ライフサイエンスコーパス: genetic variation

1 es to BB vary, which may be partially due to genetic variation.

2 erstand the geographic distribution of human genetic variation.

3 ation for understanding the human genome and genetic variation.

4 inically and biologically important class of genetic variation.

5 n been difficult to resolve due to a lack of genetic variation.

6 us with larger than expected intra-accession genetic variation.

7 how habitat loss and fragmentation influence genetic variation.

8 he role of gene flow in resupplying adaptive genetic variation.

9 t in diversity outbred mice that model human genetic variation.

10 tions to fully discover and understand human genetic variation.

11 ce of collecting and preserving more natural genetic variation.

12 of gene regulatory mechanisms and functional genetic variation.

13 substantial variety of its physiological and genetic variation.

14 edicted to be soft sweeps acting on standing genetic variation.

15 ed for disease-relevant genes and associated genetic variation.

16 nalysed these for relationships to inherited genetic variation.

17 otype analyses assessed B1 polymorphisms and genetic variation.

18 us on how networks influence the exchange of genetic variation.

19 do not scale well to large-scale datasets of genetic variation.

20 from popular statistical models of additive genetic variation.

21 omplete picture of genomes and their complex genetic variations.

22 The human genome harbors a variety of genetic variations.

23 on barley pan-genome makes previously hidden genetic variation accessible to genetic studies and bree

24 omputational study that exploits the natural genetic variation across five closely related species to

25 In recent species radiations the sharing of genetic variation across porous species boundaries can f

26 rse saprotrophic lineages and the impacts of genetic variation across species, and especially within

27 ) for TWASs, leveraging the co-regulation of genetic variations across different tissues explicitly v

28 RT, the HBV on-TDF persistence is defined by genetic variations across the entire HBV genome.

29 HD, and they clearly indicate that multiple genetic variations act by different means through FAN1 t

30 OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variatio

31 Understanding how genetic variation affects gene expression in different T

32 We show that genetic variation affects TL in multiple tissue types an

33 d who are at triple the normal risk based on genetic variation alone.

34 We uncovered therapeutic genetic variation among eukaryotic Hsp104 homologs that

35 Overall, 88% of the tumors exhibited genetic variation among primary tumor regions.

36 LTL genetic variation among SSAs, with the longest LTL in th

37 led principles of gene regulation and guided genetic variation analysis.

38 riation may contribute to the maintenance of genetic variation and adaptive trajectories of rhizobia

39 The relationship between germline genetic variation and breast cancer survival is largely

40 ns of genomes are capable of expressing more genetic variation and can therefore better represent a p

41 ntal gradients potentially due to geographic genetic variation and climate interactions with other as

42 Associations between genetic variation and clinical conditions suggest that s

43 sequence, gene models, transcriptional data, genetic variation and comparative analysis.

44 We identified a high degree of genetic variation and complex ancestry in Arabian horses

45 metabolic parameter that is shaped by human genetic variation and contributes causally to key metabo

46 ed by a combination of selection on standing genetic variation and de novo mutations.

47 and medicine, such as cataloging population genetic variation and diagnosing genetic diseases.

48 The relationship between human genetic variation and disease has not been fully elucida

49 omedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a ch

50 e that facilitates the spread of nonselected genetic variation and expands the adaptive potential of

51 ed post-zygotic hybrid barriers depending on genetic variation and gene dosage.

52 Point mutations are a common form of genetic variation and have been identified as important

53 els, facilitate quantification of microbiome genetic variation and inferences about how this diversit

54 nd cultural factors which shaped patterns of genetic variation and influenced the genetic architectur

55 Meiosis recombines genetic variation and influences eukaryote genome evolut

56 enomes, and they represent a major source of genetic variation and novelty.

57 n contributes to inter- and intra-individual genetic variation and occasionally can lead to human gen

58 ch represents the most proximal link between genetic variation and organismal phenotype, and quantifi

59 ks is key to establish a causal link between genetic variation and phenotype.

60 seful computational tool for elucidating the genetic variation and phenotypic association of alternat

61 nderlying factors such as reproductive rate, genetic variation and plasticity.

62 otyping by sequencing (GBS) to determine the genetic variation and population structure in red clover

63 opioid receptor structure is driven by both genetic variation and receptor oligomerization.

64 Yet, genetic variation and signaling pathways associated with

65 In order to assess genetic variation and signatures of selection within a N

66 es highlight the combined effects of Atg16L1 genetic variation and stimulatory context on immune func

67 te analyses found strong correlation between genetic variation and surface chlorophyll-a and salinity

68 ses revealed significant association between genetic variation and temperature variables.

