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1 SNP rs2227473 is located within a putative binding site
2 SNP rs2227473, in linkage disequilibrium with rs2227476,
3 SNP-SNP interaction was suggested (P<0.005) for 14 SNP p
4 SNPs in PPARG were significantly overrepresented (ranked
5 size of the SNP data set, with 25,000-50,000 SNPs required for accurate detection of population trend
6 errepresented (ranked 7-11 and 67 of 556,000 SNPs; P < 2.2 x 10(-7)), and were mostly in introns or r
8 P interaction was suggested (P<0.005) for 14 SNP pairs, none of which had shown individual associatio
11 a obesity-related traits, hsCRP, based on 16 SNPs from genes including CRP, was not associated with B
15 d nine popular prediction tools (PolyPhen-2, SNPs&GO, MutPred, SIFT, MutationTaster2, Mutation Assess
18 Sex-specific associations were seen for 3 SNPs in men (rs2468523 and rs2478544 at AGT and rs116585
20 inium SNP array and mapped a total of 29,347 SNP markers onto the reference genome of Darmor-bzh.
24 We identified 70 publications reporting 45 SNPs in 36 genes significantly associated with disease-r
26 e DeePAS was performed by correlating the 52 SNPs to all phenotypes using logistic and linear regress
27 dial infarction] and 123504 noncases), the 6 SNPs related to serum calcium levels and without pleiotr
28 previously known index SNPs at T2D loci, 66 SNPs showed consistency with the reported direction of a
31 nd a look-up evaluation of these disclosed 8 SNPs in 4 loci, with an interaction P < 0.05 in the larg
32 ltiple beta-defensin genes and containing 94 SNPs was significantly associated with fertility and fun
33 , the strongest temporal change is seen at a SNP in phosphatidylinositol 4-kinase, which is involved
39 tes by calculating the enrichment of allergy SNPs falling in gene regulatory regions in various cells
40 onally, we observed an enrichment of allergy SNPs falling within immune pathways and regions of chrom
43 ene Relationships Across Implicated Loci and SNP-SNP interaction analysis of selected gene pairs.
45 solution for rapid recovery of large STR and SNP datasets in any species without needing a reference
49 For flexibility in genotyping applications, SNPs polymorphic between tetraploid and diploid species
50 SNP rs11055880 and leukemia risk-associated SNP rs12142375-and demonstrate their endogenous regulato
55 Ls provide a link between disease-associated SNPs and the regulatory genome that will improve the fun
57 We provide evidence that the risk-associated SNPs are associated with reduced chromatin looping betwe
58 W chromosome, as well as 148 sex-associated SNPs showing significant differentiation (average FST=0.
61 literature data relative to 87,818 autosomal SNPs in 14 open populations and 10 geographic and/or lin
62 hypothesis-driven and microRNA-pathway-based SNP (miR-SNP) association study we identified a novel mi
67 ng gene, but also that the effect of certain SNPs on expression of proteins can vary with diagnosis.
