ライフサイエンスコーパス: sequence variation

1 unlikely to be influenced by neighboring DNA sequence variation.

2 g diversity of structural rearrangements and sequence variation.

3 lize alternative folds over a broad range of sequence variation.

4 tation is only one of several forces shaping sequence variation.

5 atterns despite significant sample-to-sample sequence variation.

6 of N-linked glycan and tolerance for epitope-sequence variation.

7 cture can predict site-specific evolutionary sequence variation.

8 ethods not yet tuned for naturally occurring sequence variation.

9 dominant FLC haplotypes defined by noncoding sequence variation.

10 h numerous structural properties can predict sequence variation.

11 t of the host effects are reflected in viral sequence variation.

12 to detect uncommon or rare protein-altering sequence variation.

13 r in the patients with or without ABCB4 gene sequence variation.

14 ith the increased frequency of the CFH Y402H sequence variation.

15 orrelated with epigenetic variation than DNA sequence variation.

16 st, rapid and cost-efficient way to discover sequence variation.

17 d for genome-scale analysis of core-promoter sequence variation.

18 mblies reveal large parts of the small-scale sequence variation.

19 le de novo characterization of core promoter sequence variation.

20 based on mechanisms dependent on subtle gene sequence variation.

21 ughput bioinformatics tools for detection of sequence variation.

22 ic SNPs among regulatory elements and coding sequence variations.

23 and miR-140-3p showed the highest number of sequence variations.

24 th patients and controls to identify unknown sequence variations.

25 oung adults, associated with ABCB4/MDR3 gene sequence variations.

26 g differences occur in the absence of nearby sequence variations.

27 ly small in size but represents all possible sequence variations.

28 number variations, structural variations and sequence variations.

29 , novel transcriptional isoforms and genomic sequence variations.

30 ategy for analysis of both known and unknown sequence variations.

31 onsensus sequence, allowing CTCF to adapt to sequence variations.

32 quence, implying an adaptability of PRDM9 to sequence variations.

33 ic variation regardless of the extent of DNA sequence variation?

34 37.1%; OR, 3.09; P<0.001) and the CFH Y402H sequence variation (41.9% vs 36.2%; OR, 1.27; P = 0.014)

35 Unexpectedly, SUP4oc tolerates numerous sequence variations, accommodates slippage in tertiary a

36 nts associated with blood pressure (BP), but sequence variation accounts for a small fraction of the

37 In 2011, the initial analysis of sequence variation across 17 strains found 56.7 M unique

38 Examining sequence variation across phenotypic pools from the cros

39 becoming routine to obtain data sets on DNA sequence variation across several thousands of chromosom

40 of JSC1 PEL cells showed a minimal level of sequence variation across the entire viral genome compar

41 ish a detailed map of allelic and paralogous sequence variation across the FCGR2/FCGR3 locus.

42 This analysis elucidates how genome sequence variation affects disease predisposition via ge

43 ecognition spectra through LRR expansion and sequence variation, allowing them to detect multiple sur

44 ntromeric assemblies to assess the extent of sequence variation among 366 individuals from distinct h

45 atterns, pathogen responses, and the role of sequence variation among closely related miRNA family me

46 ed at the molecular level, and the degree of sequence variation among copies of balancer chromosomes

47 In this study, we dissect how sequence variation among LRH-1 orthologs affects phospho

48 Together, these data show how sequence variation among Pcdh isoforms encodes their div

49 benefit by taking into account not only DNA sequence variation among plant lines, but also the infor

50 ave moved toward increased representation of sequence variation and allelic differences within S. cer

51 The expression, sequence variation and apparent diversifying selection i

52 at many CpGs across the human genome by DNA sequence variation and by lifetime environmental exposur

53 results provide the first global view of EBV sequence variation and demonstrate an effective method f

54 s to investigate relationships between viral sequence variation and EBV-associated diseases.

