Abstract
The ratio of false-positive to false-negative findings (FP:FN ratio) is an informative metric that warrants further evaluation. The FP:FN ratio varies greatly across different epidemiologic areas. In genetic epidemiology, it has varied from very high values (possibly even >100:1) for associations reported in candidate-gene studies to very low values (1:100 or lower) for associations with genome-wide significance. The substantial reduction over time in the FP:FN ratio in human genome epidemiology has corresponded to the routine adoption of stringent inferential criteria and comprehensive, agnostic reporting of all analyses. Most traditional fields of epidemiologic research more closely follow the practices of past candidate gene epidemiology, and thus have high FP:FN ratios. Further, FP and FN results do not necessarily entail the same consequences, and their relative importance may vary in different settings. This ultimately has implications for what is the acceptable FP:FN ratio and for how the results of published epidemiologic studies should be presented and interpreted.
Keywords
Affiliated Institutions
Related Publications
The human gene damage index as a gene-level approach to prioritizing exome variants
Significance The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to se...
How to Interpret a Genome-wide Association Study
Genome-wide association (GWA) studies use high-throughput genotyping technologies to assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to cli...
Discerning the Ancestry of European Americans in Genetic Association Studies
European Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the...
Prioritizing candidate disease genes by network-based boosting of genome-wide association data
Network “guilt by association” (GBA) is a proven approach for identifying novel disease genes based on the observation that similar mutational phenotypes arise from functionally...
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common di...
Publication Info
- Year
- 2011
- Type
- article
- Volume
- 22
- Issue
- 4
- Pages
- 450-456
- Citations
- 328
- Access
- Closed
External Links
Social Impact
Social media, news, blog, policy document mentions
Citation Metrics
Cite This
Identifiers
- DOI
- 10.1097/ede.0b013e31821b506e