ライフサイエンスコーパス: genetic variant

1 data sources to detect arbitrary classes of genetic variant.

2 within individual families carrying the same genetic variant.

3 th tobacco smoking, alcohol consumption, and genetic variants.

4 R3C and RBFOX1 were also supported by common genetic variants.

5 HLH, adult HLH is rarely driven by germline genetic variants.

6 f regional measures may enhance discovery of genetic variants.

7 fts in transcription induced by thousands of genetic variants.

8 aids in the effort to identify trait causal genetic variants.

9 irtually all genotypes but through different genetic variants.

10 ility contribute to ADHD risk through common genetic variants.

11 formed association mapping using 6.3 million genetic variants.

12 f which were enriched for disease-associated genetic variants.

13 EoE demonstrated enrichment of CAPN14 common genetic variants.

14 ad to increased identification of pathogenic genetic variants.

15 explained by additional linked mean-effects genetic variants.

16 combinatorial effect of two or more genes or genetic variants.

17 ogical themes, based on the analysis of rare genetic variants.

18 als with highly, but incompletely, penetrant genetic variants.

19 lications such as the functional analysis of genetic variants.

20 inflammation, and increasingly well-defined genetic variants.

21 , respectively, through pleiotropy at shared genetic variants.

22 stem drift driven by accumulation of cryptic genetic variants.

23 the list of metabolites associated with the genetic variants.

24 levels, and such effects may be moderated by genetic variants.

25 s of individuals and hundreds of millions of genetic variants.

26 Wnt pathway, which is modulated by specific genetic variants.

27 Twelve independent genetic variants, 7 of which are newly identified in thi

28 Of 52 AMD-associated genetic variants, 7 variants were associated significant

29 to schizophrenia etiology from a variety of genetic variants accessible to WGS but not by previous t

30 Aggregating the prognostic effects of genetic variants across multiple genes, we identify four

31 aid in understanding the effects of observed genetic variants across populations.

32 o GxE effects and to test for GxE effects at genetic variants across the genome.

33 Hundreds of common genetic variants acting through distinguishable physiolo

34 As genetic variants affecting the primary cilium can cause

35 d on APOE e2, an established neuroprotective genetic variant against Alzheimer's disease.

36 iction and obesity in individuals with C385A genetic variant and by extension, suggest that a D3 anta

37 ity of individuals who carry disease-causing genetic variants and are at risk of disease complication

38 lso preserves linkage disequilibrium between genetic variants and associations between variants and p

39 sociation studies were conducted to identify genetic variants and bioinformatics analyses were perfor

40 ciation study (GWAS) to identify significant genetic variants and biological pathways that are associ

41 d because these are likely mediators between genetic variants and disease outcome.

42 Instead, monoallelic genetic variants and environmental factors can result in

43 ution tackles optimization by producing many genetic variants and exposing these variants to selectiv

44 cts meta-analysis of the association between genetic variants and gastric cancer in six independent g

45 (FDR) approach to evaluate overlap in common genetic variants and improve statistical power for genet

46 a freely available, public archive of human genetic variants and interpretations of their relationsh

47 Genetic variants and lifestyle factors have been associa

48 mportant role in identifying disease-related genetic variants and novel treatments.

49 erful means to identify associations between genetic variants and phenotypes.

50 racterizing the resulting disease-associated genetic variants and prioritizing functional follow-up t

51 w methods for assaying putatively functional genetic variants and regions, emphasizing MPRAs and the

52 ores the risk associations between these two genetic variants and the development of alcohol-related

53 ext steps require identification of "causal" genetic variants and their proximal biological consequen

54 er understand the functional significance of genetic variants and to utilize the discovery of molQTLs

55 We discuss how genetic variants and transcriptomic profiles may confer

56 rospective (post hoc) analyses of nutrition, genetic variants, and deep learning in AMD in both the A

57 e potential bias from pleiotropic effects of genetic variants, and lack of generalizability of indivi

58 evolving pandemic situation, the associated genetic variants, and their implications for the develop

59 ives of probands with a confirmed pathogenic genetic variant are advised predictive DNA testing to en

60 Rare genetic variants are abundant across the human genome, a

61 CYP17A1 genetic variants are associated with coronary artery dis

62 As around half of known pathogenic genetic variants are due to SNVs, base editing holds gre

63 Hundreds of genetic variants are expected to influence its complex d

64 eceptor expressed in myeloid cells 2 (TREM2) genetic variants are risk factors for AD and other neuro

65 investigation depends on the validity of the genetic variants as instrumental variables (IVs).

