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1 eQTLs and eGenes provide great supporting evidence for G
4 We identified cis-acting and trans-acting eQTL for key immune and metabolic response genes and sep
5 portion of genetic variance explained by all eQTL (hCOJO(2)) was 31% (0.060/0.192), meaning that 69%
6 candidate gene identified by GWAS is also an eQTL or eGene, there is strong evidence to further study
12 visualization for linkage disequilibrium and eQTL data, and an ontology search for phenotypes, traits
13 us (SLE) through the integration of GWAS and eQTL data from the TwinsUK microarray and RNA-Seq cohort
14 plex-disease susceptibility loci by GWAS and eQTL integration have predominantly employed microarrays
16 p a framework for the integration of PPI and eQTL into a heterogenous network model, enabling efficie
17 tified novel associations between asthma and eQTLs for 4 genes related to nucleotide synthesis/signal
18 ve maps of cis-acting hippocampal meQTLs and eQTLs provide a link between disease-associated SNPs and
19 Cis-acting SNPs of hippocampal meQTLs and eQTLs significantly overlap schizophrenia-associated SNP
21 he number of GWAS catalog SNPs identified as eQTL in the conditional analyses increases with 24% as c
22 e-based information, ENCODE ChIP-seq assays, eQTL, population haplotype, functional prediction across
24 and guidelines for estimating aFC from both eQTL and allelic expression data sets and apply it to Ge
25 functional annotation data, especially brain eQTL, methylation QTL, brain expression featured in deep
28 ico functional analyses for these 11 SNPs by eQTL analysis, two of which, PTPN2 SNPs rs2847297 and rs
29 these, for 37, the association was driven by eQTLs located in established risk loci for allergic dise
31 d the greatest frequency of candidate-causal eQTLs using exon-level RNA-Seq, and identified novel SLE
32 analysis showed that 35% of genes with a cis eQTL have at least two independent cis eQTLs; for severa
36 a cis eQTL have at least two independent cis eQTLs; for several genes up to 13 independent cis eQTLs
40 c curve (AUC) of 0.807, and discriminate cis-eQTL SNVs shared across six populations of different anc
43 ting expression quantitative trait loci (cis-eQTL) has become a popular approach for characterizing p
45 cis expression quantitative trait locus (cis-eQTL) for SLC2A2 in 1,226 human liver samples, suggestin
46 cis-expression quantitative trait locus (cis-eQTL) variants in linkage disequilibrium with the index
48 We have performed the first genome-wide cis-eQTL analysis of human hippocampal tissue to include not
51 variants are difficult to identify, and cis-eQTLs occur frequently, it remains challenging to identi
52 lic traits, we identified 140 coincident cis-eQTLs at 109 GWAS loci, including 93 eQTLs not previousl
55 We detected over 19,000 independent lead cis-eQTLs and over 6000 independent lead trans-eQTLs, target
58 cis-expression quantitative trait loci (cis-eQTLs) using a set of 92 genomic annotations as predicti
60 unit for quantifying the effect size of cis-eQTLs and a mathematically convenient approach for syste
61 other diverse tissue types revealed that cis-eQTLs for islet-specific genes are specifically and sign
62 We also identified copy-number variant (CNV) eQTLs, including some that appear to affect gene express
63 r studies, and two loci exhibited coincident eQTLs (P < 1 x 10-5) in subcutaneous adipose tissue for
68 ronger enrichment for response than constant eQTLs in GWAS signals of several autoimmune diseases.
72 systematically identified context-dependent eQTLs using a hypothesis-free strategy that does not req
73 We show that our RA patient cohort derived eQTL network is more informative for studying RA than th
76 sion remain unclear, particularly for distal eQTLs, which these studies are not well powered to detec
78 Distant eQTL formed 125 significant distant eQTL hotspots with their targets significantly enriched
82 re significantly more enriched with epilepsy-eQTLs than with normal hippocampal eQTLs from two larger
91 we introduce a new haplotype-based test for eQTL studies that looks for haplotypic effects on expres
93 hat aFC estimates independently derived from eQTL and allelic expression data are highly consistent,
94 n genome-wide analyses impact a single gene, eQTL that impact many genes are particularly valuable fo
95 e of RNA-Seq and performing integrative GWAS-eQTL analysis against gene, exon, and splice-junction qu
100 al adult human brains, our method identifies eQTLs that were undetected using standard tissue-by-tiss
101 same confounding factor methods to identify eQTL that replicate between matched twin pair datasets i
102 ank), which provides an easy way to identify eQTLs that are associated with the conditional quantile
105 d genetic and genomic data set through iFORM/eQTL gain new discoveries on the genetic origin of gene
106 to identify and replicate a few broad impact eQTL although the overall number was small even when app
108 ower of the analysis or produce broad impact eQTL false positives, and the tendency of methods that a
110 f these results, we discuss the broad impact eQTL that have been previously reported from the analysi
111 tify variation likely caused by broad impact eQTL when constructing the sample covariance matrix used
112 able the identification of such broad impact eQTL, we introduce CONFETI: Confounding Factor Estimatio
113 cting issues when searching for broad impact eQTL: the need to account for non-genetic confounding fa
114 s for association mapping is able to improve eQTL mapping accuracy, and inferring individual and grou
116 tecting significant genes (called eGenes) in eQTL studies and analyzing the effect sizes of cis-SNPs
118 of all loci with identified AH is 4%-23% in eQTLs, 35% in GWASs of high-density lipoprotein (HDL), a
119 tic variant and were primarily identified in eQTLs derived from pathophysiologically relevant tissues
120 both cis- and trans-eQTLs; (3) incorporates eQTLs identified in different tissues; and (4) uses simu
124 issing, with the sentinel SNP of the largest eQTL explaining 87% (0.052/0.060) of the variance attrib
125 s) with WGS and RNA-seq, and found that lead eQTL variants called with WGS were more likely to be cau
127 apping studies routinely identify many local eQTLs, the molecular mechanisms by which genetic variant
129 screen a physical region for specific local eQTLs that could harbour candidate genes for phenotypic
133 Using expression quantitative trait loci (eQTL) analysis, we found that the C7 rs6876739 CC genoty
134 ,587 cis-expression quantitative trait loci (eQTL) and 6,695 trans-eQTL associated with the 433 signi
136 to both expression quantitative trait loci (eQTL) and genome-wide association study (GWAS) signals.
