ライフサイエンスコーパス: allelic

1 ichomes, suggesting that the two mutants are allelic.

2 nal chromatin, while imprinted genes exhibit allelic accessibility bias.

3 in ovarian, breast and prostate cancers, bi-allelic alterations are mutually exclusive of each other

4 members of the HR pathway and if mono- or bi-allelic alterations of HR-related genes have a phenotypi

5 These bi-allelic alterations often associate with genomic feature

6 pig embryos to generate offspring with mono-allelic and bi-allelic mutations.

7 Microsatellites are multi-allelic and composed of short tandem repeats (STRs) with

8 a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which h

9 describe a large-scale coordinated study of allelic and non-allelic effects on DNA methylation, hist

10 Several of these mutations are allelic and we have identified the mutant gene by genome

11 sts between spp1 and spp3 revealed they were allelic, and deep sequencing of spp3 identified an indep

12 pecies, integrated linkage-association multi-allelic approaches are likely to produce better combinat

13 p imputation approach to examine the broader allelic architecture of 12 anthropometric traits associa

14 Our data highlight general properties of the allelic architecture of complex traits, including the pr

15 erse populations to extend insights into the allelic architecture of complex traits.

16 idence for genetic differences in the common allelic architecture of neuroticism by sex.

17 These findings improve understanding of the allelic architecture of risk factors for cardiometabolic

18 Gene expression and allelic association between the two groups were explored

19 and feasibility, we conducted a family-based allelic association study for Kawasaki Disease, with dat

20 Allelic associations between TJ-related genes (F11R, MAG

21 l analytical approach to explore these multi-allelic associations by systematically examining HLA mol

22 The two strongest allelic associations were observed between IBD and SNPs

23 dies (GWAS) have identified multiple, shared allelic associations with many autoimmune diseases.

24 Using a new approach of allelic ATAC-seq, we demonstrate that the Igkappa V alle

25 Here we demonstrate that bi-allelic Atm deletion in mouse models of Kras-mutant lung

26 adruple vic mutant strains representing both allelic backgrounds of the remaining vic locus were then

27 ilable microsatellite data exhibited diploid allelic band patterns at their loci whereas another locu

28 Aggregate allelic bias signatures in TF footprints enabled us de n

29 he most GMAS events and demonstrating global allelic binding bias.

30 The greatest allelic burden was in patients with increased reticulin

31 Allelic choice at RAMA elements was stable across cell g

32 Quantitative analysis indicated that allelic choice at the majority of RAMA elements is consi

33 iation of symmetric breaking, the underlying allelic choice mechanisms and dynamic regulation respons

34 t incorporates genetic risk at three levels: allelic, chromatin interactomic, and brain transcriptomi

35 mber variant (CNV) regions, especially multi-allelic clusters, identified from whole-genome sequencin

36 However, allelic co-transcription of both genes is statistically

37 together, hindering the generation of novel allelic combinations that could be exploited by breeding

38 Such allele separation and allelic compartmentalization can be found as late as the

39 heterologous cell fusion assay in vitro and allelic complementation experiments in mymk knockdown an

40 l approach for modeling the evolution of the allelic composition of the tumor and normal tissue at ea

41 human genome are highly polymorphic, and the allelic content on each strand can dictate a person's bi

42 inated on the basis of their relative mutant allelic content.

43 duced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated

44 scriptome and phased WGS data to investigate allelic DAP interactions and the impact of heterozygous

45 hod is robust with use of large-scale, multi-allelic data sets or with meta-analyses of smaller QTL d

46 Including a genic (and allelic) descriptor with the disease name will provide o

47 tterflies, birds), motivating the search for allelic differences affecting flower color pattern in cl

48 These subclusters were defined by specific allelic differences in 5 core genes encoding glycerate k

49 SCALE detects genes exhibiting allelic differences in bursting parameters and genes who

50 nt count differences between individuals and allelic differences within individuals.

51 /or immune cell lines, and seven SNPs showed allelic differences.

52 applied long-range haplotype- and multilocus allelic differentiation-based methods to detect selectio

53 rrelation between diversifying selection and allelic differentiation.