68 quencing (WES) and canine high-density (cHD) SNP genotyping of 28 dogs from 3 breeds to compare the S
70 ese results indicate a functional non-coding SNP in EPHA2 promoter affects PAX2 binding and reduces E
71 mapping, we prioritized rs9349379, a common SNP in the third intron of the PHACTR1 gene, as the puta
72 improved model leads to estimates of common SNP heritability on average 43% (s.d. 3%) higher than th
74 cumulation of putative resistance-conferring SNPs, potentially in combination with specific resistanc
75 omic locus and rapidly identifying consensus SNPs with the highest deleteriousness scores making thos
77 we report the development of a high-density SNP array 'Axiom_Arachis' with 58 K SNPs and its utility
78 In this work, we developed a high-density SNP array with 690,662 unique SNPs (herein 690 K array)
79 Therefore, availability of a high-density SNP array with uniform genome coverage can advance genet
82 ring allele frequencies among many different SNPs that share similar biological functions in response
83 s4803217) were not superior to the discovery SNP rs12979860 with respect to liver inflammation or fib
87 les with Asian and European origins for five SNPs in CHRNB3 showed significant associations with ND,
88 y statistics of the associations of the five SNPs with AD were obtained from the International Genomi
90 trate an alternative approach: we looked for SNPs associated with the expression of many genes simult
97 he high beta-carotene accumulation in golden SNP melons was found to be due to a reduced further meta
101 ce that associations between GWAS-identified SNPs and prostate cancer are modified by circulating con
105 studies have reported associations of IFITM3 SNP rs12252 with severe influenza, but evidence of assoc
106 analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leu
107 d can detect all problematic SNPs, including SNPs with wrong RS ID and SNPs with mismatched probe seq
108 nk study (n=116,279) revealed 16 independent SNPs with significant Bayes factor at a 5% false discove
109 etions of genes adjacent to lead independent SNPs; and (4) analysis of gene expression in mouse osteo
111 ise selection, we identified two independent SNPs (i.e., WNT2B rs1175649 G>T and BTRC rs61873997 G>A)
113 ndary signals with previously reported index SNPs in 1000G super populations suggested that the SCN5A
115 ors with the Brassica 60 K Illumina Infinium SNP array and mapped a total of 29,347 SNP markers onto
116 arge, only a parsimonious set of influential SNPs are correlated with a particular complex trait and
118 -density SNP array 'Axiom_Arachis' with 58 K SNPs and its utility in groundnut genetic diversity stud
119 disequilibrium patterns between the 13 lead SNPs and six secondary signals with previously reported
120 ions suggested that the SCN5A and KCNE1 lead SNPs were potentially novel and population-specific.
123 le nucleotide polymorphisms (SNPs), but many SNPs have not been replicated in a separate cohort.
125 association study we identified a novel miR-SNP (rs713065) in the 3'UTR region of FZD4 gene linked w
126 s-driven and microRNA-pathway-based SNP (miR-SNP) association study we identified a novel miR-SNP (rs
130 nt studies, in order to detect complex multi-SNP-multi-QT associations, bi-multivariate techniques su
132 t, compared to stepwise conditional multiple-SNP analysis, SOJO provided better sensitivity and speci
137 anation for the observation of nonsynonymous SNPs in fnbA among clinical isolates of S. aureus that c
138 ex association signal, with additional novel SNPs modulating plasma FXI levels in both the F11 and KN
139 ibrated (average chi(2) = 1.00-1.02 for null SNPs), whereas the Armitage trend test (ATT), standard m
140 tivity sites were reported to explain 79% of SNP heritability; using our improved heritability model,
143 ere utilized to first quantify the amount of SNPs on the templates using a two-channel fluorescence m
145 notation indicated a greater contribution of SNPs in protein-coding regions and within 3'-UTR regions
148 r more difficult to find because millions of SNPs must currently be compared to thousands of transcri
149 he hotspot loci and quantified the number of SNPs and/or genes, which if accumulated would confer ful
151 le of displaying and comparing large sets of SNPs in a genomic locus and rapidly identifying consensu
152 nal FDR was estimated given its RES based on SNP prior information including linkage disequilibrium (
154 s) associated with isoleucine levels and one SNP associated with both leucine and valine levels at ge
156 formed a genome-wide scan and identified one SNP with significantly different frequencies in 5,724 su
157 s with low LLD have significantly larger per-SNP heritability and that roughly half of this effect ca
158 Across all five GBS analysis platforms, SNP calls showed unexpectedly low convergence but genera
163 analysis of single-nucleotide polymorphism (SNP) data for Spanish teosinte, sympatric populations of
164 lex PCR with single nucleotide polymorphism (SNP) detection using highly selective BiDz sensors targe
165 y included a single nucleotide polymorphism (SNP) genome-wide association study (GWAS), the selection
166 sed first on single nucleotide polymorphism (SNP) genotyping and then with whole-genome data and show
168 f a promoter single-nucleotide polymorphism (SNP) in IL32 on lipid profiles in RA patients and indivi
169 The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significa
170 s-associated single-nucleotide polymorphism (SNP) located in the intron of the long noncoding RNA (ln
171 show that a single-nucleotide polymorphism (SNP) mutation in the GL4 gene resulted in a premature st
172 f at a human single-nucleotide polymorphism (SNP) of the gene encoding the immunomodulatory receptor
173 t type (e.g. single nucleotide polymorphism (SNP) or indel) within a broader set of variants (e.g. al
174 tes per-base single nucleotide polymorphism (SNP) pathogenicity scores across relevant genomic interv
177 allele and a single-nucleotide polymorphism (SNP), are associated with diurnal preference and higher
178 Genome-wide single nucleotide polymorphism (SNP)-based haplotyping has been used to determine popula
180 owerful than single-nucleotide polymorphism (SNP)-set kernel association tests and burden tests.