138 ependent expression quantitative trait loci (eQTL) by using linear mixed models to perform genome-wid
139 ysis and expression quantitative trait loci (eQTL) data showed that this locus contributes to MICALL2
141 h as for expression quantitative trait loci (eQTL) detection, require perfect matching between both d
142 d 25 660 expression quantitative trait loci (eQTL) for 17 311 genes, capturing an unprecedented range
143 udies of expression quantitative trait loci (eQTL) have shown that regulatory variants play a crucial
144 udies of expression quantitative trait loci (eQTL) indicate that genetic variation frequently alters
145 such as expression quantitative trait loci (eQTL) or Hi-C genome conformation data and reports the m
146 ify 5311 expression quantitative trait loci (eQTL) regulating the expression of 4105 genes, including
147 ome-wide expression Quantitative Trait Loci (eQTL) studies in humans have provided numerous insights
149 entioned expression quantitative trait loci (eQTL) using a statistically disciplined approach that jo
150 ation of expression quantitative trait loci (eQTL), the genetic determinants of variation in gene exp
151 Mapping expression quantitative trait loci (eQTL), we identify 417 response eQTLs (reQTLs) with vary
152 rlapping expression quantitative trait loci (eQTL)-associated single nucleotide polymorphisms of mess
154 AA1755), expression quantitative trait loci (eQTLs) (influencing GNG11, RGS6 and NEO1), or are locate
156 d 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs
158 ncluding expression quantitative trait loci (eQTLs) and DNase I sensitivity quantitative trait loci (
159 tissue, expression quantitative trait loci (eQTLs) are genetic variants associated with gene express
162 nd trans expression Quantitative Trait Loci (eQTLs) demonstrating 2 trans eQTL 'hotspots' associated
163 udies of expression quantitative trait loci (eQTLs) from a broad range of tissues by using a Mendelia
165 of known expression quantitative trait loci (eQTLs) impact expression of local genes (cis-eQTLs).
166 pped cis expression quantitative trait loci (eQTLs) in 13 tissues via joint analysis of SVs, single-n
168 files to expression quantitative trait loci (eQTLs) in a wide range of human tissues/cell types, we i
169 coded by expression quantitative trait loci (eQTLs) is a key to construct the genotype-phenotype map
170 k across expression quantitative trait loci (eQTLs) of a gene and use this approach to identify asthm
171 lysis of expression Quantitative Trait Loci (eQTLs) provides modest support for altered regulation of
172 pping of expression quantitative trait loci (eQTLs) revealed that genetic factors had a stronger effe
173 e to map expression quantitative trait loci (eQTLs) that affect the expression of individual genes.
