ライフサイエンスコーパス: genetic variation

1 tion in this phenotype attributable to viral genetic variation.

2 nts of recent positive selection on standing genetic variation.

3 iven by the convergence of environmental and genetic variation.

4 etions represent an important class of human genetic variation.

5 evolutionary change while depleting standing genetic variation.

6 n size can trigger corresponding declines in genetic variation.

7 increase through time, as selection sculpts genetic variation.

8 tory elements or the interpretation of human genetic variation.

9 hese differences are due at least in part to genetic variation.

10 cific environmental events on demography and genetic variation.

11 tion sequencing nor take advantage of shared genetic variation.

12 tructure that can encode arbitrarily complex genetic variation.

13 re climate conditions may affect patterns of genetic variation.

14 may enhance our functional understanding of genetic variation.

15 and likely effectiveness was associated with genetic variation.

16 substantial amounts of adaptive and neutral genetic variation.

17 itability (14-27%) support a role for common genetic variation.

18 on and bolting, exceeds that due to standard genetic variation.

19 in HIV-1 virulence is attributable to viral genetic variation.

20 nd with substantial inter-individual natural genetic variation.

21 ns and reusing them repeatedly from standing genetic variation.

22 ternal versus paternal BMI and incorporating genetic variation.

23 me of these differences could also depend on genetic variation.

24 e twin-based heritability arises from common genetic variation.

25 within genes to encapsulate population level genetic variation.

26 stration that AD+P is associated with common genetic variation.

27 e brain that are not caused by imprinting or genetic variation.

28 iability that is caused by environmental and genetic variation.

29 studies and clinical settings is to identify genetic variation.

30 ted, respectively, with adaptive and neutral genetic variation.

31 work to display large population datasets of genetic variation.

32 s to discover the functional consequences of genetic variation.

33 systems with no reliable databases of common genetic variations.

34 ssion is conditional on proinflammatory IL-1 genetic variations.

35 s have employed extensive data on individual genetic variation [11-23], their linguistic data have no

36 nalysis to examine the association of common genetic variation ( 8M single-nucleotide polymorphisms (

37 Comparing genetic variation across 18,668 protein-coding genes, we

38 Here we used natural genetic variation across a panel of 81 Drosophila lines

39 we use a multi-locus approach to examine how genetic variation across several OXTR single-nucleotide

40 their main gradients of adaptive and neutral genetic variation across the grid cells.

41 tant for explaining the observed patterns of genetic variation across the xeric Caatinga biome.

42 experimental validation to demonstrate that genetic variation affects expression of VAC14, a phospho

43 rapeutically relevant genes and consider how genetic variation affects off-target candidates for thes

44 Genetic variation affects the establishment of the gene

45 llion US dollars annually, the prevalence of genetic variation among GPCRs targeted by drugs is unkno

46 and diverse RV disease phenotypes.IMPORTANCE Genetic variation among human rhinovirus types includes

47 tterns of gene expression, despite extensive genetic variation among individuals.

48 nstrates the maintenance of lineage-specific genetic variation among local populations.

49 teppe, can be investigated using patterns of genetic variation among the people who lived in those ti

50 HPA axis genetic variation and activity were important predictors

51 to test for evidence of convergence between genetic variation and biological or behavioural determin

52 To understand the genetic variation and biology underlying AF, we undertoo

53 We performed an in vivo study of how genetic variation and chromatin organization may dictate

54 protein features underlying loss-of-function genetic variation and develop a machine learning method,

55 The connection between genetic variation and drug response has long been explor

56 The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pu

57 Little is known about how genetic variation and epigenetic marks interact to shape

58 estion of human immunodeficiency virus (HIV) genetic variation and evolution has been whether differe

59 regions showed substantial influence of both genetic variation and family environment.

60 tlenecks due to small founding sizes reduced genetic variation and fitness but did not prevent adapta

61 Mutation is the source of genetic variation and fuels biological evolution.

62 lated CpG sites may act as mediators between genetic variation and gene expression, and this relation

63 ically diverse indigenous ethnic groups, yet genetic variation and histories of peoples from this reg

64 However, connecting genetic variation and molecular mechanisms to individual

65 fferentiated wave-front populations with low genetic variation and potentially introgression from a l

66 the formation of crossovers (COs) generates genetic variation and provides physical links that are e

67 d highly insular populations, depauperate of genetic variation and significantly differentiated from

68 dies have produced extensive repositories of genetic variation and trait measurements across large nu

