region, other than its sequence. For example, a region might be annotated as a promoter, an area of open chromatin, or a region that physically contacts a non-contiguous chromosomal region in three-dimensional space.
I suspect that my gene of interest may be important for a disease. How can I evaluate whether human genetic evidence supports this hypothesis?
Try our genetic support workflow!
How can I integrate all the different data types in the Knowledge Portals to prioritize variants and genes in a genomic region?
Try the Variant Sifter tool, as illustrated in our integrative analysis workflow.
How do all the Knowledge Portals compare to each other?
Most of the Knowledge Portals (KPs) have the same general architecture but display genetic association results for different sets of phenotypes. On this page you can select a portal and see which phenotypes it includes. Click the Research Method tab on that page to see a chart that summarizes the phenotypes available in each KP. For a full list of the KPs and links to view them, see the home page of the platform that powers the KPs, the Human Genetics Amplifier.
How can I upload my own results to visualize and share them?
Try our open-access Bring Your Own Results (BYOR) service.