ArticleAmerican journal of human genetics1995
Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed.
- Disentangling linkage disequilibrium and linkage from dense single-nucleotide polymorphism trio data.Genetics · 2005Article
- Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.Human genetics · 2005Article
- Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Likelihood analysis of disequilibrium mapping, and related problems.American journal of human genetics · 1998Article
- Fine-scale genetic mapping based on linkage disequilibrium: theory and applications.American journal of human genetics · 1997Article
- Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.American journal of human genetics · 1996Article
- Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.American journal of human genetics · 1996Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
In the past several years, allelic association has helped map a number of rare genetic diseases in the human genome. A commonly used upper bound on the recombination fraction between the disease gene and an associated marker is known to be biased downward, so there is the possibility that an investigator could be misled. This upper bound is based on a moment equation that can be derived within the context of a Poisson branching process, so its performance can be compared with a recently proposed likelihood bound. We show that the confidence level of the moment upper bound is much lower than expected, while the confidence level of the likelihood bound is in line with expectation. The effects of mutation at either the marker or disease locus on the upper bounds are also investigated. Results indicate that mutation is not an important force for typical mutation rates, unless the recombination fraction between the marker and disease locus is very small or the disease allele is very rare in the general population. Finally, the impact of sample size on the likelihood bound is investigated. The results are illustrated with data on 10 simple genetic diseased in the Finnish population.
Indexed as
Identifiers
8533779PMC1801420What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.