69 Monogenic disorders are caused by rare genetic variation and usually arise early in life.

70 Genetic variations and adverse environmental events in u

71 ful tool for detecting novel transcripts and genetic variations and for evaluating differential gene

72 1000 Genomes Project, while contributing to genetic variations and phenotypic diversity, generally d

73 sive analysis of proteoforms that arise from genetic variations and post-translational modifications

74 genetics, which studies the linkage between genetic variations and structural or functional measures

75 Thus, photoperiod cues, patterns of genetic variation, and summer heat waves could limit the

76 een variation produced by mutation, standing genetic variation, and the rate of evolution over the la

77 iants represent a tiny minority of all known genetic variation, and therefore there is necessarily an

78 e population reductions resulting in reduced genetic variation are accelerating disease emergence.

79 nvironmental variation on both selection and genetic variation are especially scarce.

80 es vary in natural populations and relate to genetic variation are key questions for unraveling the o

81 so robust methods to predict the effects of genetic variation are needed.

82 ing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets

83 Further, we identify cis-acting genetic variation as the greatest component influencing

84 Our analysis suggests natural genetic variation as the most informative perturbation f

85 We found a temporal increase in neutral genetic variation, as well as temporal instability in po

86 loci (eQTL) analysis is a method to identify genetic variation associated with gene expression change

87 8 years explained only approximately 50% of genetic variation at 17 years.

88 tricle and provides compelling evidence that genetic variation at 6q22.31 (rs9388451) is associated w

89 e correlation between pairs of traits due to genetic variation at a small region in the genome.

90 These two diversifying forces promote genetic variation at different spatial scales, and may a

91 insight into these mechanisms, showing that genetic variation at hundreds of causal genes may underp

92 By analysing genetic variation at the mitochondrial and nuclear micro

93 n balance and balancing selection in shaping genetic variation at various scales.

94 cifics, as this could diminish the amount of genetic variation available to selection to act upon.

95 component of the genome, and have led to its genetic variation becoming a key part of studies of huma

96 es are limited to panels of haplotypes whose genetic variation can be represented by arrays of values

97 Studies of naturally occurring genetic variation can be used to anticipate the expected

98 associations we found indicate that human TE genetic variation can have important phenotypic conseque

99 ng linear regression, evidence suggests that genetic variation can impact the entire distribution of

100 otential regulatory mechanisms by which host genetic variation can interact with microbiome compositi

101 roaches can be utilized to explain how human genetic variation can modulate the effects of the microb

102 The extent to which human genetic variation caused by recent TE activity leads to

103 eatic islets to understand the links between genetic variation, chromatin landscape, and gene express

104 ge, this study is the first report of common genetic variation conferring gallbladder cancer risk at

105 examples, we explored and validated how the genetic variations contribute to the phenotype changes.

106 Genetic variation contributes substantially to AF risk.

107 Understanding how genetic variation contributes to phenotypic differences

108 ty varies among individuals, but how natural genetic variation contributes to variation in lifespan i

109 nked to numerous diseases, understanding how genetic variation contributes to vitamin D dose-response

110 d in HD-ALL blasts consistent with inherited genetic variation contributing to arrest of normal lymph

111 tani Parsi populations using high-resolution genetic variation data on autosomal and uniparental loci

112 rmat (VCF) is a popular standard for storing genetic variation data.

113 del allelic effects as a function of axes of genetic variation, derived from a matrix of mean pairwis

114 Our results show that genetic variation determines a significant portion of ci

115 nd Prevotella copri) or continuous microbial genetic variations (e.g., for Faecalibacterium prausnitz

116 rd, study designs that interrogate and model genetic variation [e.g., allelic profiling and (epi)geno

117 A chemo-genetic variation enabling chemical control of ubiquitin

118 ifted from secondary to primary root growth, genetic variation exists for this response, and reduced

119 ritain appeared to be an important source of genetic variation for both species.

120 generations depend strongly upon interacting genetic variation for dormancy and flowering.

