ライフサイエンスコーパス: genetic variant

1 AS data to begin elucidating the function of genetic variants.

2 post hoc identification of the contributing genetic variants.

3 duals from Puerto Rico, analyzing 14 million genetic variants.

4 free interval, tumor molecular features, and genetic variants.

5 s (GWAS) have identified 18 HbA1c-associated genetic variants.

6 nal and selective features of the underlying genetic variants.

7 -related behaviors relevant to human CACNA1C genetic variants.

8 nctional impact of disease-related noncoding genetic variants.

9 tatistically correct for testing millions of genetic variants.

10 ntifying genomic regions enriched for causal genetic variants.

11 portance of screening 2 or more adenomas for genetic variants.

12 oorly controlled hypertension, and heritable genetic variants.

13 disease requires accurate interpretation of genetic variants.

14 effects of smoking on risk for IBD depend on genetic variants.

15 whose expression levels are associated with genetic variants.

16 A2-IR differed by B-vitamin intake and AS3MT genetics variants.

17 t analyses suggested that many AF-associated genetic variants act through a mechanism of impaired mus

18 amin D concentrations, and vitamin D pathway genetic variants, adjusting for years in education.

19 These results raise the possibility that genetic variants affect behavioral drive (i.e., motivati

20 It depends on the number of genetic variants affecting a trait, their frequencies in

21 Genetic variants affecting gene-expression levels are a

22 FC is implicated in both these processes and genetic variants affecting its neurotransmission might c

23 t site (TSS) usage, identifying thousands of genetic variants affecting transcript levels (strength)

24 this lexicon of how common trait-associated genetic variants alter gene expression in various tissue

25 the association between the rs1440581 PPM1K genetic variant and glucose-metabolism traits during wei

26 These genes were often not closest to the genetic variant and were primarily identified in eQTLs d

27 ase status when testing associations between genetic variants and a disease-associated trait.

28 ve detecting association between millions of genetic variants and a trait, which typically use univar

29 med genome-wide interaction analyses between genetic variants and age, sex, hypertension, and body ma

30 to detect the effective associations between genetic variants and brain imaging data at one time-poin

31 nalysis provides increased power to discover genetic variants and could elucidate shared molecular ge

32 s represent significant associations between genetic variants and gene expression levels and found th

33 gether, we have identified an association of genetic variants and genes in the RTK/ERK pathway with p

34 Association between Alzheimer disease and genetic variants and genes was measured using logistic r

35 usly reported associations between candidate genetic variants and ICS response (DeltaFEV1) in patient

36 sual to investigate the associations between genetic variants and metabolite levels.

37 paper describes the effects of immune genes genetic variants and mRNA expression on depression's ris

38 ng-by-sequencing (GBS), a method to identify genetic variants and quickly genotype samples, reduces g

39 , but also between the immune effects of the genetic variants and the resulting effects on depression

40 However, only considering genetic variants and their effects on one trait ignores

41 (ie, pleiotropy) and to identify new shared genetic variants and their pathways by applying a novel

42 Identifying causal genetic variants and understanding their mechanisms of e

43 Our Java based solution loads annotated genetic variants and well phenotyped patients into a gra

44 r complex, attributable to a large number of genetic variants, and many variants functions through in

45 volving the interplay among DNA methylation, genetic variants, and metabolite levels.

46 t pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-comput

47 diction models including FLG expression, FLG genetic variants, and sex, discrimination between childr

48 heterogeneity, small effect sizes of single genetic variants, and the necessity to statistically cor

49 type traits with systems biology to annotate genetic variants, and to facilitate discovery of AD risk

50 Genetic variants annotated to the hedgehog interacting p

51 Rare genetic variants are abundant in humans and are expected

52 It is speculated that genetic variants are associated with differential respon

53 Ox40 ligand (Ox40L) locus genetic variants are associated with the risk for system

54 Loss-of-function genetic variants are frequently associated with severe c

55 entrations (IC50s), and tested whether these genetic variants are markers of treatment failure with d

56 Because genetic variants are not influenced by environmental exp

57 Common genetic variants are therefore unlikely to prove useful

58 Hundreds of genetic variants are thought to contribute to variation

59 In Mendelian randomization, genetic variants are used as unconfounded markers of exp

60 METHODS AND We used maternal genetic variants as instrumental variables (IVs) to test

61 Mendelian randomization is the use of genetic variants as instrumental variables to estimate c

62 a Mendelian randomization approach that uses genetic variants as instrumental variables to test for c