66 Mendelian randomization (MR) is the use of genetic variants as instrumental variables to infer the

67 nce of genetic variants on phenotypes, using genetic variants as naturally occurring perturbation of

68 that favor sparsity: i.e., which use as few genetic variants as possible.

69 We here developed a method for selecting genetic variants as valid instrumental variables for inf

70 s per tumor, and by increasing the number of genetic variants assayed per clone.

71 We used genetic variants associated with a morning preference fr

72 studies (GWAS) have identified thousands of genetic variants associated with a range of human diseas

73 association studies (GWASs) seek to identify genetic variants associated with a trait, and have been

74 psychiatric conditions, the extent to which genetic variants associated with ADHD also influence bro

75 Our findings identified the genetic variants associated with ADHD and ASD that likel

76 g genetic risk scores (GRSs) from 941 common genetic variants associated with adult BMI and estimatin

77 Thus, this study aimed to identify genetic variants associated with AgP via whole exome seq

78 placement at cardiac magnetic resonance plus genetic variants associated with arrhythmogenic right ve

79 We aimed to identify genetic variants associated with asthma hospitalizations

80 ASoCs were enriched for genetic variants associated with brain disorders, enabli

81 Approaches for defining genetic variants associated with canine morphology inclu

82 Genetic variants associated with circulating protein lev

83 so performed Mendelian randomization using 8 genetic variants associated with coffee intake to assess

84 Host genetic variants associated with critical illness may id

85 Genetic variants associated with deviations from normal

86 The most commonly reported genetic variants associated with DHRs are located in hum

87 We also show that the enrichment of genetic variants associated with diseases or phenotypic

88 ntology allows the precise identification of genetic variants associated with diseases, phenotypes an

89 -wide association studies (GWAS) to identify genetic variants associated with diverse quantitative tr

90 an exhaustive functional characterization of genetic variants associated with familial CRC.

91 tus (SES), and poorer self-rated health, the genetic variants associated with high levels of anxiety/

92 Genetic variants associated with intermediate traits, te

93 score (PRS) that combined the effects of 111 genetic variants associated with IOP.

94 Genetic variants associated with lower SMAD5 expression

95 ply mouse regulatory models to analyze human genetic variants associated with molecular phenotypes an

96 This study seeks to identify the genetic variants associated with neck or shoulder pain b

97 ave generated an increasing number of common genetic variants associated with neurological and psychi

98 nd waist circumference, and information on 5 genetic variants associated with obesity.

99 etecting epistasis, the interactions between genetic variants associated with phenotypes, are still l

100 We conducted integrative analyses of genetic variants associated with PLT/MPV with protein qu

101 l for survival analysis was used to identify genetic variants associated with progression.

102 ese studies have begun to unearth many novel genetic variants associated with psychiatric disorders a

103 fficient than random sampling in identifying genetic variants associated with resistance and diagnost

104 We used summary-level data for genetic variants associated with smoking initiation (eve

105 itional genetic studies focus on identifying genetic variants associated with the mean difference in

106 ructure and function, we create a catalog of genetic variants associated with three stages of transcr

107 ome-wide association studies (GWAS) identify genetic variants associated with traits or diseases.

108 identify both main and epistatic effects of genetic variants associated with traits such as fitness.

109 e tool for detecting causal effects by using genetic variant associations.

110 Genetic variants at the chromosome 1q31.3 encompassing t

111 The aim of this study was to identify genetic variants based on somatic alterations in OpSCC s

112 ther there is any evidence for shared causal genetic variants between lung function, DNA methylation,

113 of patients carry a putative disease-causing genetic variant, but interpretation of genetic test resu

114 Here, we captured noncoding genetic variants by performing epigenetic profiling for

115 our ability to assign function to noncoding genetic variants, by measuring allelic effects on gene e

116 We found that the FAAH genetic variant C385A was associated with significantly

117 The impact of genetic variant can propagate to other genes along the l

118 These observations suggest genetic variants can decrease mRNA expression levels by

119 These findings show that naturally occurring genetic variants can profoundly alter normal protein fun

120 ved dendritic cells from low-expressing IRF5 genetic variant carriers.

121 as for identifying haplotypes for which the genetic variant carries significant information about th

122 its, the mechanistic links that underlie how genetic variants cause complex traits remains elusive.

