… the phenotypic implications of a higher genetic risk burden for CD and UC using a novel
genetic … We demonstrate contrasting effects of genetics on disease behavior across CD and UC, …

… , 5 we calculated HLA genetic burden (HLAGB) for each study participant as the sum of the
burden of each MS-associated HLA allele. Each allele burden was calculated as the allele …

… burden in families were shown to interact genetically in a zebrafish assay exacerbating the
phenotype established by the suppression of single genes… contributes to disease burden and …

… A pathogenic variant in one of these genes is, in principle, interpretable in the context of the
presenting clinical phenotype and our knowledge of the diseases associated with the gene …

… products of genes in patients with distinct phenotypes, although three of the disease pairs
had phenotypic similarity scores above the mean similarity score observed for distinct cases. …

… , we identified 106 gene burdens with phenotype associations at p<10 -… genes, 12
gene-phenotype relationships were also detected by REVEL-informed missense-based gene …

… of ‘disease-causing mutations’ that fail to cause disease in at … not only why genetic diseases
are occasionally transmitted … the modulating influence of additional genetic variants in cis or …

… Genetic determinants of disease phenotypes remain largely unknown but could aid drug …
used genetic risk scores [GRS] to disentangle the genetic contributions to IBD phenotypes. …

… genetic background between diverse clinical phenotypes can provide insight into the function
of genes and … In addition, we consider genetic and epigenetic factors that contribute to the …

… referred to as genetic epidemiology. In this chapter, we review methods for establishing
the genetic burden of complex genetic disease, followed by methods for gene and/or genetic …