181 omatic mutations, or germline polymorphisms (SNP) are associated with immune metagene expression in b
182 investigate single nucleotide polymorphisms (SNP) located in genes encoding interacting TJ proteins a
183 with a mean single nucleotide polymorphisms (SNP) rate of approximately 1 per 50 bases suggestive of
185 correlated single-nucleotide polymorphisms (SNPs) (r(2)>0.9) located in an intergenic region on chro
186 on of human single-nucleotide polymorphisms (SNPs) alter pri-miRNA processing, and confirm several pr
188 630 exonic single-nucleotide polymorphisms (SNPs) and 43 copy number variations (CNVs) with in-vitro
189 ormation of single nucleotide polymorphisms (SNPs) and combining two relevant existing tools, relativ
190 2 diabetes single nucleotide polymorphisms (SNPs) and genome-wide methylation (methylation quantitat
191 urthermore, single-nucleotide polymorphisms (SNPs) and insertions/deletions (indels) can result in al
192 of non-HLA single-nucleotide polymorphisms (SNPs) and outcomes after blood or marrow transplant (BMT
194 examine the single nucleotide polymorphisms (SNPs) associated with family history (FH) of upper gastr
195 independent single nucleotide polymorphisms (SNPs) associated with isoleucine levels and one SNP asso
196 dvantage of single-nucleotide polymorphisms (SNPs) distributed across the genome to discriminate dono
198 ate, common single-nucleotide polymorphisms (SNPs) explained between 20% and 29% of the variance in M
200 btained for single-nucleotide polymorphisms (SNPs) identified from a genome-wide association meta-ana
201 ,830 common single-nucleotide polymorphisms (SNPs) in 151 Wnt pathway autosomal genes with CM-specifi
202 informative single nucleotide polymorphisms (SNPs) in 305 individuals with Haplogroup O2a1c-002611 id
203 hip between single nucleotide polymorphisms (SNPs) in nonsteroidal anti-inflammatory drug (NSAID) met
204 NVs) due to single nucleotide polymorphisms (SNPs) in the genome, or RNA editing events within the RN
205 nts through single-nucleotide polymorphisms (SNPs) in the primary miRNA outside the mature miRNA sequ
206 known index single nucleotide polymorphisms (SNPs) indicated an additional independent signal at KCNQ
208 e 2,271,584 single nucleotide polymorphisms (SNPs) on the panel from previous studies, and genome-wid
209 pleiotropic single nucleotide polymorphisms (SNPs) possibly acting via obesity-related traits, hsCRP,
210 notyping of single nucleotide polymorphisms (SNPs) representing linkage blocks of the SLC2A14 gene.Bo
211 ion between single nucleotide polymorphisms (SNPs) rs1800544 ADRA2A (odds ratio: 1.69; confidence int
213 t of 14 559 single-nucleotide polymorphisms (SNPs) to identify the likely source population for this
214 ore whether single nucleotide polymorphisms (SNPs) were associated with functional and anthropometric
215 genome-wide single nucleotide polymorphisms (SNPs) were selected to develop a large-scale SNP genotyp
216 lopment and single nucleotide polymorphisms (SNPs), but many SNPs have not been replicated in a separ
218 associated single-nucleotide polymorphisms (SNPs), whereas the markers on the other chromosomes were
223 ielded nine single-nucleotide polymorphisms (SNPs): G-1106A, A-1018T, T-1014C, T-988G, G-513A, G-462A
224 nd two LPA single-nucleotide polymorphisms ([SNPs] rs10455872 and rs3798220) with all-cause mortality