123 ecessity of multiclass modeling for accurate genetic variant classification and show how disease clas

124 The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs

125 n contribute to a small number of additional genetic variants compared to those that occur naturally

126 ere are now large-scale data on which common genetic variants confer risk for attention deficit hyper

127 data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixe

128 tive disorder for which both rare and common genetic variants contribute to disease risk, onset, and

129 ow that a dramatic shift in the frequency of genetic variants, coupled with major changes in gene exp

130 ulticenter Zurich ARVC Registry who hosted a genetic variant deemed to be associated with the disease

131 pressivity" occurs when the effect size of a genetic variant depends upon whether the phenotype (e.g.

132 porcell, a method to cluster cells using the genetic variants detected within the scRNA-seq reads.

133 ide association study (GWAS) to identify the genetic variants determining the blood levels of AD-asso

134 r's infinitesimal model of a large number of genetic variants, each with very small effects, whose ca

135 Association of a genome-wide set of germline genetic variants enabled the identification of three gen

136 In addition to genetic variants, environmental triggers such as immune-

137 address the complicated interaction between genetic variants, epigenetic processes, sex and the envi

138 aptation, with most horizontally transferred genetic variants establishing at a low frequency in the

139 ms can help improve our understanding of how genetic variants exert their effects on complex traits a

140 e visual system contribution, we generated a genetic variant exhibiting extremely slow phototransduct

141 eveloping brains, we identified thousands of genetic variants exhibiting allele-specific open chromat

142 assays can simultaneously test thousands of genetic variants for a property of interest.

143 M genetic variants (the proportion of causal genetic variants for CRC assumed to be 0.003), whereas t

144 We identified genetic variants for MR analysis to investigate the caus

145 To identify genetic variants for risk of squamous cell carcinoma of

146 ther compared the predictabilities using the genetic variants from genic regions with those using non

147 Nevertheless, to date, individual genetic variants from genome-wide association studies ha

148 ial glycemia (6.0% and 15.4%, respectively); genetic variants had a modest impact on predictions (9.5

149 on in human populations by introducing novel genetic variants (haplotypes) at intermediate frequencie

150 lygenic risk scores (PRSs) using millions of genetic variants has attracted much attention.

151 ch is often focused on the identification of genetic variants, has been biased in favour of pedigrees

152 understanding the mechanisms by which these genetic variants have an impact on associated diseases a

153 Many rare genetic variants have been associated with DCM, but comm

154 Whilst thousands of genetic variants have been associated with human traits,

155 contrast to most other common diseases, few genetic variants have been identified that impact risk o

156 Advances in our understanding of genetic variants have been slightly offset by an increas

157 Together, these new WNK1 genetic variants highlight the importance of the KS-WNK1

158 Genetic variants, hypoxia, malnutrition, or other factor

159 Genetic variants identified in genome-wide association s

160 ine whether this association is causal using genetic variants identified in genome-wide association s

161 However, genetic variants identified so far can explain only a sm

162 Genetic variants identified through genome-wide associat

163 The genetic variants identified were characterized in terms

164 e association studies have identified common genetic variants impacting human diseases; however, ther

165 unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases.

166 In children and young adults, genetic variants in >50 podocyte-expressed genes, syndro

167 Common genetic variants in a diagnostic gene panel of 396 autos

168 d the construction of billions of customized genetic variants in a single day.

169 ne that successfully tags over 94% of common genetic variants in African populations.

170 ty from ages 95 to 103 years associated with genetic variants in apolipoprotein E (APOE), forkhead bo

171 Genetic variants in desmosomal genes (desmoplakin and de

172 uggest a potential utility of the identified genetic variants in explaining possible association betw

173 Patients with genetic variants in FGFR2 or its ligands may have increa

174 We identified novel and predicted functional genetic variants in genes previously associated with AD.

175 pproach for estimating the date of origin of genetic variants in large-scale sequencing data sets.

176 enotypes arise from the complex ensembles of genetic variants in living organisms.

177 n engineering and the functional analysis of genetic variants in reverse genetics.

178 Genetic variants in the APOL1 gene, found only in indivi

179 HDL-C raising genetic variants in the gene locus of the target of CETP

180 Genetic variants in the STAT1/STAT4 region are associate

181 cs of genetic variation, so that deleterious genetic variants, including antibiotic resistance genes,

182 he 127 cases (29%), we identified diagnostic genetic variants, including those for disorders affectin

183 wel disease in early childhood, and a common genetic variant increases the risk for Crohn's disease a

184 ncestry participants, and discover 5,106 new genetic variants independently associated with 29 blood

185 ucted Mendelian randomization analyses where genetic variants indexed expected effects of modulating

186 nd ISL1, and identified a link between human genetic variants influencing heart rate recovery after e

187 Common genetic variants interact with environmental factors to

188 We aimed to identify the common genetic variants interacting with pack-years of smoking

189 Selecting a set of valid genetic variants is critical for Mendelian randomization

190 ngs across multiple disorders and classes of genetic variants is the role of genes intolerant to muta

191 We identified genetic variants L505R (LR) and R507Q (RQ) located withi

192 A variety of genetic variants likely contribute to disease developmen

193 s of worry/vulnerability are associated with genetic variants linked to higher SES, higher intelligen

194 Whereas cis effects are caused by genetic variants located on the same DNA molecule as the

195 ing molecules) with common and low-frequency genetic variants located within the FADS locus.

