HAPGEN2: simulation of multiple disease SNPs
نویسندگان
چکیده
منابع مشابه
HAPGEN2: simulation of multiple disease SNPs
MOTIVATION Performing experiments with simulated data is an inexpensive approach to evaluating competing experimental designs and analysis methods in genome-wide association studies. Simulation based on resampling known haplotypes is fast and efficient and can produce samples with patterns of linkage disequilibrium (LD), which mimic those in real data. However, the inability of current methods ...
متن کاملA Bayesian Hierarchical Model for Relating Multiple SNPs within Multiple Genes to Disease Risk
A variety of methods have been proposed for studying the association of multiple genes thought to be involved in a common pathway for a particular disease. Here, we present an extension of a Bayesian hierarchical modeling strategy that allows for multiple SNPs within each gene, with external prior information at either the SNP or gene level. The model involves variable selection at the SNP leve...
متن کاملSNPs, protein structure, and disease.
Inherited disease susceptibility in humans is most commonly associated with single nucleotide polymorphisms (SNPs). The mechanisms by which this occurs are still poorly understood. We have analyzed the effect of a set of disease-causing missense mutations arising from SNPs, and a set of newly determined SNPs from the general population. Results of in vitro mutagenesis studies, together with the...
متن کاملMULTIPLE ENCHONDROMATA: OLLIER\'S DISEASE
This report is a brief presentation of one case of Oilier's disease. Ollier's disease (multiple enchondromata) patients have widespread involvement of the skeleton, especially the hands the lesions are detected because of bone pain or deformity. Virtually all cases have been sporadic. Roentgenographically, the lesions may be detectable in early infancy as clear, homogeneous, oval lesions w...
متن کاملMultiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease.
Our previous studies using microsatellite markers near or in the TSH receptor (TSHR) gene revealed significant association between autoimmune thyroid disease (AITD) in Japanese patients and TSHR microsatellite alleles. In the present study, we performed a case-control analysis of AITD using single-nucleotide polymorphisms (SNPs) spaced 3-50 kb apart spanning the TSHR gene. We observed significa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Bioinformatics
سال: 2011
ISSN: 1460-2059,1367-4803
DOI: 10.1093/bioinformatics/btr341