Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “SNPs”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 451 records · Page 25Linked to original sources

Sampling SNPs.

Explore the source record for details and available documents.

Alleles↗

Systems biology of SNPs.

Genome-scale networks can now be reconstructed based on high-throughput data sets. Mathematical analyses of these networks are used to compute their candidate functional or phenotypic states. Analysis of functional states of networks shows that the activity of biochemical reactions can be highly correlated in physiological states, forming so-called co-sets representing functional modules of the network. Thus, detrimental sequence defects in any one of the genes encoding members of a co-set can result in similar phenotypic consequences. Here we show that causal single nucleotide polymorphisms in genes encoding mitochondrial components can be classified and correlated using co-sets.

Humans↗

Duplicating SNPs.

Explore the source record for details and available documents.

Genetic Markers↗

A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.

In this study we report convincing statistical support for a sixth type 1 diabetes (T1D) locus in the innate immunity viral RNA receptor gene region IFIH1 (also known as mda-5 or Helicard) on chromosome 2q24.3. We found the association in an interim analysis of a genome-wide nonsynonymous SNP (nsSNP) scan, and we validated it in a case-control collection and replicated it in an independent family collection. In 4,253 cases, 5,842 controls and 2,134 parent-child trio genotypes, the risk ratio for the minor allele of the nsSNP rs1990760 A --> G (A946T) was 0.86 (95% confidence interval = 0.82-0.90) at P = 1.42 x 10(-10).

Chromosomes, Human, Pair 2↗