69 tation rate estimation based on the observed genetic variation and the expected site frequency spectr

70 pergenes, the role of development in shaping genetic variation and the origins of adaptive variation,

71 gene expression as a mediating trait linking genetic variations and diseases.

72 We identified more than 60 million genetic variations and established a population genetic

73 ptures behavioral differences resulting from genetic variations and oxygen sensitivity.

74 eomics is a powerful tool for characterizing genetic variations and post-translational modifications

75 tudy hepatocyte biology, disease mechanisms, genetic variation, and drug metabolism in a more physiol

76 es, covering a spectrum of heterotic groups, genetic variation, and levels of heterosis for various t

77 e a more complete enumeration of etiological genetic variation apart from the exome and regions of hi

78 Based on our findings, landscape effects on genetic variation appears to differ based on spatial sca

79 d present evidence that some patterns in its genetic variation are incompatible with strict clonality

80 However, the phenotypic implications of this genetic variation are not well understood, with effects

81 sment of the impact of gene flow on adaptive genetic variation are still limited.

82 itative trait loci) and show that underlying genetic variations are important drivers of methylation

83 The variation graph toolkit (VG) represents genetic variation as a graph.

84 toms in HD are influenced by the same common genetic variation as in the general population by 1) con

85 e genome and aligned reads covering sites of genetic variation as numeric tensors allows us to levera

86 c markers of regulatory DNA(1-5) and contain genetic variations associated with diseases and phenotyp

87 t abundance, including 10 QTL hotspots where genetic variation at a single locus coordinates the regu

88 RNA genetic variation at expressed SNV loci can be estimated

89 des a comprehensive strategy to characterize genetic variation at important disease-associated loci,

90 study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation i

91 Genetic variation at the 8q24 locus is linked with the g

92 In addition, we found evidence that genetic variation at the ABO locus is associated with bo

93 These findings highlight the central role genetic variation at the FADS locus plays in regulating

94 nd demonstrate how dispersal affects spatial genetic variation at the local, regional, and range-wide

95 Genetic variation at the LRRK2 locus was associated with

96 isingly heterogenous tissue with substantial genetic variation based on anatomical location and speci

97 Mutation studies based on natural genetic variation between C57BL/6 and BALB/c mouse strai

98 By comparing signatures of genetic variation between polymorphic and monomorphic sp

99 as resulted in extensive catalogues of human genetic variation, but the interpretation of rare geneti

100 ed a robustness to the disruptive effects of genetic variation by expanding their regulatory domains.

101 Genetic variation can be identified, via molecular techn

102 locking evidence from the diversity of human genetic variation can facilitate drug development.

103 or blood cell traits, illuminating how human genetic variation can impact on key mechanisms in hemato

104 Natural genetic variation can point to the possible gene regulat

105 een COMT genotype with scarring, with rs4680 genetic variation constituting an independent risk facto

106 Genetic variation contributes to initiation, regular smo

107 ome-wide association studies have identified genetic variation contributing to complex disease risk.

108 To characterize potential underlying genetic variation contributing to EAA in AUD, we perform

109 Given the huge amount of human genetic variation data available from diverse population

110 h DKD phenotypes, the key role of underlying genetic variations driving methylation variations, and p

111 impact of spatial and migratory structure on genetic variation during processes as varied as range ex

112 clustering is uncertain because of low virus genetic variation early in the pandemic.

113 Population-level genetic variation enables competitiveness and niche spec

114 ional components to define the links between genetic variation, epigenetic gene regulation, and atria

115 Genomic regions underlying genetic variation for 14 traits classified broadly into

116 Mutations create genetic variation for other evolutionary forces to opera

117 es, which is consistent with the presence of genetic variation for physiological traits relevant for

118 s of selection on hosts is reflected in this genetic variation for resistance in lines derived from w

119 Genetic variation for this cluster was lower than would

120 he potential to unveil heritable and somatic genetic variations for guiding precision immunotherapy t

121 The very different patterns of genetic variation found across world regions suggest str

122 omplex, and provide evidence supporting that genetic variations found in individuals with intellectua

123 he genome-wide variation in population-level genetic variation from 41K unrelated TOPMed samples.

