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1  HLA alleles can sometimes be secondary to a noncoding variant.
2 on the study of single-nucleotide coding and noncoding variants.
3 undreds of gene-trait associations involving noncoding variants.
4 ding the importance of testing aggregates of noncoding variants.
5 tional interpretation of clinically detected noncoding variants.
6 d HPN, each harbor 2 conditionally distinct, noncoding variants.
7 cilitated genome-wide identification of rare noncoding variants.
8 e region but identified several nonconserved noncoding variants.
9 its have mainly identified associations with noncoding variants.
10 ing annotation to predict the impact of rare noncoding variants.
11 mic annotation to predict the impact of rare noncoding variants.
12 xon-only to whole-gene analyses that contain noncoding variants.
13               We identify association with a noncoding variant 151 kb from the gene encoding the card
14 ciation studies have implicated thousands of noncoding variants across common human phenotypes.
15                      Collectively, conserved noncoding variants affect BP to a greater extent than mi
16 risk in humans, it remains unclear how these noncoding variants affect disease etiology.
17                                Whether these noncoding variants affect expression of TBX3 or neighbor
18     These findings provide insights into how noncoding variants affect the transcriptomes of two T-ce
19 e of coronary artery disease is dominated by noncoding variants among which many occur within putativ
20 in with sequencing to facilitate CWAS-guided noncoding variant analysis at cell-type-specific enhance
21 ry-wide association testing (CWAS), enhances noncoding variant analysis by integrating both whole-gen
22 analysis of regulatory elements that contain noncoding variants and also are differentially open betw
23  interpreting the functional consequences of noncoding variants and distinguishing those that contrib
24 ment of tools and methods to identify causal noncoding variants and evaluate their regulatory effects
25 ically test hypotheses about the function of noncoding variants and haplotypes at the scale needed fo
26 scuss several leading methods for annotating noncoding variants and how they can be integrated into r
27 f alternative mutational mechanisms, such as noncoding variants and non-X-linked disease, which might
28 der may be influenced by myriad small-effect noncoding variants and/or by rare but severe coding vari
29  all classes of genetic variation (including noncoding variants) and accompanying phenotypes, in appa
30 of the genome may be incomplete because many noncoding variants are associated with disease.
31 nts shows that geographically differentiated noncoding variants are associated with parasite invasion
32                                       The 51 noncoding variants are enriched in regulatory features i
33            These results highlight that rare noncoding variants are important contributors to individ
34 ation between cell-level brain pathology and noncoding variants are lacking.
35                              Thus, conserved noncoding variants are more likely to be functional.
36 pleiotropic effects across multiple tissues, noncoding variants are thought to mediate their phenotyp
37  meta-analysis dataset to unravel functional noncoding variants associated with ALS based on their ep
38 ide association studies have identified many noncoding variants associated with common diseases and t
39 an cCREs and to systematically interpret the noncoding variants associated with complex human traits
40 ies of gene regulation and interpretation of noncoding variants associated with human disease.
41 ciation studies have identified thousands of noncoding variants associated with human traits and dise
42  best available methods in identifying human noncoding variants associated with inherited diseases.
43 ly complementary ways to study the impact of noncoding variants associated with psychiatric diseases.
44                        Here we map inherited noncoding variants associated with treatment outcome and
45 's disease WGS data, CWAS-Plus detected rare noncoding variant associations in microglia-specific reg
46 ary artery disease, with the putative causal noncoding variant at the rs9349379 locus acting as a pot
47 rst example of a functionally validated rare noncoding variant at the SCN5A locus and highlights how
48   However, in the general population, common noncoding variants at a chromosome 1q locus are the most
49                                              Noncoding variants at human chromosome 9p21 near CDKN2A
50 ed with genome-wide significance linked with noncoding variants at the PRSS1-PRSS2 locus on chromosom
51 from Thailand was performed to identify rare noncoding variants at the SCN5A-SCN10A locus that were e
52 tral to type 2 (T2) inflammation, and common noncoding variants at the STAT6 locus associate with var
53 oding the Na(v)1.5 sodium channel and common noncoding variants at this locus are robustly associated
54  analysis, STAARpipeline uses STAAR to group noncoding variants based on functional categories of gen
55 or elucidating the tissue-specific impact of noncoding variants but also underscores the breakthrough