55 difference in NCCR promoter activity despite sequence variation and emphasized the importance of func

56 as ELISA or FACS that are susceptible to the sequence variation and expression level of the protein.

57 strategy for analyzing relationships between sequence variation and function.

58 Thus, relationships between EBV genome sequence variation and health, disease, geography, and e

59 methods are highly sensitive to artifactual sequence variation and inadequate to properly recover bi

60 Whole genome sequence variation and morphological trends within this

61 ations between host DNA polymorphisms, HIV-1 sequence variation and plasma viral load (VL), while con

62 are conserved in PEDV-3CL(pro); however, the sequence variation and positional difference in the loop

63 suggest an association between the observed sequence variation and risk of MCD and KICS.

64 conducted a comprehensive analysis of viral sequence variation and T-cell receptor (TCR) repertoire

65 Moreover, the relative impacts of DNA sequence variation and temporal changes in lifestyle and

66 ted genes showed that many contain extensive sequence variation and that patterns of single- and mult

67 tiple PLN isoforms, one of which contains 18 sequence variations and a unique luminal extension.

68 focused on genes exceptionally intolerant to sequence variations and found substantial interconnectio

69 Based on sequence variations and gene-expression analysis, the ca

70 evolving, function is undoubtedly driven by sequence variations and post-translational modifications

71 that are devoid of nonpolymorphic paralogous sequence variations and that define the limits of the ge

72 ess in describing whole-genome, species-wide sequence variation; and then discuss what insights have

73 fic sequence variations so that asymptomatic sequence variations are not misidentified as mutations i

74 epigenetic modifications, in contrast to DNA sequence variation, are more likely to be reversible.

75 normal at study entry had a similar rate of sequence variations as the healthy controls (14%).

76 ranscripts and increasingly in recent years, sequence variations, as well as map positions for multip

77 lymorphisms (nsSNPs) are the most common DNA sequence variation associated with disease in humans.

78 t' position in the peptide with tolerance of sequence variation at ancillary positions.

79 Sequence variation at each gene predicts allorecognition

80 As genetic studies probe sequence variation at greater depth in more diverse popu

81 Sequence variation at neutralizing epitopes does not ful

82 volutionarily distant sequences reveals that sequence variation at sector positions can distinguish h

83 ing enzyme that is relatively insensitive to sequence variation at the first three positions.

84 We show that non-coding sequence variation at the FRO2 locus leads to variation

85 gest that cargo affinity for importin-alpha, sequence variation at the importin-alpha NLS-binding sit

86 mutations in LRRK2 causing inherited PD and sequence variation at the LRRK2 locus associated with in

87 structural and dynamic changes coupled with sequence variation at the putative PDZ binding site dict

88 Overall, sequence variation at the variant level does not appear

89 HLA genotyping software analysis to analyze sequence variation at these three HLA-DRB loci.

90 It is a complete summary of sequence variation at unlinked sites and more generally,

91 Genetic sequence variations at 101 loci were associated with the

92 Sequence analysis revealed that MG192 sequence variation began at 5 weeks p.i.

93 Comparison of the sequence variation between isolates from Malawi and thos

94 hermore, we address considerations regarding sequence variation between strains during probe design.

95 in-silico physical mapping of DE genes with sequence variations between fl and WT identified one and

96 divergence within group III occurred through sequence variation both at the ligand-binding pocket and

97 Deep sequencing revealed interpatient gp350 sequence variation but conservation of the CR2-binding s

98 harbour a considerable fraction of total DNA sequence variation, but the functional contribution of t

99 d evidence that DMRs can occur without local sequence variation, but they are less common than in reg

100 s, 10 unrelated patients shared 1 of 3 ABCA4 sequence variations: c.3602T>G (p.L1201R); c.3899G>A (p.