54 (ASE) analysis, which demonstrated that the allelic directionality of eQTLs and ASE patterns correla

55 tus was determined by pyrosequencing method, allelic discrimination, or Sanger sequencing.

56 nvolvement that distinguishes CMT2D from the allelic disorder distal spinal muscular atrophy type V.

57 rnally inherited gingival fibromatosis is an allelic disorder with cardiac arrhythmia syndromes cause

58 In this study, we examined the allelic distribution of rs1137070 in 1,035 heroin abuser

59 Allelic distribution was similar in all three groups.

60 In addition, allelic diversity and gene flow are partitioned by latit

61 Allelic diversity and richness remained low in the remai

62 Studies revealing the allelic diversity are important as they shed light on ou

63 While allelic diversity can be maintained at a locus by direct

64 cture varied at regional spatial scales, and allelic diversity correlated with geographic distance.

65 Our results provide a striking example of allelic diversity generated by duplication and demonstra

66 pothesis, we show that functional aspects of allelic diversity help to elucidate the evolution of pol

67 High allelic diversity in HLA is argued to be maintained by b

68 We found that allelic diversity in the network declined after the demo

69 The adaptive value of high allelic diversity of opsins, a light sensitive protein,

70 om a historical egg bank, and no increase in allelic diversity was detected with time.

71 Furthermore, the effect of connectivity on allelic diversity was important during the demographic r

72 ter the demographic bottleneck but that less allelic diversity was lost from populations occupying ha

73 distributions of the VNTR copy numbers, the allelic diversity, and the low prevalence of ISMav6 diff

74 The nine populations showed high allelic diversity, mainly due to very high heterozygosit

75 tions, we observed a progressive increase of allelic diversity.

76 1 per 50 bases suggestive of high levels of allelic diversity.

77 picuous species in this group presented high allelic diversity.

78 rley Diversity Collection (WBDC) to maximize allelic diversity.

79 ous pair relevant to WRI1, complementary non-allelic dosage effects of the GmLEC1a/GmLEC1b homoeologo

80 g of droplet MDA product to achieve a median allelic dropout of 15%, and using whole genome sequencin

81 l DNA sequencing, as they do not account for allelic dropout, false-positive errors and coverage nonu

82 For most fetal SNPs, a dose-response allelic effect was observed.

83 regression accurately quantifies individual allelic effects and overcomes bias from hitchhiking muta

84 uantified the contribution of genic and PKD1 allelic effects and sex to the ADPKD phenotype.

85 ian approach to account for heterogeneity in allelic effects and variation in the structure of linkag

86 on studies in any human population, yet the allelic effects are evaluated in a population-specific f

87 employ trans-ethnic meta-regression to model allelic effects as a function of axes of genetic variati

88 ht is due to the positive covariance between allelic effects at different loci, which is caused by as

89 oss a range of scenarios of heterogeneity in allelic effects between ethnic groups.

90 However, heterogeneity in allelic effects between GWAS at these loci can occur tha

91 The directions and magnitudes of the allelic effects for most of the 10 SNPs were comparable

92 ios, respectively, with low or even negative allelic effects in favorable scenarios.

93 mouse genetics strategies to uncover diverse allelic effects in the brain that are not caused by impr

94 d conservation of other potential epigenetic allelic effects in vivo in the mouse and primate brain.

95 -effects meta-analysis when heterogeneity in allelic effects is correlated with ancestry.

96 Although the set of risk variants and their allelic effects may vary between populations, a large pr

97 from ChIP-seq data are key to dissecting the allelic effects of non-coding variants and their contrib

98 the mutational effects were much larger than allelic effects of standing polymorphisms.

99 e-scale coordinated study of allelic and non-allelic effects on DNA methylation, histone mark deposit

100 )) with kidney function and highlighted that allelic effects on eGFR at lead SNPs are homogeneous acr

101 We found allelic effects that are developmental stage and cell ty

102 vation and genomic imprinting are epigenetic allelic effects that are well known to influence genetic

103 Finally, we show that diverse non-genetic allelic effects that impact mental illness risk genes ex

104 ts: (i) strong evidence for heterogeneity in allelic effects that is correlated with ancestry only at

105 and quantify the extent of heterogeneity in allelic effects that is correlated with ancestry.