196 The extent to which the impact of regulatory genetic variants may depend on other factors, such as th

197 from compounded risk contributed by multiple genetic variants, meaning that simultaneous correction o

198 In 79 patients bearing 80 unique genetic variants, n=47 (58.8%) genetic variants were rec

199 ns in neural progenitor cells, we identify a genetic variant of AGS Atp5g1 that confers cell resilien

200 We also show that genetic variants of AD are enriched in a microglial AD-a

201 ne 66 mice, a transgenic mouse model akin to genetic variants of frontotemporal dementia.

202 t genome-wide association studies identified genetic variants of SIRT1 linked to major depressive dis

203 We also compiled novel and known genetic variants of the PTCHD1 locus to explore the role

204 Loss-of-function genetic variants of triggering receptor expressed on mye

205 Interpreting genetic variants of unknown significance (VUS) is essent

206 rize gene expression mediating the effect of genetic variant on diseases, often analyzed one gene at

207 verging data provide support for the role of genetic variants on chromosome 18q23 in regulating neura

208 r (PrCa) may be due to regulatory effects of genetic variants on CpG sites, which may further influen

209 This study unravels the effects of genetic variants on gene expression dynamics in drought

210 gene networks that modulate the influence of genetic variants on phenotypes, using genetic variants a

211 d proteins putatively mediate the effects of genetic variants on seven neurological phenotypes (Alzhe

212 The effect of 52 AMD-associated genetic variants on the identified metabolites was inves

213 ipids were not significantly associated with genetic variants outside of this FADS locus.

214 Certain genetic variants outside the class II HLA region may hav

215 We examined the associations of FPIR with genetic variants outside the HLA DR-DQ region in the Fin

216 diminishing meta-analytic effects of several genetic variants over time.

217 ories in the fields of genomics, proteomics, genetic variants, pathways, chemical compounds, and dise

218 While rare genetic variants play a role in the etiology of schizoph

219 oMM-S2, to examine the mechanistic role that genetic variants play, by using only GWAS summary statis

220 Genetic variant PNPLA3 I148M may complement other liver

221 ow often these relationships are modified by genetic variants (quantitative trait loci [QTL]) acting

222 This study gathers evidence that BD-related genetic variants regulate GNL3 expression which subseque

223 ted in the identification of a wide range of genetic variants related to a host of complex traits and

224 challenge requires us to identify causative genetic variants, relevant cell types/states, target gen

225 Haplotype reconstruction of distant genetic variants remains an unsolved problem due to the

226 ic variation, but the interpretation of rare genetic variants remains problematic.

227 Many AF-associated genetic variants reside in noncoding regions; this knowl

228 reveal that a gain-of-function JAK1 genetic variant results in a mutant protein with mosaic

229 ies have successfully identified hundreds of genetic variants robustly associated with risk for psych

230 A clear understanding of the genetic variants' role is crucial to guide the developme

231 part to the presence of population-specific genetic variant(s) affecting HER2 expression in breast c

232 Among the 6 genetic variants selected at a 20% false discovery rate

233 While several genetic variants showed opposing fitness effects in diff

234 sets of single-nucleotide-polymorphism (SNP) genetic variants (SNP338 and SNP363) associated with eac

235 ce of the molecular mechanisms of NOn-coding genetic variants (SparkINFERNO), a scalable bioinformati

236 We selected genetic variants strongly (P < 5 x 10(-6)) associated wi

237 Summary statistics for genetic variants strongly associated with telomere lengt

238 peat expansion in C9ORF72 is the most common genetic variant that contributes to amyotrophic lateral

239 as the target gene, trans effects are due to genetic variants that affect diffusible elements.

