ライフサイエンスコーパス: loci

1 ples, we identified an additional nine novel loci.

2 ion studies identified numerous disease risk loci.

3 genes based on expression quantitative trait loci.

4 tion affects off-target candidates for these loci.

5 ns of evolutionary histories of even distant loci.

6 ent with allelic exclusion of Vbeta-encoding loci.

7 nor and the acceptor are at distinct genetic loci.

8 cial for transcription regulation at certain loci.

9 a list of targeted eGenes for 21 of 58 GWAS loci.

10 n variation within the classical HLA class I loci.

11 CRs), and is enriched in introns and lincRNA loci.

12 creased mutation rates at highly transcribed loci.

13 sitions in the human genome including remote loci.

14 P < 5 x 10(-8) with ten variants at nine new loci.

15 t significant genome-wide associations at 14 loci.

16 e immunoglobulin traits, accounted for by 32 loci.

17 associations to 128 distinct signals at 113 loci.

18 diagnoses that involved two or more disease loci.

19 ed limited success in identifying associated loci.

20 ariants outside of previously known T2D risk loci.

21 andMe cohort recapitulated each of these six loci.

22 dentification of 8091 previously unannotated loci.

23 dies have had limited power to identify risk loci.

24 e remained unclear for the majority of these loci.

25 onality of the Eqca-DRB, -DQA, -DQB and -DOB loci.

26 transcription elongation at targeted genomic loci.

27 so influence gene expression levels at these loci.

28 e using microsatellite and mitochondrial DNA loci.

29 g plasma FXI levels in both the F11 and KNG1 loci.

30 oci, as well as joint analyses on all 82 SLE loci.

31 s that mapped to 13 previously identified QT loci.

32 suppressed transcription at distinct genomic loci.

33 , rather than modeling effects of individual loci.

34 0 gRNAs across 30 therapeutically implicated loci.

35 ere located within mapped quantitative trait loci.

36 H3K9 acetylation levels at the corresponding loci.

37 e caused by epigenetic silencing of specific loci.

38 for H3K9me2 demethylation at cell cycle gene loci.

39 ologic inhibition or genome editing of these loci.

40 urons identified two genome-wide significant loci (10q26 and 12p13.31) and resulted in a gene set tha

41 Two known nicotine dependent loci (15q25.1 and 19q13.2) were associated with smoking

42 We identified 25 new susceptibility loci, 3 of which contain integrin genes that encode prot

43 Among the common loci, 48% had the same direction of effect for allergy a

44 Among 80 previously known index SNPs at T2D loci, 66 SNPs showed consistency with the reported direc

45 Maximal heterozygosity at HLA-I loci ("A," "B," and "C") improved overall survival after

46 can lineage, and known resistance-conferring loci accounted for the majority of phenotypic resistance

47 condensin in the suppression of hundreds of loci, acting in both DNA methylation-dependent and methy

48 Finally, of the 42 suggestively associated loci, AJAP1 was suggestively associated with QT in a pri

49 Our results yield five novel loci (all with Pcombined<3 x 10(-8)): 1q42.2 (rs12129938

50 mains" form because of tethering between two loci-almost always bound by CTCF and cohesin-lying on th

51 Cumulatively, these loci also predicted X chromosome loss in women (n = 96,1

52 integration into pipelines of paired-genomic-loci analyses.

53 The expression quantitative trait loci analysis revealed that ERCC1 rs3212924 and XPC rs22

54 identified eight previously reported AD risk loci and 14 novel loci associated with age at onset.

55 We report 58 significant main effect loci and 24 significant epistatic interactions associate

56 ic activity of RNA polymerase across various loci and following experimental perturbation.

57 ons between variation at the WNT16 and RSPO3 loci and fracture risk (P = 0.004 and 4.0 x 10-4, respec

58 eridol-regulated genes in schizophrenia GWAS loci and in schizophrenia-associated biological pathways

59 ught to investigate commonalities in genetic loci and pathways between allergy and autoimmune disease

60 ing recombination fractions between dominant loci and recovering true linkage maps of 6 dominant loci

61 ctional interpretation of disease-associated loci and show the advantage of utilizing naive T cells f

62 vided evidence for interaction between these loci and target genes.