121 The presence of genetic variation for mesophyll conductance suggests tha

122 e it imperative to identify novel sources of genetic variation for tolerance traits, especially in ri

123 quantitative trait loci (eQTL) indicate that genetic variation frequently alters gene expression in c

124 The second, rare genetic variation from natural populations allows the st

125 The functional impact of genetic variation has been extensively surveyed, reveali

126 , and an in-depth understanding of how their genetic variation has been shaped by their demographic h

127 used by an expanded CAG repeat tract in HTT, genetic variation has been uncovered that is associated

128 Recently, a role for human genetic variation has emerged as also influential in acc

129 Efforts to uncover predisposing genetic variation have been considerable, yet detailed k

130 The finding that genetic variation identified by trait GWASs partially ca

131 However, the extent and types of genetic variation impacting embryonic gene expression, a

132 000 Genomes data sets to determine how human genetic variation impacts target choice for Cas endonucl

133 Here, we explore genetic variation in a collection of 3,012 georeferenced

134 We found that genetic variation in A. ocellifera has been influenced m

135 This genetic variation in adaptability and pleiotropy is larg

136 nisms that are more adaptable, provided that genetic variation in adaptability exists.

137 Taken together, our data demonstrate that genetic variation in BAG3 plays an important role in the

138 We found abundant genetic variation in both constitutive and induced trait

139 ted with a small but significant decrease in genetic variation in both species.

140 the first comprehensive characterisation of genetic variation in bovine beta-defensin genes and func

141 However, host genetic variation in cattle susceptibility to bTB provid

142 ical risk predictors of POAG and showed that genetic variation in CDKN1A is important in POAG risk.

143 hese results demonstrate a critical role for genetic variation in ChrY in regulating susceptibility t

144 /6J background, we present data showing that genetic variation in ChrY influences IAV pathogenesis in

145 vering mechanistic function and interpreting genetic variation in coding genes comprising protein com

146 performance and a potential role of HPA axis genetic variation in cognition.

147 rovement in our understanding of the role of genetic variation in complex human diseases, especially

148 Genetic variation in dispersal ability may result in the

149 in the microglial inflammatory response; and genetic variation in DLG4 is associated with structural

150 three major approaches taken in the study of genetic variation in drought responses, the advantages a

151 Identifying individual genetic variation in drug metabolism pathways is of impo

152 Genetic variation in FCGR genes has been associated with

153 altitudinal gradients, to determine whether genetic variation in fitness responses could facilitate

154 Little is known about genetic variation in host resistance and tolerance acros

155 Genetic variation in human populations is influenced by

156 The exploration of genetic variation in HvP5CS1 may facilitate a better und

157 tinase-like protein YKL-40 are influenced by genetic variation in its encoding gene (chitinase 3-like

158 gs highlight the importance of (i) measuring genetic variation in key traits under ecologically relev

159 ing buffer that shapes the manifestations of genetic variation in model organisms.

160 Meiotic recombination is the foundation for genetic variation in natural and artificial populations

161 to quantify its contribution to maintaining genetic variation in natural populations.

162 information exists for long-term changes in genetic variation in natural populations.

163 Thus, genetic variation in NFAT5 and SLC4A10 expression and fu

164 Interpreting genetic variation in noncoding regions of the genome is

165 addiction, particularly in individuals with genetic variation in NRG3.

166 hich 46% could be assigned to plasticity and genetic variation in plasticity and 33% to genetics (con

167 ndamental to sexual reproduction and creates genetic variation in progeny.

168 r.) is a widely grown oilseed crop and shows genetic variation in response to elevated [CO2 ].

169 nt a unique opportunity to study the role of genetic variation in shaping the recombination landscape

170 r finding expands the phenotypic spectrum of genetic variation in SLC1A3 and highlights impaired K(+)

171 enetics and psychology theories predict that genetic variation in social environment construction sho

172 discuss the functional implications of human genetic variation in the eCB system for the risk for anx

173 Here, we analyzed the genetic variation in the FOXP2 coding sequence in 63 chi

174 We conclude that although genetic variation in the HLA region is important to the

175 Natural genetic variation in the human genome is a cause of indi

176 as been made in the functional annotation of genetic variation in the human genome.

177 Genetic variation in the IFNL3-IFNL4 (interferon-lambda3

178 shows that gene-expression changes driven by genetic variation in the kidney can highlight potential

179 Genetic variation in the leucine-rich repeat kinase 2 (L

180 Studies that include genetic variation in the pathogen have begun to highligh

181 dentified 97 DMCs that were affected by Bhmt genetic variation in the same region, with 7 overlapping

182 te for successful selective breeding is high genetic variation in the target population, so we establ

183 Comprehensive analyses of the effects of genetic variation in the vitamin D pathway on response t

184 spects of the Caatinga landscape and spatial genetic variation in the whiptail lizard Ameivula ocelli

185 entation is the dominant process structuring genetic variation in these salamander species.