124 major consequences that the transmission of genetic variation from parents to offspring has on the a

125 I consider how host genetic variation (G x G), other environmental factors (

126 While genetic variation has a known impact on the risk for obs

127 The lack of mechanistic understanding of genetic variation has become the major bottleneck in the

128 Genetic variations have been identified that lead to a s

129 Genome-wide analyses of common and rare genetic variations have documented the heritability of m

130 y between this locus and naturally occurring genetic variations highly significant for sterol/steroid

131 A new study by Fasolino et al. defines how genetic variation in a mouse model of type 1 diabetes me

132 Genetic variation in a pathogen, including the causative

133 ffective approach to complete the catalog of genetic variation in a study population.

134 at alternative editing can work to introduce genetic variation in a system that selects against nucle

135 The depth of genetic variation in Africa revealed this relationship w

136 rcles or the contribution of such circles to genetic variation in aged cells.

137 tamatergic, dopaminergic, and neuroendocrine genetic variation in aggression and CU-traits.

138 to be a fundamental underlying principle of genetic variation in all cases.

139 e unknown, we asked whether there is natural genetic variation in amylose synthesis within a wild, un

140 Here we examine population genetic variation in and near the OCA2 gene from a world

141 EAA was associated with genetic variation in APOL2, suggesting potential novel b

142 Genetic variation in aromatase and changes in estrogen m

143 after intense activity, and that the role of genetic variation in both genes in intellectual disabili

144 Genetic variation in circulating RSV strains will contin

145 Our study shows that genetic variation in cis-regulatory elements affects gen

146 on of Arabidopsis and is associated with the genetic variation in CLSY1, a key component of the RNA-d

147 Genetic variation in CR1 and CR2 have been implicated in

148 While speciation should initially reduce genetic variation in daughter versus parental species, a

149 rmore, our results indicate that segregating genetic variation in epistatically interacting loci may

150 t strategies to investigate the role of host genetic variation in established and emerging infections

151 The effects of genetic variation in FOLH1 on mRNA expression in human b

152 de polymorphisms to characterize patterns of genetic variation in French, Spanish, and Mexican teosin

153 ombinatorial PTMs, alternative splicing, and genetic variation in HCM.

154 We aimed to examine genetic variation in height within the Mendelian randomi

155 ary SNP analyses further confirmed extensive genetic variation in human RvE1/EPA-metabolizing genes.

156 We first tested the hypothesis that genetic variation in inbred strains of mice influences t

157 Genetic variation in LRRK2 associates with the susceptib

158 number of recent papers report that standing genetic variation in natural populations includes ubiqui

159 gauging the evolutionary processes governing genetic variation in natural populations, and provides a

160 Genetic variation in NPQ relaxation rates and photosynth

161 tween frustration and pain, and suggest that genetic variation in opioid tone may contribute to indiv

162 ps are needed to understand the structure of genetic variation in our species and the history of, and

163 nce for the evolution of trait plasticity as genetic variation in plasticity was maintained in the fa

164 and highlight the importance of quantifying genetic variation in plasticity when evaluating the driv

165 We identified genetic variation in plasticity, with genetic correlatio

166 gh- compared to low-risk environments due to genetic variation in plasticity.

167 e expansions lead to distinctive patterns of genetic variation in populations, even in the absence of

168 c pleiotropy, the importance of pre-existing genetic variation in populations, the danger that adapta

169 This approach revealed extensive genetic variation in predator-induced plasticity in ance

170 s new insights regarding the role of natural genetic variation in regulating gene expression and gene

171 Genetic variation in regulatory elements can alter trans

172 Genetic variation in regulatory regions has been connect

173 The effect of genetic variation in response to eCO(2) is poorly unders

174 Genetic variation in SP-A2 at position Gln223Lys is pres

175 Genetic variation in SSAs explained 52% of LTL variance

176 These studies underscore the importance of genetic variation in susceptibility to both viruses and

177 We quantify the impact of genetic variation in TBP and drug class variation target

178 However, assessing the contribution of genetic variation in TF-binding sites to disease heritab

179 Genetic variation in the FADS locus was strongly associa

180 Genetic variation in the FAM13A (Family with Sequence Si

181 habitats in the urban environment and higher genetic variation in the ground-level population.

182 virus-induced inflammation, suggesting that genetic variation in the IRF5 gene may influence host su

183 overlap, and in this study we tested whether genetic variation in the major histocompatibility comple

184 Center's BioVU biobanks to study the role of genetic variation in the occurrence of self-reported pen

185 their predictive power is not simply due to genetic variation in the transcribed genomic regions.

