Abstract
BackgroundAccurate genetic maps are required for successful and efficient linkage mapping of disease genes. However, most available genome-wide genetic maps were built using only small collections of pedigrees, and therefore have large sampling errors. A large set of genetic studies genotyped by the NHLBI Mammalian Genotyping Service (MGS) provide appropriate data for generating more accurate maps.ResultsWe collected a large sample of uncleaned genotype data for 461 markers generated by the MGS using the Weber screening sets 9 and 10. This collection includes genotypes for over 4,400 pedigrees containing over 17,000 genotyped individuals from different populations. We identified and cleaned numerous relationship and genotyping errors, as well as verified the marker orders. We used this dataset to test for population-specific genetic maps, and to re-estimate the genetic map distances with greater precision; standard errors for all intervals are provided. The map-interval sizes from the European (or European descent), Chinese, and Hispanic samples are in quite good agreement with each other. We found one map interval on chromosome 8p with a statistically significant size difference between the European and Chinese samples, and several map intervals with significant size differences between the African American and Chinese samples. When comparing Palauan with European samples, a statistically significant difference was detected at the telomeric region of chromosome 11p. Several significant differences were also identified between populations in chromosomal and genome lengths.ConclusionsOur new population-specific screening set maps can be used to improve the accuracy of disease-mapping studies. As a result of the large sample size, the average length of the 95% confidence interval (CI) for a 10 cM map interval is only 2.4 cM, which is considerably smaller than on previously published maps.
Highlights
Accurate genetic maps are required for successful and efficient linkage mapping of disease genes
Genetic maps are the foundation of linkage mapping for disease genes [1]
Accurate genetic maps can greatly increase the power of a linkage study, especially for multipoint analysis
Summary
Accurate genetic maps are required for successful and efficient linkage mapping of disease genes. Most available genome-wide genetic maps were built using only small collections of pedigrees, and have large sampling errors. A large set of genetic studies genotyped by the NHLBI Mammalian Genotyping Service (MGS) provide appropriate data for generating more accurate maps. Despite the importance of precise genetic maps for linkage studies, most genome-wide genetic maps [2,3,4,5,6,7] were built using a small collection of pedigrees comprising only the eight largest families (188 meioses total) in the Centre d’Etude du Polymorphisme Humain (CEPH) reference panel [8]. Primarily because the grandparents of these small families from Iceland were not genotyped, the average number of informative meioses is only approximately 400, leading to an average 95% CI of 6.1 cM for a 10 cM map interval
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
