The major online single nucleotide polymorphism (SNP) databases freely available as research tools for genetic analysis are explained, reviewed, and compared. An outline is given of the search strategies that can be used with the most extensive current SNP databases: National Centre for Biotechnology Information (NCBI) dbSNP and HapMap to help the user secure the most appropriate data for the r...

Balancing selection has been shown to act on several genes in short-term evolutionary contexts, but it is not known whether this force is responsible for maintaining a significant number of long-term polymorphisms. We aligned 7628 chimpanzee virtual transcripts and 5524 chimp ESTs to the 4x chimp draft genome assembly and identified polymorphisms in chimpanzee that also occurred in the human si...

Recently, for copy number variation (CNV) analysis, bovine researchers have focused mainly on the use of genome-wide SNP genotyping arrays. One of the highest densities commercially available SNPchips for cattle is the Affymetrix axiom genome-wide Bos 1, which assays 648,315 informative SNPs across the whole bovine genome. Here, we describe the microarray data, quality controls and validation i...

tional physical map data (especially on the Z chromosome), has paved the way for defining gene function and genetic background for phenotypic variation in the chicken (Miller, 2006). Inbred lines and crosses derived from them provide a powerful tool for detection of gene’s function and interactions involved in controlling various traits such as immunity, disease resistance, growth, and producti...

Mutations in the gene TP53, which codifies the tumor suppressor protein p53, are found in about 50% of tumors. These mutations can occur not only at somatic level, but also in germline. Pediatric cancer patients, mostly with additional family history of malignancy, should be considered as potential TP53 germline mutation carriers. Germline TP53 mutations and polymorphisms have been widely studi...

Genetic predisposition without doubt is one of the risk factors cancer initiation. It known that single nucleotide polymorphisms (SNP) genes maintain genome stability, including SNP DNA repair, may contribute to initiation carcinogenesis. Single-nucleotide support repair genes, can Polymorphism excision gene OGG1 causes interest leading scientific groups from various countries. assumed there re...

The upcoming release of new whole-genome genotyping technologies will shed new light on whether there is an associative effect of previously immeasurable rare variants on incidence of disease. For Genetic Analysis Workshop 17, our team focused on a statistical method to detect associations between gene-based multiple rare variants and disease status. We added a combination of rare SNPs to a com...

The "matrix coalescent" is a reformulation of the familiar coalescent process of population genetics. It ignores the topology of the gene tree and treats the coalescent as a Markov process describing the decay in the number of ancestors of a sample of genes as one proceeds backward in time. The matrix formulation of this process is convenient when the population changes in size, because such ch...