186 f PCOS in Pakistan, that was not modified by genetic variation in the vitamin D pathway.

187 s represents the first published instance of genetic variation in these key gas-exchange traits being

188 3 function by leveraging naturally occurring genetic variation in wild-derived inbred mice, which ena

189 ielded 15 meta-analytic studies reporting on genetic variations in 10 genes.

190 Genetic variations in CYP2D6 are responsible for interin

191 s and plays a crucial role in increasing the genetic variations in eukaryotic organisms.

192 Notably, genetic variations in these genes is associated with SCZ

193 , testing their ability to preserve specific genetic variations, including aneuploidy levels and SNPs

194 tions between phenetic variation and neutral genetic variation indicate that EDJ morphology has evolv

195 Despite a lack of genetic variation, individuals of the elongated strain v

196 The extent to which germline genetic variation influences the risk of commonly report

197 ng how habitat loss and fragmentation impact genetic variation is a major goal in landscape genetics,

198 Mitochondrial genetic variation is associated with beta-cell functions

199 Often genetic variation is described by showing relationships

200 Altogether, our results suggest that genetic variation is enriched in G-quadruplex regions th

201 g the molecular mechanisms that give rise to genetic variation is essential for the understanding of

202 and normal cell elongation, and its natural genetic variation is involved in determining root growth

203 Thus, genetic variation leads to altered 3D chromatin architec

204 Cesarean delivery and CAPN14 genetic variation likely promote earlier disease develop

205 population-based approaches considering FADS genetic variation may be necessary to optimize the desig

206 f the current pandemic.IMPORTANCE Individual genetic variation may help to explain different immune r

207 Adaptive genetic variation may provide the raw material for speci

208 We hypothesize that genetic variations may predispose to neurodegeneration i

209 nd drive kidney disease, including how human genetic variation might affect disease predisposition an

210 ontext of hybridization, and the exchange of genetic variation, more generally.

211 We utilized phenotypic and genetic variation of 252 natural accessions of Arabidops

212 Genetic variation of alternative splicing is a prevalent

213 An additional aim was to describe the genetic variation of bovine S. aureus in Europa.

214 study indicate the potential existence of a genetic variation of E. fistula in the Red Sea.

215 he concern that DRAs present in the standing genetic variation of mosquito populations will be detrim

216 To identify genetic variation of postprandial TG independent of fast

217 To evaluate the genetic variation of salt tolerance among cotton species

218 The breadth of the genetic variation of SDP1 was exemplified by the intra-

219 s gap, we used 3' Seq to study the impact of genetic variation on alternative polyadenylation (APA) i

220 tudy the influence of temperature change and genetic variation on cell fate.

221 understand the effects of disease-associated genetic variation on functional readouts of chromatin in

222 vided insights into the regulatory impact of genetic variation on gene expression across human tissue

223 tigate the confounding effects of background genetic variation on neuronal function, the regulatory e

224 proaches for characterizing the influence of genetic variation on signaling networks and phenotypic d

225 e used metabolomics to unravel the effect of genetic variation on the strain-specific metabolic adapt

226 int to study the impact of SNVs derived from genetic variation or disease association on TF binding t

227 r results indicate conclusive differences in genetic variation, phenotype, and plasticity in this spe

228 (2020) shed light into the role genetic variation plays in control of ground state pluri

229 arriage etiopathogenesis is partly driven by genetic variation potentially related to placental biolo

230 This may be the result of the level of genetic variation present in monkeypox isolates circulat

231 clear how these mechanisms are modulated by genetic variation present throughout the population.

232 an excess of previously undocumented common genetic variation private to southern Africa, central Af

233 Thus, the biological mechanisms by which genetic variation promotes AF has thus far remained larg

234 harness CRISPR/Cas9 genome editing, natural genetic variation, proteomics, and transcriptomics.

235 red sex-biased gene regulation from standing genetic variation, rather than new mutations, is the dri

236 amatic changes in our understanding of human genetic variation, reappraisal of reported genetic cause

237 Adjustment for genetic variation removed the LTL differences among SSAs

238 Predicting the impact of noncoding genetic variation requires interpreting it in the contex

239 mics by revealing the full spectrum of human genetic variation, resolving some of the missing heritab

240 me editing technologies are needed to create genetic variation resources for functional genomics.