174 or these expression quantitative trait loci (eQTLs) that disrupt transcription factor binding and val
175 pping of expression quantitative trait loci (eQTLs) with WGS and RNA-seq, and found that lead eQTL va
176 ne, i.e. expression quantitative trait loci (eQTLs), can help us understand how genetic variants infl
178 known as expression quantitative trait loci (eQTLs), may improve understanding of the functional role
179 ks using expression quantitative trait loci (eQTLs), methylation quantitative trait loci (meQTLs), ch
180 s act as expression quantitative trait loci (eQTLs), suggesting that modulation of transcript abundan
181 iched in expression quantitative trait loci (eQTLs), thus suggesting that most risk variants alter ge
185 apped as expression quantitative trait loci (eQTLs); however, a major limitation of eQTLs is their lo
186 rformed expression quantitative trait locus (eQTL) analyses by using abdominal subcutaneous adipose t
187 Using expression quantitative trait locus (eQTL) analyses, we constructed bipartite networks in whi
188 Gene expression quantitative trait locus (eQTL) analysis in 1,425 normal lung tissue samples highl
191 WAS and expression quantitative trait locus (eQTL) data with RNA-seq data from the RISK study, an inc
192 4 as an expression quantitative trait locus (eQTL) for IFITM3, with the risk allele associated with l
194 for whole blood, which can be used to lookup eQTLs more accurately than in standard unconditional who
202 nts the existing methods, and identifies new eQTLs with heterogeneous effects across different quanti
203 the expression of 4105 genes, including nine eQTLs regulating genes associated with flavonoid biosynt
204 E scores discriminate cis-eQTL SNVs from non-eQTL SNVs in the training set with a cross-validated are
211 estimated that SVs are causal at 3.5-6.8% of eQTLs-a substantially higher fraction than prior estimat
212 loci (eQTLs); however, a major limitation of eQTLs is their low resolution, which precludes investiga
213 tial to discover a more comprehensive set of eQTLs and illuminate the underlying molecular consequenc
214 t that determines the nature and strength of eQTLs may help identify cell types relevant to pathophys
216 that most haplotypes associated with GWAS or eQTL phenotypes are located outside of DNase-seq footpri
217 own as expression quantitative trait loci or eQTLs) is important in unravelling the genetic basis of
220 at rs715212 may influence AREG expression (P eQTL = 0.035), although further functional studies are n
221 attributed to the presence of 'third-party' eQTLs that influence the gene expression mean in a fract
223 clinical strains-which allowed us to perform eQTL mapping with 50-fold higher resolution than previou
226 Finally, our results suggest the placental eQTLs may mediate the function of GWAS loci on postnatal
227 nstrate it by analyzing the cross-population eQTL data from the GEUVADIS project and the multi-tissue
232 ntegration with genome-wide expression QTLs (eQTLs) from the same BC population identified ceruloplas
235 lts demonstrate the power of high-resolution eQTL mapping in understanding the molecular mechanisms o
237 trait loci (eQTL), we identify 417 response eQTLs (reQTLs) with varying effects between conditions.
241 sible loci and identify a set of significant eQTLs modulating differentiation and function of gene ex
242 atalog contains more genome-wide significant eQTLs per sample than comparable human resources and ide
243 s) at any genomic loci, including GWAS SNPs, eQTLs and cis-regulatory elements, facilitating the unde
245 ing applications of transcriptomics to study eQTLs, B and T cell repertoire diversity, and isoform us
247 rait locus (eQTL) analysis showed suggestive eQTL signals at rs1446669, rs699664 and rs1078004 for CA
250 lated cardiomyopathy phenotype we found that eQTL variants are also enriched for dilated cardiomyopat
251 relevance of these genes is supported by the eQTL analyses and co-expression of PTTG1lP with vimentin
258 nd computational analyses revealed that this eQTL is linked to an unannotated alternate MFN2 start si
259 sis is superior to normal hippocampal tissue eQTL analyses for identifying the variants and genes und
264 ive Trait Loci (eQTLs) demonstrating 2 trans eQTL 'hotspots' associated with expression of hundreds o
265 polyTE loci correspond to both cis and trans eQTL, and their regulatory effects are directly related
267 antitative trait loci (eQTL) and 6,695 trans-eQTL associated with the 433 significant insulin-associa
269 analyses identified both cis-eQTL and trans-eQTL impacting individual genes, and CONFETI had better
273 tion testing suggested that for 35% of trans-eQTL-trans-eGene pairs in different chromosomes and 90%
274 n and between populations and a strong trans-eQTL hotspot at TLR1 that decreases expression of pro-in
278 tatistics; (2) considers both cis- and trans-eQTLs; (3) incorporates eQTLs identified in different ti
280 articular, how genetic variants (i.e., trans-eQTLs) affect expression of remote genes (i.e., trans-eG
282 s-eQTLs and over 6000 independent lead trans-eQTLs, targeting over 10,000 gene targets (eGenes), with
283 ultaneously and found that hundreds of trans-eQTLs each affect hundreds of transcripts in lymphoblast
284 ranscripts of a high-confidence set of trans-eQTLs encode proteins that interact more frequently than
285 tify 59 distinct blocks or clusters of trans-eQTLs, each targeting the expression of sets of six to 2
286 ranscripts that are "cis-mediators" of trans-eQTLs, including those "cis-hubs" involved in regulation
288 cting local, cis-eQTLs is now routine, trans-eQTLs, which are distant from the genes of origin, are f
292 gests biological mechanisms underlying trans-eQTLs, both of which are relevant for understanding susc
293 498 genes) was enriched for genes with trans-eQTLs in hotspots coinciding with GLS resistance QTLs on
294 Y-s module was enriched for genes with trans-eQTLs in hotspots on chromosomes 9 and 10, which also co
295 Ex and show that in nearly all cases the two eQTLs act independently in regulating gene expression.
296 We generalize aFC to analyze genes with two eQTLs in GTEx and show that in nearly all cases the two
300 ther combined DXME gene expression data with eQTL data from the GTEx project and with allele frequenc
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