106 influence the trait and their corresponding allelic effects.

107 is necessary to identify broadly applicable 'allelic elements'.

108 ;p53-null mice frequently exhibit Kras(G12D) allelic enrichment (Kras(G12D)/Kras(wild-type) > 1), imp

109 e similar across genetic scales and included allelic exchange as well as gene gain and loss.

110 ols to generate stable targeted mutations by allelic exchange in Ehrlichia chaffeensis, an obligate i

111 Fluorescence-reported allelic exchange mutagenesis (FRAEM) now enables the com

112 nes, and also to restore one gene by another allelic exchange mutation leading to the restoration of

113 Allelic exchange of partial sequences of Pyheul in the c

114 Allelic exclusion describes the essential immunological

115 and exploration of new biological models for allelic exclusion in the human genome.

116 istoric immunological conundrum for how Tcrb allelic exclusion is mediated.

117 genous TCR Vbeta expression, consistent with allelic exclusion of Vbeta-encoding loci.

118 ng, drives a "winner-takes-all" mechanism of allelic exclusion.

119 We demonstrate that allelic expression arising from genetic or epigenetic di

120 stimates independently derived from eQTL and allelic expression data are highly consistent, and ident

121 elines for estimating aFC from both eQTL and allelic expression data sets and apply it to Genotype Ti

122 >T [p.Arg860Trp]) was overrepresented due to allelic expression imbalance (AEI).

123 ST occurs in fused cells and precedes the bi-allelic expression of selected Xi-genes by many heteroka

124 f publications is the question of how skewed allelic expression should be for it to be designated as

125 amples from 19 cancer types, and integrating allelic expression, overall mRNA expression, regulatory

126 C1 and AaCHE-AtHD1 interactions reduce AtCC1 allelic expression.

127 lation of allelic gene body methylation with allelic expression.

128 at increase power and accuracy in studies of allelic expression.

129 Neonatal T4 restored maternal allelic expressions of the imprinted Dio3 and Igf2 in th

130 where they may be silent, perhaps reflecting allelic factors.

131 gG1 and IgG3 specific for MSP119, MSP2 (both allelic families, 3D7 and FC27), MSP3, GLURP (both regio

132 this paper, we describe and characterize log allelic fold change (aFC), the magnitude of expression c

133 Here we report an analysis of multiple allelic forms of G6PD deficiency in a large multi-centre

134 nalyzed the retinal transcriptome of two non-allelic forms of RP in dogs, rcd1 and xlpra2, at clinica

135 In three lines, the allelic fraction exceeded 50%, suggesting additional sel

136 ethylation changes, often present in a minor allelic fraction in clinical samples such as plasma-circ

137 We found that the TP53 mutant allelic fraction increased with passage number under sta

138 , which allows us to identify mutations with allelic fractions down to 0.03% in a whole exome sequenc

139 e data for 1KG SNPs and indels, and computes allelic frequencies for 1KG populations and optionally,

140 sequilibrium between variants with different allelic frequencies in the founding populations and it c

141 We analyzed the association between allelic frequencies of GT repeats in the HMOX1 gene prom

142 On the basis of clinical phenotype, the high allelic frequencies of LQT6 mutations in the Exome Aggre

143 ction algorithm scores, conservation scores, allelic frequencies, clinical information and additional

144 , c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 x 10(-12), odds rati

145 ses and revealed a good correlation with the allelic frequency of the MAP2K1 mutation.

146 ariance explained was distributed across the allelic frequency spectrum, although relatively common S

147 model, we also find positive correlation of allelic gene body methylation with allelic expression.

