Related Experiment Video
Updated: Jun 17, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Integration of a priori gene set information into genome-wide association studies
Melanie Sohns1, Albert Rosenberger1, Heike Bickeböller1
1Department of Genetic Epidemiology, University Medical Center Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.
Abstract:
In genome-wide association studies (GWAS) genetic markers are often ranked to select genes for further pursuit. Especially for moderately associated and interrelated genes, information on genes and pathways may improve the selection. We applied and combined two main approaches for data integration to a GWAS for rheumatoid arthritis, gene set enrichment analysis (GSEA) and hierarchical Bayes prioritization (HBP). Many associated genes are located in the HLA region on 6p21. However, the ranking lists of genes and gene sets differ considerably depending on the chosen approach: HBP changes the ranking only slightly and primarily contains HLA genes in the top 100 gene lists. GSEA includes also many non-HLA genes.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Genome Annotation and Assembly
Genomics
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Pharmacogenomics: Identification of New Drug Targets
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...