101 Mitochondrial DNA (mtDNA) sequence variation can influence the penetrance of compl

102 High sequence variation causes BabA functional diversity, but

103 ct, we identify a rich seam of ribosomal DNA sequence variation, characterising 1,068 and 970 polymor

104 ed few off-target effects and a low level of sequence variation, comparable to that accumulated in ro

105 ite preferences for 23 homologs with natural sequence variation compared to CjPglB.

106 Such subtle sequence variations contribute to differential stability

107 facial development and suggest that enhancer sequence variation contributes to the diversity of human

108 MG192 nucleotide sequence variation correlated with estimated recombinati

109 However, the simultaneous display of sequence variation, coverage depth and quality scores ac

110 missing pieces using the patterns of genome sequence variation created by population admixture.

111 ng visualization and analyses of exome-scale sequence variation data, this program will help bring th

112 y and quickly sort, filter, and sift through sequence variation data.

113 phenotype-driven analysis of next-generation sequence-variation data, and translational research, but

114 s musculus Receptor usage and envelope (env) sequence variation define three MLV host range subgroups

115 possible to quantify subtle effects such as sequence variation, demethylation, and de novo methylati

116 and representation of reference genomes and sequence variations derived from population studies and

117 ll pedigrees sustain limited copy number and sequence variation despite extensive serial passaging an

118 This assay accommodates sequence variations detected within target sequences, th

119 s study, we determined the kinetics of MG192 sequence variation during the course of experimental inf

120 the double mutant, implying that functional sequence variation elsewhere in the protein is necessary

121 use of differences in common or rare genomic sequence variation, environmental factors or their inter

122 ding blood lipids has largely focused on DNA sequence variation; few studies have explored epigenetic

123 t this hypothesis, we injected plasmids with sequence variations flanking an I-SceI endonuclease reco

124 S) can comprehensively capture low-frequency sequence variation for the cost of a dense genome-wide g

125 ologies have increased the ability to detect sequence variations for complex trait improvement.

126 populations, we had to carefully distinguish sequence variation from errors due to experimental proto

127 y, we examined these hypotheses by employing sequence variation from multiple nuclear and chloroplast

128 Using full-genome sequence variation from the 1000 Genomes (1000G) Project

129 Using full-genome sequence variation from the 1000 Genomes Project, we fir

130 identical latent membrane protein 1 (LMP-1) sequence variations from the reference EBV strain, makin

131 r positive selection among some opsins, with sequence variation greatest for opsins producing the sho

132 The study of DNA sequence variation has been transformed by recent advanc

133 uccess in identifying disease-associated DNA sequence variation has followed from new genomic technol

134 ing the functional relationships between DNA sequence variation, human biology, and disease.

135 a system to encompass the full complexity of sequence variations (i.e., isomiRs) in the analysis of s

136 A sequence variation (I148M) in patatin-like phospholipase

137 Twelve sequence variations identified by exome sequencing were

138 Three ABCA4 sequence variations identified exclusively in African Am

139 In addition, sequence variations identified from FFPE RNA show 99.67%

140 ely via the VWF A1 domain, and that specific sequence variations identified through VWF patient sampl

141 e advancing our understanding of how protein sequence variation impacts molecular protein function.

142 Second, to analyze the effect of minor sequence variation in a clinical setting, we screened tu

143 nt study, we characterized Tp0750 and Tp0751 sequence variation in a diversity of pathogenic and nonp

144 We investigated maintenance of sequence variation in adult Bengalese finch song, a lear

145 MD-MX associations as they may relate to DNA sequence variation in AMD- and lipoprotein-related genes

146 These results suggest that alongside sequence variation in coding immunological genes, variat

147 To examine the role of recurrent coding sequence variation in CRC aetiology, we genotyped 12,638

148 onclusion, we reported a genome-wide view of sequence variation in EBV isolated from primary NPC biop

149 However, sequence variation in ECL2 of these claudins is likely r

150 a variety of factors in shaping patterns of sequence variation in full-length genomes from 13 Monone

151 ID), the enzyme responsible for induction of sequence variation in immunoglobulins (Igs) during the p

152 urotropic JCPyV, little is known about viral sequence variation in JCPyVAN owing to the rarity of thi

153 In summary, we found a high degree of sequence variation in LCR22A and LCR22D and a potential

154 0 eukaryotic RR sequences to examine natural sequence variation in loop 2.

