Expression profiles were generated using Illumina's HWG-6 BeadChips and genotypes came from the Illumina Human HapMap 550 SNP panel. Measured genotype association analyses that accounted for non-independence of family members and employed an additive model were performed using the software package ...
We then identified all SNPs in strong linkage (r2 ≥ 0.8) with the index SNP at each locus using the 1,000 Genomes CEU data. These analyses defined discreet series of SNPs at 13 loci, which we refer to as supra-threshold RCC-associated loci. HIF-1α, HIF-2α and HIF-1β ...
In details, we dissected the expression data of this dataset in two components: the component of gene expression regulated uniquely by cis-acting alleles (eQTL SNP mapping inside 1 Mb of the gene start or end) and that depending on environmental factors. Both components were then tested for ...
High experimental validation/genotyping success rate (94-96%) and intra-specific polymorphic potential (82-96%) of 1536 SNP and 472 SSR markers showing in ... D Bajaj,HD Upadhyaya,Y Khan,... - 《Sci Rep》 被引量: 59发表: 2015年 Interacting multiple-model-based tracking of multiple point...
Women with a premutation allele are at risk of having a full mutation child with FXS. To investigate the mechanism of repeat expansion, we examined the relationship between a single-nucleotide polymorphism (SNP) variant that is linked to repeat expansion in haplogroup D and a replication origin ...
RNA was extracted from positively selected CD56+, CD8+, and CD4+ mononuclear cells and the 'residual' cells from 12 RA patients heterozygous for the PTPN22 C1858T single nucleotide polymorphism (SNP) (rs2476601). Relative allelic expression was measured by single base extension (SBE) assay. ...
We have shown that independent origin mutations (identified by intragenic SNP-based haplotypes) behave differently, as the status of instability (contraction, no change or further expansion) idoi:10.1002/ajmg.b.30624SandraMartinsPaulaCoutinhoIsabel...
\\{SNP\\}BackgroundGenome-wide association studies (GWAS) and gene expression analyses have revealed that single nucleotide polymorphisms (SNPs) associated with multifactorial diseases, such as schizophrenia, are significantly more likely to be associated with expression quantitative trait loci (eQTL). ...
However, in 97% of these cases a distal cis-acting SNP within a +/1Mbp window was found that explained the observed CpG distribution, excluding the hypothesis of epigenetic inheritance for these clear-cut trimodal sites. Using power analysis, we showed that in 46% of all cases, the closest...
In individuals who were heterozygous for this SNP, on average the G allele showed 13% overexpression compared to the T allele. Conclusions STK39 expression is modified by polymorphisms acting in cis and the typed SNPs are associated with allelic expression of this gene, but there is no evidence...