148 nge often incorporates regions of <1 kb, and allelic gene conversion changes the frequency of small r

149 Genomic imprinting is an allelic gene expression phenomenon primarily controlled

150 Contrary to the view that non-allelic genetic heterogeneity hampers gene discovery, th

151 Furthermore, analyses of allelic genome sequences of several populations within t

152 S192Y with a deleterious mutation in a 'tri-allelic genotype' can account for missing heritability i

153 nfer and differentiate between different epi-allelic haplotypes, annotated with CpG methylation statu

154 wn aspect of complex traits is the extent of allelic heterogeneity (AH) arising from multiple causal

155 se of dilated cardiomyopathy (DCM); however, allelic heterogeneity (TTNtvs in different exons) result

156 ci) are genetically complex, exhibiting both allelic heterogeneity and epistasis.

157 ent with the presence of prominent locus and allelic heterogeneity in BD and suggest that very large

158 These findings identified some evidence for allelic heterogeneity in Chinese when compared with Euro

159 studied expression quantitative trait locus allelic heterogeneity through conditional association an

160 a highly polygenic trait, but also has high allelic heterogeneity within its established hundreds of

161 us, researchers must assess the magnitude of allelic heterogeneity within the locus.

162 This is possibly due to small sample size, allelic heterogeneity, small effect sizes of single gene

163 f Drosophila melanogaster We found extensive allelic heterogeneity, with a sample of seven alleles of

164 The auditory phenotype and allelic hierarchy observed among patients should be cons

165 might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus

166 elements is associated with repeats and non-allelic homologous recombination and furthermore that yo

167 yndrome (22q11.2DS) is caused by meiotic non-allelic homologous recombination events between flanking

168 e high alignment scores, suggesting that non-allelic homologous recombination has played a significan

169 itecture of chromosomal alterations inducing allelic imbalance (AI) in the airway field of the most c

170 However, most methods of detecting an allelic imbalance assume diploid genomes.

171 ulted from a hypomorphic p.Y91H mutation and allelic imbalance established in this population through

172 eloped hapLOHseq for the detection of subtle allelic imbalance events from next-generation sequencing

173 Allelic imbalance in chromatin accessibility and diverge

174 Focusing on Kras allelic imbalance, a feature shared by all three models,

175 o transcriptional bursting causing temporary allelic imbalance.

176 of 1,168 (55%) with KRAS mutations exhibited allelic imbalance.

177 ds to a personal genome, and then measuring 'allelic imbalances' between the numbers of reads mapped

178 ndent gene expression, splicing patterns and allelic imbalances.

179 he HLA region, differences in sequencing and allelic imputation methods, and diversity across ethnic

180 the authors show that mutually exclusive bi-allelic inactivation of HR genes are present in other ca

181 likely congenital tumor that arises from bi-allelic inactivation of NF1.

182 e light chain lambda and the significance of allelic inclusion in B cells in sepsis require further i

183 We tested whether light chain allelic inclusion occurs in circulating B cells.

184 on reflects an overdominant effect; that is, allelic interaction (cumulative evidence p = 1.33 * 10(-

185 port a hitherto unknown overdominant effect (allelic interaction) at this locus, where the heterozygo

186 sion is controlled via complex epistatic and allelic interactions between rDNA haplotypes that appare

187 This fine-grain mapping uncovered extensive allelic interactions within enhancers that have opposite

188 owed that although RASA1 mutations are rare, allelic loss is frequent, particularly in basal tumors (

189 y CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating wit

190 Nearly 3% of the human population carries bi-allelic loss-of-function variants in the gene encoding C

191 ncestry-specific allele frequencies for a bi-allelic marker given genotypes and local ancestries on a

192 ion from an HLA-identical sibling or a 10/10 allelic-matched unrelated donor in the same period.

193 of allele-specific methylation (ASM) and non-allelic methylation (mQTL).

194 d predicts the strength and direction of the allelic methylation asymmetry.

195 We also observed that the allelic methylation patterns for the vast majority of th

196 We discovered bi-allelic missense mutations in ADAMTS3.

197 ction of ZFP423 in neurogenesis, we analyzed allelic murine mutants in which distinct functional doma

198 om a total of 72 tested, we identify 6 miRNA allelic mutant backgrounds that modulate the survival re

199 nt the isolation and characterization of two allelic mutants, twisted seed1-1 (tws1-1) and tws1-2, wh

200 y defects in peroxisome biogenesis due to bi-allelic mutations in any of 13 different PEX genes.