56 AVA), a tool that supports prioritization of noncoding variants by integrating various genomic and ep
57      However, assessing the pathogenicity of noncoding variants can be challenging.
58 nt hypothesis offers a new paradigm by which noncoding variants can confer susceptibility to common t
59 DFNB39 However, the mechanism by which these noncoding variants causes deafness was unknown.
60                    We describe a set of rare noncoding variants conferring significant risk for indiv
61                             A total of 2,221 noncoding variants connected to risk for ten neuropsychi
62 for a distinct mechanism by which a germline noncoding variant contributes to oncogene activation, ep
63 rofiling the functional consequences of rare noncoding variants detected in a cohort of undiagnosed r
64    They prove to be excellent predictors for noncoding variant effects in gene expression and pathoge
65 ce and 3D chromatin structure for predicting noncoding variant effects.
66 y, the model transforms our understanding of noncoding-variant effects, revealing how single nucleoti
67 tly alter gene expression: most (88.3%) were noncoding variants enriched at enhancers and other regul
68                                              Noncoding variants, epigenetic and environmental factors
69              VAAST can score both coding and noncoding variants, evaluating the cumulative impact of
70 luded Japanese-specific coding, splicing and noncoding variants, exemplified by a damaging missense v
71 overy and provide insights into relevance of noncoding variants for cell-specific gene regulation and
72 licability of this tool to the annotation of noncoding variants from 69 full sequenced genomes as wel
73 Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes r
74 c enhancer-gene maps, essential for defining noncoding variant function.
75 tic code, but determining the impact of rare noncoding variants has been more challenging.
76 approaches for functional assessment of most noncoding variants has bottlenecked gene discovery.
77 h analytical and empirical prioritization of noncoding variants have enabled the identification of ca
78                   This may help to interpret noncoding variants identified by genome-wide association
79 ns can help prioritize functionally relevant noncoding variants identified by GWAS.
80 ogies bring new challenges, as the number of noncoding variants identified per individual can be over
81 , quantifying the pathogenic contribution of noncoding variants impacting RBP target sites is challen
82 an intron of PAX5 (rs147081110), and another noncoding variant in an intron of GATA3 (rs3824666).
83 d region variant in KLHDC8B (rs387906223), a noncoding variant in an intron of PAX5 (rs147081110), an
84                                       A rare noncoding variant in an SCN5A intronic enhancer region w
85 identified a previously unrecognized common, noncoding variant in CFH, the gene encoding complement f
86 ssociation peak we found was at rs3129882, a noncoding variant in HLA-DRA.
87                                              Noncoding variants in 5-hydroxytryptamine (serotonin) re
88                             In addition, 138 noncoding variants in 50 unique genes are assayed across
89 Finally, we genotyped 37 missense and common noncoding variants in 6591 EAs and in 6521 individuals (
90 p23,(1,2) we observed that six coding and 51 noncoding variants in a gene that encodes the GTPase-act
91 F3B1)-dependent missplicing, and to evaluate noncoding variants in a stimulation-dependent immune enh
92 ) has provided a systematic means of linking noncoding variants in active enhancer loci to putative g
93 the list of genes likely to be influenced by noncoding variants in AD and suggest the probable cell t
94  association between influenza infection and noncoding variants in B3GALT5 and ST6GAL1, neither of wh
95  of the target genes and mechanisms of human noncoding variants in both cis and trans.
96              Furthermore, we identified rare noncoding variants in both cohorts that were predicted t
97 putational method for discovering regulatory noncoding variants in cancer by integrating whole-genome
98 investigated for the inclusion of coding and noncoding variants in disease genes.