63 Mendelian randomization uses genetic variants as markers of exposures to examine caus

64 ian randomization analysis-an approach using genetic variants as the instrumental variables for both

65 of expression change associated with a given genetic variant, as a biologically interpretable unit fo

66 or renal glucose transport, suggesting that genetic variants associated with 1,5-AG influence its co

67 nstitution network to determine the range of genetic variants associated with a spectrum of vascular

68 However, assigning causality to genetic variants associated with a transcriptomic or phe

69 ome-wide association studies have identified genetic variants associated with AF populations, with th

70 l, Rusu et al. demonstrate that a cluster of genetic variants associated with an increased risk of ty

71 ociation studies have identified hundreds of genetic variants associated with blood pressure (BP), bu

72 To identify genetic variants associated with breast cancer prognosis

73 To identify genetic variants associated with challenge-proven peanut

74 great potential to enable identification of genetic variants associated with clinical phenotypes.

75 The majority of genetic variants associated with common human diseases m

76 o successfully identify tens of thousands of genetic variants associated with complex traits and dise

77 To identify novel genetic variants associated with complex traits and to s

78 Further, we show that genetic variants associated with decreased hippocampal v

79 ent and progression of AD to discover common genetic variants associated with disease vulnerability.

80 17 503 participants in PROMIS, we identified genetic variants associated with either apolipoprotein(a

81 The aim of this study was to identify common genetic variants associated with FEV1 and its ratio to f

82 We identified potential genetic variants associated with FH of UGI cancer.

83 pression quantitative trait loci (eQTLs) are genetic variants associated with gene expression, and eG

84 ery large scale GWAS, we would identify more genetic variants associated with HbA1c and that HbA1c va

85 outh Asian ancestry, we identified 60 common genetic variants associated with HbA1c.

86 and track the spatiotemporal trajectories of genetic variants associated with human adaptations to no

87 Discovering genetic variants associated with human brain structures

88 Here, we studied genetic variants associated with human height to assess

89 (GWAS) have identified tens of thousands of genetic variants associated with hundreds of phenotypes

90 beta A mannosidase (MANBA), we observed that genetic variants associated with MANBA expression in the

91 However, the majority of genetic variants associated with neuroticism remain uncl

92 itude, possibly in part via the selection of genetic variants associated with reduced polycythemic re

93 We collected data on 23 genetic variants associated with risk for BE or EAC, and

94 Finally, we show that genetic variants associated with risk of neurodegenerati

95 PSC) lines from different donors to identify genetic variants associated with RNA expression for 5,74

96 Many genetic variants associated with sleep disorders are als

97 genetic screens, and facilitate the study of genetic variants associated with smaller effect sizes, s

98 elps functional interpretation of non-coding genetic variants associated with these diseases.

99 The identification of genetic variants associated with this adverse drug react

100 investigated the association between common genetic variants at the 7p21 locus and risk of the neuro

101 Common genetic variants at the ARL15 locus are associated with

102 Finally, we analyzed associations of common genetic variants at the CXCR4 locus with the risk for co

103 re more challenging to identify than smaller genetic variants but may substantially contribute to phe

104 help by providing complete knowledge of all genetic variants, but it is financially prohibitive for

105 fication of more than 100 obesity-associated genetic variants, but their roles in causal processes le

106 sociation study (PheWAS) result for a single genetic variant by observing its association across a la

107 everal tools have been developed to annotate genetic variants by their genomic location and potential

108 The geographic distribution of a genetic variant can also be of great utility for medical

109 Because the effects of genetic variants can depend strongly on their local geno

110 Studies of individuals with deleterious genetic variants can elucidate novel roles of human NRs,

111 Investigating the pleiotropic effects of genetic variants can increase statistical power, provide

112 We discuss how associated genetic variants can lead to understanding causal mechan

113 l/clinical geneticists and collectively many genetic variants can reveal population structure.

114 ties that were extremes in RS in each of the genetic variant classes, no difference in RS content due

115 Genetic variants contribute to normal variation of iron-

116 uate these loci and to identify other common genetic variants contributing to acute kidney injury.

117 n to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation rem

118 thesis that a weighted combination of common genetic variants contributing to QT interval at baseline

119 ther individual genetic variants, or sets of genetic variants, currently influence viability.

120 logies; the tools also allow users to upload genetic variant data directly, rather than requiring pri

121 d CAPE, which calculates the likelihood of a genetic variant deactivating enhancers by disrupting the

122 In conclusion, the genetic variant determining starch metabolism influences

123 We investigated whether genetic variants determining amylase gene copies are ass

124 s likely that the inoculum contains multiple genetic variants, differing in virulence.

