SNP Sequencing
Singles, seeking meaningful relationships: Genome-wide SNP genotyping
After several years of anticipation, single nucleotide polymorphisms (SNPs) are now rapidly evolving into an important tool for genetic association experiments. Two key developments that have enabled effective genome-wide SNP (GW-SNP) association studies are the International HapMap Project and the emergence of high-throughput SNP genotyping technologies capable of analysing more than 100,000 SNPs in a single experiment. In the October issue of PLoS Genetics, Raphael Gibbs and Andrew Singleton, both with the NIH National Institute on Aging, provide an overview of GW-SNP genotyping and outline the potential of this approach for several areas of genomic research, in addition to its uses in simple association testing. [More]
SNPing genomic instability in the bud: SNP-based karyotyping of human stem cells
Human embryonic stem cells (hESC) represent a valuable resource for stem cell research and for the development of stem cell-based therapies. With only a limited number of available lines and stringent criteria for the development of new ones, hESC need to be carefully maintained and constantly monitored to prevent the accumulation of deleterious alterations, even under optimal cell culture conditions. In the August issue of BMC Biology, Richard Josephson and colleagues of the ATCC Stem Cell Center describe a molecular scheme to characterise stem cells that includes genotyping with SNP arrays to determine chromosomal number and integrity. [More]
Teaching SNPs how to fly: Typing SNPs using MALDI-TOF mass spectrometry
It has already been over ten years since the first successful analysis of DNA using MALDI-TOF (matrix-assisted laser desorption ionisation time of flight) mass spectrometry. In the meantime MALDI-TOF MS has become one of several available methods for the analysis of single nucleotide polymorphisms (SNPs), in addition to assays based on microarrays and beads. In a recent review in PLoS Genetics, Jiannis Ragoussis and colleagues of the Wellcome Trust Centre for Human Genetics in Oxford outline the uses of MALDI-TOF MS in genomics research, and include an insightful description the applicability of this method to SNP analysis. [More]