99                                   In humans, noncoding variants in HGF are associated with nonsyndrom
100    Despite accumulating evidence implicating noncoding variants in human diseases, unraveling their f
101 ource for investigating the pathogenicity of noncoding variants in human erythroid disorders.
102 e combined evidence of association with rare noncoding variants in IL12RB1 remained significant (p =
103 s, cis-X enables the discovery of regulatory noncoding variants in individual cancer genomes.
104 lluminates the potential functional roles of noncoding variants in malaria parasites.
105 d both somatic loss-of-function and germline noncoding variants in mtDNA linked to heteroplasmy-depen
106 unctional interpretation of potential causal noncoding variants in post-GWAS analyses.
107 c approach to interpret phenotype-associated noncoding variants in proper cell types and relevant dyn
108 thma susceptibility was predominantly due to noncoding variants in sequences flanking the exons, alth
109                         Two hundred fourteen noncoding variants in strong linkage disequilibrium (r(2
110 y the genetic effect of coding and conserved noncoding variants in syndromic hypertension genes on sy
111 hat human deafness DFNB39 is associated with noncoding variants in the 3'UTR of a short isoform of HG
112  enabling integrative analyses of regulatory noncoding variants in the context of large population-le
113 bled the discovery of potentially pathogenic noncoding variants in the genomes of rare disease patien
114 e deleted the orthologue of an RE containing noncoding variants in the Hcn4 (potassium/sodium hyperpo
115 of 270 human transcription factors to 95,886 noncoding variants in the human genome using an ultra-hi
116                                              Noncoding variants in the human MIR137 gene locus increa
117 ns of mixed European descent have identified noncoding variants in the MYLIP region as being associat
118 s support the regulatory roles for inherited noncoding variants in the pathogenesis of CLL.
119 pectrum disorder (ASD) detected from de novo noncoding variants in the Simons Simplex Collection (SSC
120                             Recently, common noncoding variants in the TCF7L2 gene were strongly asso
121      In this study, we functionally analyzed noncoding variants in this gene as likely pathological c
122        Transcriptional regulation effects of noncoding variants in this unusual genome of malaria par
123                                              Noncoding variants increase neuropsychiatric disease ris
124 tructure may explain the mechanisms by which noncoding variants increase susceptibility to cardiac ar
125              This study investigates whether noncoding variants influencing FcgammaR expression are a
126 cing data and the difficulty of categorizing noncoding variants into functionally similar groups.
127            Identifying functional effects of noncoding variants is a major challenge in human genetic
128 logy and disease, but recognizing functional noncoding variants is difficult.
129 standing the functions of disease-associated noncoding variants is essential for understanding the mo
130  Understanding the functional consequence of noncoding variants is of great interest.
131 chromosome X, pseudo-autosomal region (PAR), noncoding variant located between cytokine receptor gene
132                           We identified rare noncoding variants located in cis-regulatory elements sp
133                We have shown previously that noncoding variants mapping around a specific set of 170
134 es, such as posterior urethral valves (PUV), noncoding variants may influence susceptibility.
135 sity; however, it is still unclear how those noncoding variants mechanistically affect whole-body phy
136 ng a missense variant in the APOE gene and a noncoding variant near EFN1A.
137 ome-wide association studies have identified noncoding variants near TBX3 that are associated with PR
138 rols) and conferred a much greater risk than noncoding variants (odds ratio, 10.02; 95% CI, 6.45 to 1
139                                              Noncoding variants of presumed regulatory function contr
140 of a number of leukemias, although inherited noncoding variants of the MYB gene are a susceptibility
141                                 We find that noncoding variants of unexpected high similarity in epig
142 he current methods to predict the effects of noncoding variants on transcription factor binding.
143 ata to estimate and visualize the effects of noncoding variants on transcription factor binding.
144 iation signal between fasting proinsulin and noncoding variants (p = 7.4 x 10(-50)).