125 at aims to identify the associations between genetic variants (e.g., single nucleotide polymorphisms

126 bolites (treated as quantitative traits) and genetic variants (e.g., SNPs) has been extensively studi

127 ed by Sanger confirmation, assessment of the genetic variant effect on cell signaling, and evaluation

128 To explore correlation information of genetic variants, effectively reduce data dimensions, an

129 e is an active process that is influenced by genetic variants, environmental signals, as well as the

130 can aid the discovery of disease-associated genetic variants, especially those with unknown function

131 Common genetic variants explained approximately 10% of the heri

132 ble (h(2) > 30%) and independent of known BP genetic variants, explaining an additional 1.4% and 2.0%

133 that a genetic QT score comprising 61 common genetic variants explains a significant proportion of th

134 Taken together, we identify a novel genetic variant for further elucidation of genetic under

135 We previously identified genetic variants for a NF-kappaB regulatory, ubiquitin-b

136 ing the categorization and prioritization of genetic variants for follow up analysis.

137 Genetic variants for intelligence and refractive error e

138 predominant source of contemporary exogenous genetic variants for the populations studied.

139 Methods We curated candidate genetic variants from previously published studies in ad

140 e sequencing, distinguishing disease-causing genetic variants from the multitude of candidate variant

141 heart rhythm regulation, with a key role for genetic variants (GNG11, RGS6) that influence G-protein

142 nd RPE cells carrying disease-associated CFH genetic variants had more alternative complement pathway

143 However, although hundreds of genetic variants have been associated with complex disor

144 Genetic variants have been associated with risk for EAC,

145 Genetic variants have been investigated, particularly wi

146 k of preterm birth, robust associations with genetic variants have not been identified.

147 rogress in technology, only a few associated genetic variants have so far been identified, strongly i

148 Specific causal genetic variants have, however, not been identified.

149 e that a greater load of Neanderthal-derived genetic variants (higher "NeanderScore") is associated w

150 enetics identifies the relationships between genetic variants (i.e., the single nucleotide polymorphi

151 In particular, how genetic variants (i.e., trans-eQTLs) affect expression o

152 is required for HSC activation and that its genetic variant I148M potentiates the profibrogenic feat

153 All genetic variants identified from original laboratory rep

154 The EBV genetic variants identified here provide a basis for fut

155 Most genetic variants identified in genome-wide association s

156 Finally, this work demonstrates that genetic variants identified through genome-wide associat

157 ults, we found associations between a common genetic variant in NCAN, rs1064395, and white matter vol

158 eractions were shown for the rs1440581 PPM1K genetic variant in relation to changes in insulin and HO

159 Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translat

160 We identified a novel genetic variant in the IGF2 gene associated with approxi

161 analyzed the association of common and rare genetic variants in 2 genes that mediate nitric oxide si

162 Eight independent genetic variants in 2 known (NPPA-NPPB and POC1B-GALNT4)

163 nor allele frequency below 1%) nonsynonymous genetic variants in 38 genes were shared by all 3 relati

164 sed an exome array to examine protein-coding genetic variants in 47,532 East Asian individuals.

165 e this, we integrated associations of common genetic variants in 57 GWASs with 24 studies of expressi

166 Well-known genetic variants in alcohol metabolizing genes, for exam

167 unique in ESCC linked to alcohol intake and genetic variants in alcohol-metabolizing enzymes.

168 'detecting and genotyping simple and complex genetic variants in an individual or population'.

169 To determine whether genetic variants in and around SPINK5 are associated wit

170 hypersensitivity to food and associated with genetic variants in calpain 14 (CAPN14).

171 Whether genetic variants in ceRNA can affect its biological func

172 genes, and the pathological significance of genetic variants in human cardiovascular diseases.

173 moking status; and a follow-up of associated genetic variants in independent datasets of patients wit

174 Since complement activation and genetic variants in inhibitory complement factor H (CFH)

175 On chromosome 14, TSHR genetic variants in intron 1 could conceivably help expl

176 sions, examining a more comprehensive set of genetic variants in larger numbers of subjects with type

177 lution and relapse and the role of inherited genetic variants in leukemogenesis.

178 3 (omega-3) polyunsaturated fatty acids] and genetic variants in or near transcription factor 7-like

179 enabled the identification of the underlying genetic variants in real populations.