240 tion studies (GWAS) have identified numerous genetic variants that are associated with lung cancer ri

241 L1 kidney risk alleles are a rare example of genetic variants that are common but also have a powerfu

242 Naturally occurring human genetic variants that are predicted to inactivate protei

243 weedy relatives of domesticated crops harbor genetic variants that can advance agricultural biotechno

244 Some families with a history of CRC carry genetic variants that cause CRC with high or moderate pe

245 Increasing our understanding of genetic variants that contribute to DHRs will allow us t

246 Common small-effect genetic variants that contribute to human complex traits

247 Genetic variants that define two distinct haplotypes at

248 enhancer domains are depleted of cis-acting genetic variants that disrupt gene expression, and they

249 Genetic variants that inactivate protein-coding genes ar

250 rogen, are significant risk factors and that genetic variants that increase androgen levels are assoc

251 Our analysis shows some genetic variants that increase prediction of ASCVD beyon

252 the deletion of CFHR3 and CFHR1 as dominant genetic variants that modify CFH/FHL-1 binding to MDA.

253 performed an unbiased genome-wide search for genetic variants that modify the ability of plasma CFH t

254 We aimed to identify new genetic variants that predispose to cirrhosis, to test w

255 handedness is highly polygenic and that the genetic variants that predispose to left-handedness may

256 netic Reference Panel) to search for natural genetic variants that regulate radiation-induced gut per

257 association studies of asthma suggests that genetic variants that regulate the expression of PAG1 ar

258 This disorder is associated with genetic variants that result in virtually absent (null-n

259 en smoking-related CpGs in NAc are driven by genetic variants that share association signals with pre

260 stic yield of exome sequencing for detecting genetic variants that were classified as either pathogen

261 ved PRS (AUC = 0.654) including nearly 1.2 M genetic variants (the proportion of causal genetic varia

262 Combining all genetic variants, the total genetic risk score ranged fr

263 he functional impact of both common and rare genetic variants, thereby refining the epigenomic archit

264 uch simpler than EMMA and about m (number of genetic variants) times simpler than that of GEMMA when

265 ank and identify the potential pathways from genetic variant to disease.

266 mance in identifying the pathway(s) from the genetic variant to the disease.

267 There could be multiple pathways from the genetic variant to the final disease, with each having t

268 works for the discovery of common paths from genetic variants to AD and T2DM.

269 sociation studies have suggested a number of genetic variants to be associated with antidepressant re

270 R) is an epidemiological technique that uses genetic variants to distinguish correlation from causati

271 suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic ove

272 New experimental platforms have connected genetic variants to mechanisms underlying disruption of

273 ectly model the cascade of perturbation from genetic variants to the gene network to the phenotype ne

274 set out to study the contribution of common genetic variants to the risk for ADHD across the lifespa

275 The observation that disease-associated genetic variants typically reside outside of exons has i

276 is a challenging problem especially when the genetic variants under study are rare.

277 advances in the detection of rare and common genetic variants underlying PAH susceptibility and disea

278 In searching for genetic variants underlying the short sleep trait, we fo

279 ant for better interpreting trait-associated genetic variants, understanding disease etiology, and im

280 or LQT3 were genotyped for 61 QTc-associated genetic variants used in a prototype QTc-polygenic risk

281 fied by the user as well as consideration of genetic variants (variant-aware).

282 genome-wide PRS for CAD comprising 6 579 025 genetic variants was evaluated in 11 953 patients with a

283 The genetic risk burden of EoE-associated genetic variants was markedly larger in cases relative t

284 Furthermore, analyses pertaining to the same genetic variant were difficult to compare due to differe

285 Genetic variants were examined using whole-genome sequen

286 Candidate genetic variants were identified by whole-exome sequenci

287 PCSK9 loss-of-function genetic variants were independently associated with incr

288 ing 80 unique genetic variants, n=47 (58.8%) genetic variants were reclassified, and reclassification

289 Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK f

290 n levels were associated with AMD-associated genetic variants, whereas decreased essential amino acid

291 rts a genotype assay for common and rare AMD genetic variants, which can identify individuals at inte

292 Of 1,190 adults, 206 (17.3%) had at least 1 genetic variant with pathogenic (P) or likely pathogenic

293 ion confirmed perfect co-segregation of this genetic variant with the disease.

294 loci (eQTLs) studies provide associations of genetic variants with gene expression but fall short of

295 syndromes, and the correlation of pathogenic genetic variants with neuroimaging phenotypes.

296 e meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinica

297 We obtained associations of lipid-related genetic variants with the risk of overall and 22 site-sp

298 Genetic variants within complement factor H (CFH), a maj

299 ctive in AMD and highlight the importance of genetic variants within the CFH/CFHR3/CFHR1 locus in the

300 iously described, as well as about a hundred genetic variants without any correlation with resistance