BMC Genetics - Latest articlesThe latest articles from BMC Genetics (ISSN 1471-2156) published by BioMed CentralSequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans- May 29, 2008 Background: Triosephosphate isomerase (TPI) is a central and conserved glycolytic enzyme. In humans, TPI is encoded by a single gene on 12p13, and associated with a rare genetic disorder, TPI deficiency. Reduced TPI activity can increase specific oxidant resistances of model organisms and TPI null-alleles have been hypothesized to promote a heterozygote advantage in man. However, comprehensive genetic information about the TPI1 locus is still lacking. Results: Here, we sequenced the TPI1 locus..http://www.biomedcentral.com/1471-2156/9/38 An assessment of population structure in eight breeds of cattle using a whole genome SNP panel- May 20, 2008 Background: Analyses of population structure and breed diversity have provided insight into the origin and evolution of cattle. Previously, these studies have used a low density of microsatellite markers, however, with the large number of single nucleotide polymorphism markers that are now available, it is possible to perform genome wide population genetic analyses in cattle. In this study, we used a high-density panel of SNP markers to examine population structure and diversity among eight...http://www.biomedcentral.com/1471-2156/9/37 PGA: power calculator for case-control genetic association analyses- May 13, 2008 Background: Statistical power calculations inform the design and interpretation of genetic association studies, but few programs are tailored to case-control studies of single nucleotide polymorphisms (SNPs) in unrelated subjects. Results: We have developed the "Power for Genetic Association analyses" (PGA) package which comprises algorithms and graphical user interfaces for sample size and minimum detectable risk calculations using SNP or haplotype effects under different genetic...http://www.biomedcentral.com/1471-2156/9/36 Precision-mapping and statistical validation of quantitative trait loci by machine learning- May 2, 2008 Background: We introduce a QTL-mapping algorithm based on Statistical Machine Learning (SML) that is conceptually quite different to existing methods as there is a strong focus on generalisation ability. Our approach combines ridge regression, recursive feature elimination, and estimation of generalisation performance and marker effects using bootstrap resampling. Model performance and marker effects are determined using independent testing samples (individuals), thus providing better...http://www.biomedcentral.com/1471-2156/9/35 |