145 s provides an effective strategy to identify noncoding variant pairs associated with pathogenic genes
146        Modulation of gene expression through noncoding variants, particularly within cortico-striatal
147 ulation and deleteriousness scores to select noncoding variants pertinent for association with blood-
148                                              Noncoding variants play a central role in the genetics o
149 included 16 missense, one splice site, and 3 noncoding variants predicted to disrupt canonical transc
150 r the last decade for identifying functional noncoding variants, predicting gene expression impacts,
151 genome than coding exons; nevertheless, most noncoding variant prioritization methods only focus on t
152 tional approaches developed for prioritizing noncoding variants produce inconsistent and even conflic
153 study identified a single locus harboring 25 noncoding variants (r(2) > 0.7 with the lead GWAS varian
154 dy, Hirschsprung's disease arose from common noncoding variants, rare coding variants, and copy-numbe
155  available for exploration, the selection of noncoding variants remains a critical yet unresolved cha
156 y responses based on a protein-coding versus noncoding variants, respectively.
157                   This approach identified a noncoding variant, rs1990620, that differentially recrui
158                                    The GATA3 noncoding variant rs3824662 has been implicated in the p
159                                     Two ACE2 noncoding variants (rs4646118 and rs143185769) present i
160 nt, rs699738 (c.798C>A [p.His266Gln]), and a noncoding variant, rs624988, reside on distinct haplotyp
161  TCF7L2 (transcription factor 7-like 2 gene) noncoding variant (rs7903146 T at-risk allele) was stron
162 rrant splicing in DONSON due to one of these noncoding variants, showing a causative role for DONSON
163 bases and functional annotations to identify noncoding variants, specifically rs1771575, rs2099684, a
164     Despite the importance suggested by many noncoding variants statistically associated with human d
165  we mechanistically dissect a VCM-modulating noncoding variant that is associated with reduced chroni
166                                              Noncoding variants that affect splicing are recurrent an
167 t this approach successfully identifies rare noncoding variants that alter the regulatory capacity of
168 This work nominates these thousands of rare, noncoding variants that disrupt CTCF binding for further
169 the existence of a large complement of human noncoding variants that may impact gene expression and p
170                  It then searches for causal noncoding variants that may introduce aberrant transcrip
171 n R1467H in ARHGEF11, and several additional noncoding variants that were in high linkage disequilibr
172  understanding of the contribution of common noncoding variants to leprosy susceptibility, protein-co
173 r disease risk variants, linking hundreds of noncoding variants to putative gene targets.
174  than other regulatory methods at connecting noncoding variants to target genes.
175                                        These noncoding variants together significantly contributed to
176  identification of the genes dysregulated by noncoding variants typically driving GWAS discoveries ha
177 tifying transcription factor (TF) binding to noncoding variants, uncharacterized DNA motifs, and repe
178 a powerful tool for investigating coding and noncoding variants, uncovering combinatorial sequence-to
179 and implicated multiple ancestry-informative noncoding variants upstream of SMAD2 with asthma suscept
180 rformed for the identification of coding and noncoding variants using linkage and filtering approache
181 10 bp deletion recapitulating a human DFNB39 noncoding variant, we demonstrate that neural crest cell
182 es that are found to be mainly influenced by noncoding variants, we found protein expression level te
183           However, on pooling all coding and noncoding variants, we identified at least 5 loci (AGT,
184 linemia in Pima Indians, missense and common noncoding variants were analyzed in individuals living i
185               Novel, potentially pathogenic, noncoding variants were identified in 16 of 42 patients
186                              Putative causal noncoding variants were supported by state-of-art in sil
187 l as putative regulatory mechanisms for rare noncoding variants with cell type-specific effects.
188       Using SDR-seq, we associate coding and noncoding variants with distinct gene expression in huma
189 hough the molecular mechanisms linking these noncoding variants with obesity are not immediately obvi
190 over the first functional evidence of common noncoding variants with potential implications for the p
191 for post-GWAS analyses is to identify causal noncoding variants with regulatory function.
192     Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal reg
193 nabling accurate determination of coding and noncoding variant zygosity alongside associated gene exp

 
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