One of the fruits of the Human Genome Project is the discovery of millions of DNA sequence variants in the human genome. The majority of these variants are single nucleotide polymorphisms (SNPs). A dense set of SNP markers opens up the possibility of studying the genetic basis of complex diseases by population approaches. In all study designs, a large number of individuals must be genotyped wit...

Whole genome approaches using single nucleotide polymorphism (SNP) markers have the potential to transform complex disease genetics and expedite pharmacogenetics research. This has led to a requirement for high-throughput SNP genotyping platforms. Development of a successful high-throughput genotyping platform depends on coupling reliable assay chemistry with an appropriate detection system to ...

We consider the motivating problem of testing for association between a phenotype and multiple single nucleotide polymorphisms (SNPs) within a candidate gene or region. Various statistical approaches have been proposed, including those based on either (combining univariate) single-locus analyses or (multivariate) multilocus analyses. However, it is known in theory that there is no single unifor...

Here I show a gradual decline in the proportion of deleterious nonsynonymous SNPs (nSNPs) from tip to root of the human population tree. This study reveals that up to 48% of nSNPs specific to a single genome are deleterious in nature, which underscores the abundance of deleterious polymorphisms in humans.

In this study, we investigated the relationship between the genetic polymorphism of growth differentiation factor 9 (GDF9) genes and the litter size in 384 individuals of five breeds of black goats. Four pairs of primers were designed to detect single nucleotide polymorphism of GDF9 gene in goats by PCR-SSCP. The least square was used to analyze the relation between different genotypes and the ...

Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number variants (CNVs) on the phenotype. The most common analytic approach involves estimating, at the level of the individual genome, the underlying num...

SNP Genotyping In article number 2105538, Jungkyu Choi, Hyojin Lee, Nakwon an co-workers present SWITCH for multiplex single nucleotide polymorphism genotyping. Invaders (single-stranded oligonucleotides, colored in blue and yellow) obtained from a gold nanoparticle induce fluorescence recovery specific regions of shape-coded hydrogel microparticle.

In the present research, molecular detection of bovine leukocyte adhesion deficiency (BLAD) and complex vertebral malformation (CVM)in a population of Iranian Holstein cows has been carried outusing milk somatic cells by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The BLAD and CVM are monogenic and autosomal recessive heredity lethal syndrome in Holstein-Friesi...

Objective(s):Organic anion transporter polypeptide 1B1 (OATP1B1) encoded by solute carrier organic transporter 1B1 (SLCO1B1) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. Aim of this study was to investigate the frequencies of functionally significant SNPs (388A>G and 521T>C) and their haplotypes in 6 ethnic groups of ...