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Noisy regulatory elements with personal variation in accessibility are significantly enriched for autoimmune disease loci.
Identifying features shaping the architecture of sequence variations is important for understanding genome evolution and mapping disease loci.
Analysis of the patterns of segmental sharing has the potential to map disease loci that contain multiple rare variants in a population-based linkage analysis.
Recent advances have enabled a comprehensive understanding of the genetic architecture of inflammatory bowel disease (IBD) with over 30 identified and replicated disease loci.
The genetic basis of complex diseases is expected to be highly heterogeneous, with complex interactions among multiple disease loci and environment factors.
This study was designed to identify disease loci for hypoplastic left heart syndrome (HLHS) and evaluate the genetic relationship between HLHS and bicuspid aortic valve (BAV).
We then investigate the power of both one-stage method and mixed two-stage method to detect interacting disease loci for a range of two-locus epistatic models in a case control study design.
Motivated by a schizophrenia data set, we propose a method for measuring and testing the relative entropy of a clinical phenotype, through which one can test the contribution or interaction of multiple disease loci to a clinical phenotype.
Finally, development of genetic tools for rapid screening of families and populations at risk for inherited disease means that the cost of identifying and testing for disease loci will significantly decrease in coming years.
There are currently over 180 mapped disease loci which cause blindness in humans (http://www.sph.uth.tmc.edu/RetNet/).uth.tmc.edu/RetNet/
CNV regions may contain hundreds of genes, disease loci, functional elements and SDs.
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