155 th other studies that have found no role for sequence variation in Mc1r and highlight the importance

156 that variation in microRNA expression and/or sequence variation in microRNA binding sites in target g

157 Therefore we contrast sequence variation in miRNAs and their targets within A.

158 ng by inspecting the genomic partitioning of sequence variation in modern elite germplasm, highlighti

159 We hypothesized that geographically-biased sequence variation in mpb70 and mpb83, or in the genes t

160 Thus, sequence variation in mpb70, mpb83, sigK, and rskA does

161 Despite similar degrees of sequence variation in naturally occurring IN and CA sequ

162 e aims of this study were to determine MG192 sequence variation in patients with chronic M. genitaliu

163 We postulated that DNA sequence variation in PPAR gamma (PPARG) co-activator 1

164 story and size alters patterns and levels of sequence variation in primates.

165 l type-specific regulatory programs and that sequence variation in stretch enhancers affects risk of

166 Here we describe the detailed sequence variation in the complete IGS of A. thaliana WT

167 ed interactions between childhood trauma and sequence variation in the CRH receptor 1 gene (CRHR1) th

168 Despite substantial overall sequence variation in the CTT, specific arginines are hi

169 Despite the importance of NPR3, sequence variation in the gene has not been addressed us

170 lymorphisms (SNPs) are the most abundant DNA sequence variation in the genomes which can be used to a

171 Also, sequence variation in the HA gene was greater at the beg

172 allenges of jointly analysing structural and sequence variation in the human genome.

173 Subtle sequence variation in the modular synthetic ligand dicta

174 their interaction strength by exploiting the sequence variation in the nine neuraminidase subtypes (N

175 DNA sequence variation in the NRAT1 coding and regulatory re

176 es followed, to determine a loss of function sequence variation in the phospholipase A2-activating pr

177 Furthermore, sequence variation in the placental miRNA profiles could

178 uencing showed a novel frameshift homozygous sequence variation in the SACS gene, consistent with the

179 is in the report of a single case of a novel sequence variation in the SACS gene.

180 lls) appears to have had a greater impact on sequence variation in the TDH3 promoter than selection o

181 Finally, we used sequence variation in the transcriptome data to determin

182 We have recently reported a sequence variation in the von Willebrand factor (VWF) A1

183 ent human infections prompted us to evaluate sequence variation in this animal model.

184 Sequence variation in this gene within a single species

185 prevalence and evolutionary significance of sequence variation in this ubiquitous genomic region are

186 Significant sequence variation in TLR5 exists between animal species

187 Sequence variation in tRNA genes influences the structur

188 ic experiments covering 69% of the available sequence variation in two distinct sites, we show that v

189 resistance to orthosomycins and revealed the sequence variations in 23S rRNA nucleotides alongside th

190 a series of predefined workflows to pinpoint sequence variations in animal genomes, such as those of

191 Large sequence variations in CCP domains explain the diverse C

192 roach for the analysis and interpretation of sequence variations in complex diseases in the post-geno

193 tistical evidence for effects of NS1 protein sequence variations in dictating influenza virus host ra

194 K111 proviruses show significant sequence variations in each individual centromere, which

195 this, human genomic studies are identifying sequence variations in patients, resulting in numerous c

196 ificity, and interprets the action of coding sequence variations in proteins, people and populations.

197 is information can be used to determine when sequence variations in seasonal influenza virus strains

198 We previously described stereotypic env sequence variations in SIVmac251-infected rhesus monkeys

199 Monitoring copy number and sequence variations in the CFHR gene cluster in C3G-DDD

200 ion of each gene, as well as a comparison of sequence variations in the context of defined regions.