201 Bi-allelic mutations in ARSs typically cause severe, early-

202 Here, we report bi-allelic mutations in GPAA1 in ten individuals from five

203 magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyphosp

204 st rate, increased the number of targeted bi-allelic mutations, and resulted in similar degree of mos

205 generate offspring with mono-allelic and bi-allelic mutations.

206 x membrane system, we have characterized the allelic nuclear mutants high chlorophyll fluorescence222

207 We now report human bi-allelic P4HA1 mutations in a family with a congenital-on

208 me Atlas (TCGA) data set and observe that bi-allelic pathogenic alterations in homologous recombinati

209 We report bi-allelic pathogenic mutations in MDH2 in three unrelated

210 Previously identified allelic patterns in urethritis-associated N. meningitidi

211 approaches to visualise the distribution of allelic patterns.

212 of 59 genotypes of Arabidopsis thaliana with allelic perturbations known to affect flowering time.

213 The identification of bi-allelic PKD1L1 mutations recapitulates previous findings

214 ations in OsARF genes showed the presence of allelic polymorphisms in few gene loci.

215 ; whole cluster gain and loss polymorphisms; allelic polymorphisms, in which different alleles corres

216 nd sensitivity, were designed to distinguish allelic products based upon expressed polymorphic varian

217 campylobacteriosis cgMLST scheme (v1.0), the allelic profiles of which can be assigned to core genome

218 terrogate and model genetic variation [e.g., allelic profiling and (epi)genome editing] will be criti

219 4-log reduction in PB-MRD, but not FLT3-ITD allelic ratio, remained of significant prognostic value.

220 The strong correlation between non-allelic recombination events and the effects of the alte

221 ere determined to frequently result from non-allelic recombination events, including non-reciprocal t

222 ter assays demonstrated that rs9920291 shows allelic regulatory activity, and CRISPR/Cas9 targeting o

223 Allelic replacement mutagenesis of cpt in T. denticola r

224 e these results, these genes were mutated by allelic replacement, and resultant mutants were retested

225 monstrated to enhance xylose fermentation by allelic replacements.

226 ) and genetic model (dominant, recessive, or allelic) reported in the original study.

227 llows selective introduction of mono- and bi-allelic sequence changes with high efficiency and accura

228 zed genome-editing technology to generate an allelic series in the mouse.

229 -wide association studies have identified an allelic series of CARD9 variants associated with increas

230 g a forward genetic screen, we identified an allelic series of GmSHMT08 mutants that shed new light o

231 Combining this approach with an allelic series of knock-in mice carrying frequent RTT-as

232 bolism during development with a progressive allelic series of Mpc1 deficiency in mouse.

233 Overall, this allelic series recapitulates human RTT severity, reveals

234 This allelic series revealed that different substitutions exh

235 and tractable for generation of programmable allelic series with a range of expression levels.

236 e GIT1 variants revealed the existence of an allelic series with the majority of the SCZ case variant

237 o better understand TTNtv, we integrated TTN allelic series, cardiac imaging and genomic data in huma

238 e the epigenetic mechanisms underlying these allelic sites.

239 We used RNA sequencing of allelic six-rowed spike3 (vrs3) mutants with altered spi

240 s resulted in 32,313 highly confident and bi-allelic SNP markers.

241 Last, allelic-specific expression analysis revealed a signific

242 To determine the dynamics of allelic-specific expression during mouse development, we

243 ella were also short, resembling those of an allelic spoke-less mutant.