180 ccessfully summarized genome-wide effects of genetic variants in schizophrenia with significant predi

181 Functional genetic variants in the catechol-O-methyltransferase (CO

182 ut its effectiveness is influenced by common genetic variants in the folate pathway that hinder conve

183 ions between the FEV1/FVC ratio and 5 common genetic variants in the identification cohort, and 2 of

184 We therefore tested whether genetic variants in the IL1RL1 distal promoter are invol

185 Serum ST2 levels and genetic variants in the IL1RL1 distal promoter were exam

186 a moderate association between psoriasis and genetic variants in the miR-146a encoding gene.

187 the functional interpretation of non-coding genetic variants in the molecular genetic dissection of

188 ll technology to study the effects of common genetic variants in vitro.

189 carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis

190 Testing the aggregation of genetic variants, in particular biological pathways, may

191 The most replicated and relevant genetic variants include polymorphisms in the genes for

192 technique have identified a large number of genetic variants including copy number (CNV) and single

193 The genetic variant increases the binding affinity for Klump

194 ait loci (eQTLs), can help us understand how genetic variants influence traits at the molecular level

195 To identify possible genetic variants influencing expression of EPHA2 (Ephrin

196 The identification of genetic variants influencing gene expression (known as e

197 The present results in AAs indicate that genetic variants influencing opioid sensitivity across d

198 The discovery of genetic variants influencing sleep patterns can shed lig

199 Genetic variant interpretation contributes to testing yi

200 ne or a genetic variant is to introduce that genetic variant into a model organism (such as yeast or

201 examining the functional role of a gene or a genetic variant is to introduce that genetic variant int

202 ays with mechanistic models of the impact of genetic variants is a promising alternative to genome-wi

203 Determining genetic variants is emerging as an additional adjunct to

204 hallenge encountered with interpreting human genetic variants is the limited understanding of the fun

205 digm lacks breadth (number of phenotypes and genetic variants jointly analyzed at the same time) and

206 cted in such loci and whether the associated genetic variants lead to increased or decreased gene fun

207 Deer tick virus (DTV), a genetic variant (lineage II) of Powassan virus, is a rar

208 Thus, common genetic variants located near genes involved in vitamin

209 Genetic variants mapping to chromosome 8p23.1 in genome-

210 herefore, we hypothesized that certain PCSK9 genetic variants may modify the association between LC n

211 sponse data are then associated with somatic genetic variants measured in the clinical cohort, such a

212 No genetic variant met the prespecified threshold for stati

213 informative in distinguishing the subset of genetic variants more likely to have functional relevanc

214 The genetic variants near the Melanocortin-4 receptor gene (

215 The common Ser96Ala human genetic variant of HRC strongly correlates with life-thr

216 The influence of a functional genetic variant of IL-32 on lipid profiles and CVD risk

217 However, genetic variants of complex diseases often only confer a

218 on of small molecules, functionally annotate genetic variants of disease genes, and inform clinical t

219 Genetic variants of fucosyltransferase 2 (FUT2) have bee

220 Genetic variants of Neuregulin 1 (NRG1) and its neuronal

221 Mutations and genetic variants of some genes in the TCPTP pathway are

222 me uses clinical genetic testing to identify genetic variants of the KCNQ1 potassium channel.

223 We discuss findings implicating genetic variants of the microglia receptor, triggering r

224 sity and gelatinization temperature based on genetic variants of the Waxy and Starch Synthase IIa gen

225 ver, BLM was also common among patients with genetic variants of uncertain significance (VUS; higher

226 rin regulation and the impact of a noncoding genetic variant on its function.

227 We investigated the influence of genetic variants on atherosclerosis using whole exome se

228 the impact of natriuretic peptide-associated genetic variants on blood pressure (n=27 059).

229 on analysis (n=6296) to study the effects of genetic variants on circulating natriuretic peptide conc

230 terizing the collective regulatory impact of genetic variants on complex phenotypes is a major challe

231 offset the impact of blood pressure-raising genetic variants on future cardiovascular disease risk.

232 ctivity (MVPA) and time spent sedentary with genetic variants on obesity among 9,645 U.S.

233 an efficient means to estimate the effect of genetic variants on quantitative traits.

234 o elucidate the mechanisms through which the genetic variants operate.

235 loped a method to examine whether individual genetic variants, or sets of genetic variants, currently

236 r a substantial increase in the discovery of genetic variants over the standard univariate approach.