241 Overall, we observe that germline genetic variation shapes haematopoietic stem cell functi

242 Timelines based on spatial genetic variation showed that the mutations most influen

243 study - sufficiently large levels of initial genetic variation, size- and habitat-specific mating, su

244 that HGT alters the evolutionary dynamics of genetic variation, so that deleterious genetic variants,

245 ly challenging in the presence of continuous genetic variation such as isolation by distance.

246 ample, along with the intermediate levels of genetic variation suggest a small pool of related isolat

247 The fraction of disease risk attributable to genetic variation, termed heritability, is high, with es

248 Africa contains more human genetic variation than any other continent, but the majo

249 dern humans and African genomes contain more genetic variation than those from any other continent, y

250 , and there are differences in the levels of genetic variation that are explained by differences in t

251 may be groups within the species' range with genetic variation that could be essential for adapting t

252 ecies and is recognized as a major source of genetic variation that directly contributes to phenotypi

253 selection on key traits and maintaining the genetic variation that enables rapid adaptation in novel

254 ing the functional characterization of human genetic variation that impacts gene expression in cell-t

255 t change is therefore causing a reduction in genetic variation that may hinder future adaptation for

256 e introduce an alternative representation of genetic variation that reveals the relative abundance of

257 is is central in guiding the behavior of the genetic variation that shapes quantitative trait variati

258 uencing has revealed an increasing number of genetic variations that are associated with neuropsychia

259 e association studies have identified common genetic variations that may contribute to the risk of am

260 ccessful way of creating progeny with subtle genetic variations that the vast majority of eukaryotic

261 resence, frequency, and phenotypic impact of genetic variation, the evolutionary histories of most va

262 Statistical summaries of genetic variation therefore also describe the underlying

263 wo events also differed substantially in the genetic variation they generated, suggesting varying tra

264 etermine the contribution of rare and common genetic variation to AF risk in the general population.

265 Novel resilience traits exhibited sufficient genetic variation to be amenable to genetic improvement

266 ce-for-time substitutions linking changes in genetic variation to functions or traits relevant to the

267 s to characterize the contribution of common genetic variation to suicide attempt.

268 work demonstrates the contribution of common genetic variation to suicide attempt.

269 Linking natural genetic variation to trait variation can help determine

270 tive trait loci revealed the contribution of genetic variation to transcription and DNA methylation.

271 Thus, our work demonstrates that APA links genetic variation to variation in gene expression, prote

272 tremendous power to identify the functional genetic variation underlying trait evolution.

273 f genetics research to gain insight into the genetic variation underlying traits of interest.

274 Genetic variations underlying susceptibility to complex

275 How does the genetic variation underpinning such polymorphisms cross

276 We show that accounting for genetic variation using a modified reference genome or a

277 Additionally, FOLH1 genetic variation was correlated with neural activity du

278 Common genetic variation was estimated to account for 14% of va

279 NAAG levels and FOLH1 genetic variation were correlated with measures of cogni

280 Furthermore, patterns in genetic variation were linked to disparate environmental

281 have been complemented with population-based genetic variation, which is particularly important for N

282 tural variation alone but also may extend to genetic variations, which may modulate gene expression.

283 in their parents, are an important source of genetic variation whose impact is relevant to studies of

284 Here, we integrate estimates of genome-wide genetic variation with demographic and niche modeling to

285 ndelian diseases with co-occurrent EoE, rare genetic variation with large effect sizes could mediate

286 e advances create opportunities to integrate genetic variation with other biological layers to identi

287 RNA splicing is a key mechanism linking genetic variation with psychiatric disorders.

288 an genome reference, we identify genome-wide genetic variation within a cohort of 110 Egyptian indivi

289 has focused on exploiting the intraspecific genetic variation within a crop [Hajjar et al., Agric.

290 To better understand the impact of genetic variation within a locus of three FADS genes (FA

291 rder to investigate the extent and nature of genetic variation within and between individuals.

292 Genetic variation within CREs plays a central role in ph

293 but connection between neurodegeneration and genetic variation within glycosyltransferases is not new

294 quencing has uncovered unanticipated extreme genetic variation within mitochondrial DNA (mtDNA).

295 cently linked with the maintenance of a high genetic variation within natural populations, the factor

296 Breeding climate-resilient crops depends on genetic variation within naturally varying populations.

297 This heterogeneity may be explained by genetic variation within the fatty acid desaturase (FADS

298 The identification of genetic variation within the natural populations is like

299 pectedly, we find increased density of human genetic variation within transcription factor footprints

300 Genetic variations within IRF5 are associated with a ris