244 ere the fitness is a random function of both allelic state and spatial position, despite neither alle

245 Determining the allelic state of the HLA genes (HLA typing) as a by-prod

246 followed by binomial tests for genotype and allelic status at SNV positions between compatible seque

247 Here, we have implemented a scalable mono-allelic strategy for profiling the HLA peptidome.

248 several epigenetic regulators, recovering bi-allelic targeted clones with a high efficiency of 60% an

249 Three allelic Tnt1 insertion mutants, mtbri1-1, mtbri1-2, and

250 nd that mice carrying a spontaneous mutation allelic to the most common mutation found in patients di

251 ion tests revealed that both pf mutants were allelic to the y locus and showed the same recessive nul

252 hich the enhancer of a gene can regulate the allelic transcription intrans.Interallelic interactions

253 sequencing, we identified three different bi-allelic truncating mutations in TANGO2 in three unrelate

254 uld include the disease and gene names, with allelic (truncating/nontruncating) information included

255 Here we investigate the allelic types found in Pitheciidae, an understudied New

256 When we investigated the influence of allelic variability of the Eif2s1 gene (encoding eIF2alp

257 We provide a detailed analysis of allelic variance at and surrounding the target site.

258 Allelic variances have been thought to be the sole cause

259 An allelic variant of protein tyrosine phosphatase nonrecep

260 ture and function of plants) associated with allelic variants and environments remains a major techni

261 lates is discussed to reinforce the need for allelic variants and the need to search for new/alternat

262 Since many allelic variants are rare, aggregation across multiple i

263 is study were to assess: i) the frequency of allelic variants at two PER3 polymorphic sites (rs578759

264 strong genetic and functional epistasis with allelic variants in IL7R exon 6.

265 he human genome, with thousands of different allelic variants known within the population.

266 In this study, we examined allelic variants of the MC4R in cetaceans.

267 Allelic variants of the pan-haematopoietic cell marker C

268 bining recently, leading to a shared pool of allelic variants potentially contributing to their incre

269 from the landraces and containing ancestral allelic variants that are absent from extant maize popul

270 SNP positions containing multiple allelic variants were used to identify three clinical sa

271 lt to define as G6PD deficiency has multiple allelic variants with different effects in males and fem

272 , but instead vary in many ways depending on allelic variants, unlinked genes, epigenetic factors, an

273 g that conserved epitopes are shared between allelic variants.

274 ment of plant fitness resulting from natural allelic variation at a single locus affecting WUE.

275 he hybridization event generated exceptional allelic variation at an opsin gene known to be involved

276 linear regression models taking into account allelic variation at FR-H1/VRN-H1 explained 0.434 and 0.

277 tive Arabidopsis (Arabidopsis thaliana), and allelic variation at many loci contribute to this trait.

278 Allelic variation at rs7178051 that associates with redu

279 Arabidopsis thaliana accessions, we identify allelic variation at the FRO2 locus associated with root

280 e suggest that resistance might be caused by allelic variation at the level of both gene expression a

281 The reported effects of allelic variation at this SNP on alcohol-related behavio

282 rate how features of KIR and HLA modified by allelic variation calibrate NK cell reactive potential.

283 ay and further allow us to conceptualize how allelic variation can shape an individual's MHC restrict

284 The genes with cis-allelic variation for response to cold or heat stress pr

285 60% loss of CHD protection conferred by this allelic variation in people who smoked tobacco (interact

286 e evaluated by characterizing CRISPR-induced allelic variation in the conserved kinase domain of MPK6

287 vely, these data suggest that in addition to allelic variation of coding sequence, the heterogenous n

288 idence for the functional consequences of an allelic variation of SNAP25 on modulating the developmen

289 ence for the functional consequences of this allelic variation of SNAP25 on modulating the developmen

290 Allelic variation of the tomato homolog of the Arabidops

291 servation points to the fluid nature of some allelic variation over this time period and the action o

292 solution gene mapping and discovery of novel allelic variation using wild barley germplasm.

293 known links between TIEG1 expression levels/allelic variations and patients with osteoporosis.

294 of genes whose altered expression levels or allelic variations are associated with decreased bone ma

295 rotective genes based on naturally occurring allelic variations has the potential to inform the devel

296 Five rice cultivars screened for allelic variations in OsARF genes showed the presence of

297 ith either full-length P. vivax VK210 or the allelic VK247 csp that additionally express GFP-Lucifera

298 encing of this candidate gene in independent allelic vrs3 mutants revealed a series of mutations in c

299 Variant calling in two allelic vrs3 mutants revealed that VRS3 encodes a putati

300 ve hESCs and embryonic cells related to mono-allelic XIST expression and non-random X inactivation hi