201 Sequence variations in the myocilin (MYOC) gene account

202 GI NoVs, similar to GII, exhibit significant sequence variations in the P domain; it is unclear how t

203 we know little about the structural basis of sequence variations in the prion protein that support or

204 Sequence variations in the RE elicit a p73 conformationa

205 itivity to the toxin is conferred by natural sequence variations in the S1-S2 loop of domain II.

206 d beta barrel, an elegant structure allowing sequence variations in the strand-connecting loops while

207 details on how the active site accommodates sequence variations in the substrates.

208 AC blockade and what effects might be due to sequence variations in these tail peptides or to tubulin

209 Sequence variations in this region that result in differ

210 m to reveal the functional impact of natural sequence variations in trans recognition.

211 n 4 was associated with select VWF A1 domain sequence variations in type 1 and type 2M VWD.

212 To understand the sequence variations in zfPLN, chimeras were created by t

213 increasingly used for the quantification of sequence variations, including single nucleotide polymor

214 Analysis of gene expression and DNA sequence variation indicates that isoform expression dif

215 rks enriched for genes intolerant to protein sequence variation, informing novel polygenic contributi

216 Viral immune evasion by sequence variation is a major hindrance to HIV-1 vaccine

217 Accurate interpretation of DNA sequence variation is a prerequisite for implementing pe

218 ethylation differences are maximized and DNA sequence variation is minimized.

219 Comprehensive enumeration of sequence variation is necessary to identify functional a

220 ults suggest that the presence of the D1472H sequence variation is not associated with a significant

221 Understanding how DNA sequence variation is translated into variation for comp

222 atforms, miRNA mapping associated with miRNA sequence variation (isomiR) and RNA editing, and the ori

223 raordinarily varied sequence of actions, and sequence variation leading to successful and unsuccessfu

224 d the outcome of infection, the influence of sequence variation leading to the inactivation or deleti

225 l topology, high stability, and tolerance to sequence variation make them promising templates for the

226 One mechanism by which sequence variation may reduce propensity to form amyloid

227 stand the molecular mechanisms by which this sequence variation modifies platelet function, we produc

228 The sequence variations observed at drug-resistance loci ref

229 In addition, we provided evidence that MG192 sequence variation occurred during the process of M. gen

230 The majority of sequence variation occurred in the HA gene, and some mut

231 Here we report the sequence variation of 16 different isolates of parainflu

232 The distinct structure and sequence variation of clade B gp120 differentially impac

233 Sequence variation of the glycoprotein (G) gene alone wa

234 ates from the United States and describe the sequence variation of the lukSF-PV genes.

235 and how this may be altered by mutation and sequence variation of the receptors.

236 Sequence variation of the two strands at their cleavage

237 9 gene in all species of equids by analyzing sequence variation of the ZF domains and estimating posi

238 Currently, the database documents sequence variations of a total of 1251 alleles of all 40

239 However, it has not been elucidated which sequence variations of the canonical CHR are functional

240 sive-disease potentials revealed intraclonal sequence variations of the virulence-associated proteins

241 We demonstrate that M-Probes can tolerate sequence variations of up to 7 nt at prescribed position

242 nt inability to predict the effect of genome sequence variation on DNA methylation precludes a compre

243 screen to assess the genome-wide effects of sequence variation on lineage-determining and signal-spe

244 To further investigate the influence of sequence variation on N-glycosylation efficiency in the

245 demonstration of the strong effect of minor sequence variation on pMHC-based personalized immunomoni

246 d uses this network to predict the impact of sequence variation on proximal CpG site DNA methylation.

247 lines (LCLs) and analyzed the effect of DNA sequence variation on RNA half-life differences.

248 nature of most RNA structures or effects of sequence variation on structure are not known.