186 DNA from other individuals, suggesting that genetic variation in this gene is frequent.

187 ults are consistent with the hypothesis that genetic variation in transcription factor expression con

188 ronmental conditions influence selection and genetic variation in wild populations?

189 and as numerous mutations and non-synonymous genetic variation in ZnT2 have been detected in women th

190 Genetic variations in complement factor H (CFH) confer g

191 Previously, we observed that genetic variations in ECM genes are associated with an i

192 data for additional potentially deleterious genetic variations in genes of relevance to the cornific

193 Genetic variations in the ITGAM gene (encoding CD11b) st

194 tus (T2DM) patients and this might be due to genetic variations in vitamin D receptors (VDRs).

195 me and generates inter- and intra-individual genetic variation, in some cases resulting in disease.

196 ng loss of 69% of the species' mitochondrial genetic variation, including the most ancestral lineages

197 ayal of demographic inferences and highlight genetic variation indicative of selection at specific ge

198 Previously it was assumed that genetic variation influenced POAG either through IOP or

199 e-control samples to determine whether viral genetic variation influences risk of cervical precancer

200 insight into the mechanisms by which common genetic variation influences type 2 diabetes risk and gl

201 f the current study was to determine whether genetic variation influencing both sleep and glucose reg

202 tendencies were reported for this syndrome, genetic variations influencing risk and disease progress

203 for widespread integration of surrogates for genetic variation into conservation planning.

204 epidemiological studies to quickly elucidate genetic variation involved in the etiology of complex tr

205 Genetic variation is an important determinant of RNA tra

206 Genetic variation is identified mainly by mapping short

207 tation may prove particularly important when genetic variation is lacking, such as in small, bottlene

208 iology and suggests that Neanderthal-derived genetic variation is neurologically functional in the co

209 ls of genetics research is to understand how genetic variation leads to phenotypic differences and hu

210 ic genes can evolve rapidly and that natural genetic variation may have led to a SLO3 variant that di

211 ough validation, quantification of inherited genetic variation may prove useful for stratifying AD ri

212 If this function could be validated, then genetic variations may associate with IBD.This study aim

213 These results demonstrate that COMT genetic variations modulate the retrieval of remote memo

214 Making robust connections between genetic variation, neurophysiology, and social behavior

215 The mice had genetic variations not present in other outbred mouse po

216 Variant call format (VCF) files document the genetic variation observed after DNA sequencing, alignme

217 To have a global landscape of genetic variation of F11, we explored publicly available

218 To more comprehensively characterize genetic variation of pigs (Sus scrofa), we generated de

219 rther observe a higher intolerance to normal genetic variation of the identified genes compared to kn

220 Our results indicate that a common genetic variation of the noradrenergic system modulates

221 We report here that a common genetic variation of the noradrenergic system, a known r

222 We combined genetic variations of the 294 sequenced genes from publi

223 fell outside of these motifs, implying that genetic variation often affects the binding affinity onl

224 In order to determine the influence of genetic variation on A-to-I RNA editing, we integrate ge

225 Here, we examine the effect of human genetic variation on both on- and off-target specificity

226 re research is needed to identify effects of genetic variation on distant genes (trans-eQTLs) and und

227 egion sequencing, we evaluated the effect of genetic variation on DNA regulatory elements (DREs).

228 The impact of inherited genetic variation on gene expression in humans is well-e

229 nd iPSC-derived cells to study the impact of genetic variation on gene regulation across different ce

230 plausible mediator of the impact of adjacent genetic variation on human adiposity.

231 ssing and suggests a diverse impact of human genetic variation on miRNA biogenesis.

232 Our results indicate that cumulative genetic variation on the OXTR impacts reward system conn

233 Moreover, we show a widespread effect of genetic variation on the regulation of transcription, is

234 ks to gain insights into the impact of human genetic variation on the structure, chemistry, and funct

235 besity and related traits, but the impact of genetic variation on these associations is poorly unders

236 ent published hypotheses on the influence of genetic variation on this clinically important measure a

237 Here we assessed the effect of genetic variation on transcriptional (expression levels)

238 ether this aberrant methylation results from genetic variation or non-genetic mechanisms, we generate

239 y at neutral microsatellite and adaptive MHC genetic variation over five decades in four marginal Atl

240 s show high genetic and idiolectal variation-genetic variation owing to heterogeneity in ancestry wit

241 eep sequencing of wild populations to reveal genetic variation patterns in prochlorosin genes.