226 manifest file and can detect all problematic SNPs, including SNPs with wrong RS ID and SNPs with mism
229 hes to determine the potential of regulatory SNPs depend on inadequate knowledge of cell-specific DNA
230 he association with the most well-replicated SNP (rs964184) for triglycerides identified by genome-wi
231 panic whites between the previously reported SNP rs1229984 in ADH1B and both alcohol consumption phen
234 h two regulatory variants-breast cancer risk SNP rs11055880 and leukemia risk-associated SNP rs121423
236 studies to date using a score of 62 RA risk SNPs (p < 5 * 10(-8)) as instrumental variable (IV).
238 d a significant association of the rs3750846 SNP at the ARMS2/HTRA1 locus with subretinal/sub-retinal
240 ly significant associations between sentinel SNPs and case-control status have been replicated by gen
243 ant SNPs for SET, and 22 and 142 significant SNPs for SDW, in glasshouse and field conditions, respec
244 The GWAS uncovered five and 32 significant SNPs for SET, and 22 and 142 significant SNPs for SDW, i
246 ific survival and then validated significant SNPs in another genome-wide association study from Harva
247 reater enrichment in genome-wide significant SNPs from the GWAS catalog, and are also more likely to
253 5), including regions of multiple supporting SNPs on chromosomes 13 (minimum p = 7.5 x 10(-7)) and 14
254 and validation of deleterious non-synonymous SNPs (nsSNPs) in the interleukin-8 gene using three step
256 3 "tag" single nucleotide polymorphisms (tag SNPs) in 367 challenge-proven food allergic cases, 199 f
261 sociated with 25(OH)D concentration, and the SNP-prostate cancer associations did not differ by these
263 at this regulation is impaired either by the SNP c.*61 T > C or by diminished levels of miR-16 and mi
264 ping of 28 dogs from 3 breeds to compare the SNP and linkage disequilibrium characteristics together
265 d chimeric probe DNA can be realized for the SNP genotyping by optimizing the operation condition and
267 stead was most influenced by the size of the SNP data set, with 25,000-50,000 SNPs required for accur
269 r allowing for multiple testing, none of the SNPs examined was significantly associated with 25(OH)D
273 We also found that the frequency of these SNPs in a cohort of healthy Dutch individuals is very lo
280 Analysis of existing data suggests that this SNP may have transcription factor regulatory functions.
281 s were genotyped for heterozygosity at three SNP sites, before phasing each SNP allele to wild-type o
282 at coding amino acids encoded at these three SNP sites were conserved evolutionarily and associated w
288 rsatile, functional pipeline and apply it to SNPs at 1p22, a locus identified in several GWAS for non
289 a high-density SNP array with 690,662 unique SNPs (herein 690 K array) that were relatively evenly di
292 TL mapping approaches were carried out using SNP markers on about half of the population only and an
294 rphisms in-silico, of which 8,967 high value SNPs were incorporated into a commercially available Ill
295 ignificance with PA (P=1.80x10(-8)), whereas SNPs associated with Src kinase-associated phosphoprotei
296 m heterozygous patients and transfected with SNP-targeted siRNA, using glucan particles taken up by p
297 to increase power to detect association with SNPs, and thus may enable improved detection of novel lo
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