249 interactions and the impact of heterozygous sequence variation on the expression of neighboring gene

250 enables systematic analysis of the impact of sequence variation on transcription factor occupancy in

251 To comprehensively define the effects of sequence variation on tRNA function, we developed a high

252 Mapping of sequence variations on a CPB structure modeled using rel

253 Position-specific sequence variations optimize the efficiency of FH1-stimu

254 , basecaller software frequently missed gene sequence variations or could not identify variant bases

255 e selection and undergo patterned changes in sequence variation over time, the relationships between

256 al Gag protein exhibits extensive amino acid sequence variation overall; however, one region of Gag,

257 The sequence variation p.[P33S(;)P168S] is the most prevalen

258 show for the first time that unresolved rDNA sequence variation resulting from imperfect concerted ev

259 althy controls to understand ethnic-specific sequence variations so that asymptomatic sequence variat

260 However, the wide sequence variation, sources and modalities of group memb

261 mographic history imparts on patterns of DNA sequence variation, statistical methods that have been d

262 are rule-based and focus on limited types of sequence variations, such as protein point mutations.

263 In addition, infants expressing the sequence variation tended to have significantly lower BW

264 patients, RRE activity was more sensitive to sequence variation than Rev activity and acted as the pr

265 strain of protein-coding genes that acquired sequence variations that cause premature STOP codons, lo

266 Our comparisons of IEE sequences showed sequence variations that could be divided into at least

267 , yet it has been difficult to identify gene sequence variations that underlie this heritability.

268 rom patients with persistent reinfection had sequence variations that were not recognized by the pre-

269 Two sequence variations that were significantly (P < 0.0001)

270 ment of the ITS amplicons showed very little sequence variation, there was preliminary single nucleot

271 on may lie on the regulatory pathway linking sequence variation to blood pressure.

272 ensively explores the contribution of coding sequence variation to CRC risk, identifying associations

273 n have emerged as a key tool for linking DNA sequence variation to phenotypes.

274 in our knowledge of the contribution of DNA sequence variations to cardiovascular disease and stroke

275 ser to specify a reference panel of expected sequence variations to improve the model accuracy.

276 such as heteroplasmy (i.e. intra-individual sequence variation) to a higher level of detail.

277 Naturally occurring JCV sequence variation, together with drug treatment-induced

278 rm outcomes, in the present study, PSMB gene sequence variation was characterized in tumor DNA sample

279 In contrast, sequence variation was evident amongst virus tested from

280 erization of local centromeric tandem repeat sequence variation we have designed Alpha-CENTAURI (ALPH

281 lationships of Hsp21 and understanding these sequence variations, we developed a structural model of

282 In contrast, in patients displaying sequence variations, we were able to induce HCV-specific

283 Higher levels of sequence variations were also observed for genes involve

284 Three ABCA4 sequence variations were identified exclusively in 10 un

285 VWF sequence variations were most frequent in subjects with

286 Exome-sequenced variations were validated by additional Sanger

287 agent of typhoid fever, exhibits limited DNA sequence variation, which complicates efforts to rationa

288 r genome evolution, often resulting in large sequence variations with implications for disease progre

289 le genome, that is, population-level natural sequence variation within a species that is not present

290 enomes Consortium, we characterize rRNA gene sequence variation within and among accessions.

291 Sequence variation within enhancers plays a major role i

292 reference databases for studying patterns of sequence variation within human populations.

293 DNA (rDNA) internal transcribed spacer (ITS) sequence variation within the Chrysanthemum indicum comp

294 nal tolerance and a strong correspondence to sequence variation within the enzyme family, but also re

295 We demonstrate that sequence variation within the mitochondrial DNA (mtDNA)

296 There is considerable sequence variation within the TZF domains from different

297 These data directly link sequence variation within the XDP-specific SVA sequence

298 ting viral escape from KIR+ NK cells through sequence variations within HLA class I-presented epitope

299 I function in vivo and capitalize on natural sequence variations within it to facilitate structural a

300 ifferences in its activity are determined by sequence variations within the C-terminal B30.2/PRYSPRY