Articles tagged with Single Nucleotide Polymorphisms
A whole-genome study at Johns Hopkins reveals a new gene, NOS1AP, associated with abnormal heart rhythm and increased risk of sudden cardiac death. Approximately 60% of European descent individuals carry a variant of this gene linked to QT interval length.
Nanosphere's nanoparticle-based technology allows for rapid and highly-sensitive single nucleotide polymorphism genotyping without gene amplification. The technology can detect a specific gene and its mutation extent with greater than 99 percent confidence threshold.
The new center will provide tools for SNP selection, discovery, and analysis, enabling researchers to identify genetic markers associated with diseases. The center aims to make this capability accessible to many biomedical researchers, leading to a better understanding of human genetic variation and its association with disease.
Researchers discovered a genetic marker, PTPN22, associated with a two-fold increased risk of rheumatoid arthritis. The variant impairs immune regulation, leading to hyperresponsiveness and inflammation.
A study found that a single nucleotide polymorphism in the CD24 gene is associated with an increased risk of developing multiple sclerosis. The research suggests that the protein encoded by this gene may be a valuable target for new drugs to treat the disease.
The HapMap project aims to chart genetic variation within the human genome by comparing differences among individuals. Researchers hope to create a tool to detect genetic contributions to many diseases, improving drug design and diagnostic tools.
SEQUENOM successfully validated the largest collection of gene-based SNPs to date, identifying 3,148 previously unknown SNPs. The company's MassARRAY system enabled rapid and high precision SNP allele frequency determination in pooled DNA samples.
A study published in the journal AIDS identifies a genetic risk factor for HIV infection, specifically a variation in the RANTES gene that increases susceptibility but also slows down disease progression. Researchers found that this SNP is associated with up to twice the risk of HIV infection and takes about 40% longer to develop AIDS.
A team of scientists has developed a method to identify common human single nucleotide polymorphisms (SNPs) located in active genes. By comparing sequences from cDNA libraries across 50 individuals, they found 201 coding SNPs that could provide valuable insights into genetic differences between people.