242 wild C. elegans to study naturally occurring genetic variation, paving the way for SNP mapping and QT

243 rates of increase of inbreeding and loss of genetic variation per generation will be relatively high

244 the importance of integrating information on genetic variation, phenotypic plasticity and climatic ni

245 is activity, clinical symptomatology and HPA genetic variation play in cognitive performance.

246 This suggests that genetic variation plays a role in differential CAE drug

247 GR and MR genetic variation predicted unique cognitive functions,

248 ci identified to date, a large proportion of genetic variation predisposing to complex disease and tr

249 ation is only 20% penetrant, suggesting that genetic variation provides modifiers that alleviate the

250 mune genes by positive selection that erodes genetic variation (Red Queen arms race) or results in a

251 d accessions, their population structure and genetic variations remain largely unknown.

252 the challenging interpretation of individual genetic variations requires an accurate phenotypic descr

253 An analysis of worldwide human genetic variation reveals the footprints of ancient chan

254 ese surrogates can predict the proportion of genetic variation secured in randomly generated solution

255 In addition to the effect of meiosis on genetic variation, sequence polymorphisms between homolo

256 d be expanded to include mechanisms by which genetic variation shapes the environments that individua

257 Genetic variation shared between closely related species

258 tudies have found evidence of high levels of genetic variation structured across the Great Rift Syste

259 s maintained in populations, we investigated genetic variation surrounding the amino acid variant tha

260 plications for increasing the scope of human genetic variation that can be detected before birth, and

261 h represents an efficient method to identify genetic variation that can guide the selection of therap

262 nologies, have allowed the identification of genetic variation that does not cause disease, but subst

263 cedented resolution and identified extensive genetic variation that has remained hidden until now.

264 thin psychiatry, the many different forms of genetic variation that might influence psychiatric trait

265 d considerable interest as a type of genomic/genetic variation that plays an important role in diseas

266 The abundance of important genetic variation that still evades discovery highlights

267 neages facilitated this process by providing genetic variation that subsequently became recombined an

268 racing cell lineages and discovering cryptic genetic variations that would otherwise be obscured in t

269 However, genetic variation, the raw material for evolution, is di

270 Uncovering genetic variation through resequencing is limited by the

271 ional tool, demuxlet, that harnesses natural genetic variation to determine the sample identity of ea

272 ueen dynamics) and long-term preservation of genetic variation (trans-species polymorphism).

273 c studies identify genomic loci representing genetic variations, transcription factor (TF) occupancy,

274 Our findings highlight that intra-specific genetic variation underlies prey responses to consumptiv

275 enetic component, efforts to identify common genetic variation underlying depression have largely bee

276 e recombinant population of rice to identify genetic variation underlying important traits.

277 The genetic variation underlying many heritable forms of car

278 rovide empirical support for overlap between genetic variation underlying the pathophysiology of schi

279 ding genes for an excess of rare deleterious genetic variation using whole-exome sequence data from 2

280 GR genetic variation was implicated in attention and workin

281 The genetic variation was mapped for contemporary and future

282 Extremely high COI genetic variation was observed, with 146 polymorphic sit

283 Based on microsatellites, genetic variation was similar in S and NS populations (a

284 Genetic variation was the most useful predictive marker

285 o environmental variables that explained the genetic variation were photoperiod and the onset of spri

286 ing GWAS and identified probable hotspots of genetic variation which correlate with phenotypes of res

287 tion was mostly maintained in the absence of genetic variation, which emphasized the low heritability

288 long reads also enable efficient phasing of genetic variations, which we leveraged to determine the

289 To identify common or rare genetic variation with potential therapeutic implication

290 ng been recognized as an important source of genetic variation, with implications in phenotypic diver

291 eparate closely related species, we analysed genetic variation within and between four S and four NS

292 s, we find that GPCRs targeted by drugs show genetic variation within functional regions such as drug

293 f resistance and tolerance, thus maintaining genetic variation within goldenrod populations.

294 A genetic variation within mosquito fibrinogen related-pro

295 pectrum resistance and how it is affected by genetic variation within pathogen species and between pa

296 rstanding the evolutionary forces that shape genetic variation within species has long been a goal of

297 Genetic variation within the hypothalamic-pituitary-adre

298 races, and cultivars was sequenced to assess genetic variation within tuber-bearing Solanum and the i

299 ies) of domesticated species preserve useful genetic variation, yet they remain untapped due to the g

300 S: Helicobacter pylori is remarkable for its genetic variation; yet, little is known about its geneti