237 Whether lipoprotein(a) concentrations or LPA genetic variants predict long-term mortality in patients

238 ngs support the hypothesis that certain host genetic variants predispose an individual towards microb

239 The contribution of common genetic variants previously associated with baseline QT

240 g a genetic approach, we took 10 independent genetic variants previously identified to associate with

241 FLG genetic variants R501X, 2282del4, and S3247X were genoty

242 iding a fivefold increase in sensitivity for genetic variants ranging in size from 7 bp to 1 kbp comp

243 cal eQTLs, the molecular mechanisms by which genetic variants regulate expression remain unclear, par

244 ate the potential causal association between genetic variants related to elevated serum calcium level

245 Genetic risk score based on genetic variants related to elevated serum calcium level

246 It is unclear, however, which genetic variants remain important over time.

247 To identify genetic variants responsible for vitamin D status and do

248 ly in individuals who carry a dG allele of a genetic variant rs368234815-dG/TT.

249 t disease, lipoprotein(a) concentrations and genetic variants showed no associations with mortality.

250 We identified 43,332 genetic variants significantly associated with altered V

251 We identified genetic variants (single nucleotide polymorphisms (SNPs)

252 ties of using model organisms to investigate genetic variants suspected of being pathogenic in humans

253 ion that is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene.

254 We have identified a functional genetic variant that alters PRRX1 expression, ultimately

255 , in the current study, we aimed to identify genetic variants that affect EE and thereby influence BM

256 Here we identified a large number of genetic variants that are associated with ceRNA's functi

257 as a complex trait and have uncovered human genetic variants that are associated with the microbiome

258 Genetic variants that cause haploinsufficiency account f

259 ain research interest is to identify sets of genetic variants that contribute to various phenotypes.

260 Although none of the genetic variants that have been identified in previous g

261 ations at HLA-DQA/DRB1 and LPA and find that genetic variants that increase educational attainment ha

262 Genetic variants that increase individual susceptibility

263 These results, demonstrating that common genetic variants that increase myeloperoxidase levels in

264 usands of regions in the genome that contain genetic variants that increase risk for complex traits a

265 Many genetic variants that influence phenotypes of interest a

266 Identifying genetic variants that influence the expression level of

267 Importantly, we identified numerous genetic variants that manifested their regulatory effect

268 This study greatly expands the number of genetic variants that may contribute to JIA and give us

269 Genetic variants that modulate gene expression levels pl

270 wide association analysis (GWAS) to identify genetic variants that predict MS relapse risk, using a t

271 at this condition can result from underlying genetic variants that significantly alter the phenotype

272 We sought to identify low-frequency genetic variants that strongly increase the risk of vita

273 Logistic regression was used to identify genetic variants that were significantly associated with

274 h genome sequencing in principle reveals all genetic variants, their sizeable number and poorer annot

275 ification of thousands of disease-associated genetic variants through genome wide association studies

276 netic prediction often requires modeling all genetic variants together via polygenic methods.

277 have played an important role in identifying genetic variants underlying human complex traits.

278 raits during weight loss.The rs1440581 PPM1K genetic variant was genotyped in a total of 757 nondiabe

279 olon neoplasms not associated with any other genetic variants; we performed deep sequence analysis of

280 After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects an

281 Genetic variants were employed as instruments to recapit

282 rtrophic cardiomyopathy patients with 2 rare genetic variants were retrospectively reviewed and compa

283 Genetic variants were tested individually and in aggrega

284 egion of human chromosome 2 (2p25.3) harbors genetic variants which are among those most strongly and

285 e vulnerability from incidentally identified genetic variants which is typified by variants found in

286 biology, since they represent a reservoir of genetic variants, which can enable quick adaptation of v

287 comprehensively relate proteomic profiles to genetic variants, which may both influence binding of af

288 We investigated the association of genetic variants with arsenic species and principal comp

289 ation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseas

290 eractions, and by the complex interfacing of genetic variants with gene expression.

291 consortia to estimate associations of PCSK9 genetic variants with LDL cholesterol, fasting blood glu

292 es (GWAS) have highlighted a large number of genetic variants with potential disease association, but

293 -carotene biosynthetic pathway that produced genetic variants with precise mutations in promoters, ge

294 allenging as they are often affected by many genetic variants with small or moderate effects.

295 We studied the association of genetic variants with the plasma levels of each of the 1

296 e exome sequencing has associated pathogenic genetic variants with unexpected, often multisystem, hum

297 ation involving the accumulation of distinct genetic variants within a single population.

298 tic drift, and also the interactions between genetic variants within the mutant swarms.

299 To identify putative causal genetic variants within the QTL, we performed transcript

300 sociation study data has showed that several genetic variants within vitamin D cascade affect vitamin