63 The primary outcome was a list of novel loci and their pathways involved in PD and autoimmune di

64 the linkage disequilibrium of 115 associated loci and these links reflect phenotypic correlations.

65 ten unclear which genes are affected in such loci and whether the associated genetic variants lead to

66 We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smokin

67 n Chile were genotyped for 13 microsatellite loci, and allocated, through probabilistic mixture model

68 he presence of expression quantitative trait loci, and by allele-specific enhancer loops in patient-d

69 omparative genomics data indicate that these loci, and genomic islands in general, have exceptionally

70 methods.We discovered five novel heart rate loci, and one new independent low-frequency non-synonymo

71 sed on 37 037 single-nucleotide polymorphism loci, and population density as an axis of environmental

72 Most candidate loci appear to regulate nearby genes.

73 t of genomic island regions, including these loci, appears to represent anciently diverged haplotypes

74 he disease is unknown, suggesting that other loci are most likely involved.

75 rotype 42 was unclear, as their reported cps loci are nearly identical.

76 rker-based location of Iw2 We propose the Iw loci arose from an inverted duplication of W1-COE and/or

77 rformed a battery of analyses for these five loci, as well as joint analyses on all 82 SLE loci.

78 the combined meta-analysis, we identified 22 loci associated at genome-wide significance, including 1

79 ous reports have implicated multiple genetic loci associated with AF, but the contributions of genome

80 reviously reported AD risk loci and 14 novel loci associated with age at onset.

81 overy rate (cFDR) approach to discover novel loci associated with BMI and T2D by incorporating the su

82 We investigated whether previously reported loci associated with BP in studies of European, African,

83 We report 4 novel loci associated with BP regulation, and 1 independent va

84 n the gender-combined dataset revealed eight loci associated with BUA and seven with VOS after correc

85 l datasets, we validated recently identified loci associated with CAD.

86 ing FarmCPU R package to identify 17 genetic loci associated with cold tolerance.

87 Our findings highlight new loci associated with COPD, demonstrate the importance of

88 ed 15 new loci, bringing the total number of loci associated with coronary artery disease to 95 at th

89 ide association study identified new genomic loci associated with differential emphysematous destruct

90 We identified five loci associated with emphysema distribution at genome-wi

91 ociation studies (GWAS) have identified >175 loci associated with fasting cholesterol levels, includi

92 COPD, demonstrate the importance of specific loci associated with lung function to COPD, and identify

93 In stage 1, we identified eight loci associated with plasma sodium concentration at P<5.

94 sing highly selective BiDz sensors targeting loci associated with species typing and resistance to ri

95 ic heterogeneity (that is, different sets of loci associated with the trait) between the northern and

96 Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses

97 te the association of 8 reported significant loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with urolith

98 gnificant cis-methylation quantitative trait loci at 64% of the 193 CpGs with an enrichment of signal

99 ional three Bonferroni-corrected significant loci at chromosomes 17q21.31, 17p13.1 and 1p13.3.

100 This approach identified 13 new loci at genome-wide significance, 12 of which were on ou

101 relocation of the keratinocyte-specific gene loci away from the sites of active transcription toward

102 for the genome-wide mapping of 5hmU-modified loci based on a chemical tagging strategy for the hydrox

103 not complete, overlap of readthrough-induced loci between different conditions.

104 ing is altered, which is mirrored in genomic loci bound by Sox2/Oct4 complexes.

105 We identified 15 new loci, bringing the total number of loci associated with

106 ation studies have identified at least 30 AF loci, but the mechanisms through which individual varian

107 the CRISPR-Cas9 system, then barcodes those loci by DNA sequential fluorescence in situ hybridizatio

108 lly interpret complex-disease susceptibility loci by GWAS and eQTL integration have predominantly emp

109 anscriptional activation complexes to target loci by modified single guide RNAs.

110 ms responsible for RdDM are guided to target loci by small RNAs (sRNAs) that can move within plants c

111 Under segregation lift, loci can exhibit conspicuous seasonal allele-frequency f

112 evolutionary history, and thus the choice of loci can have a major impact on phylogenetic reconstruct

113 mosome 9p24.1 and the associated PD-1 ligand loci, CD274/PD-L1 and PDCD1LG2/PD-L2, and copy number-de

114 c markers, our study identified four outlier loci clearly associated with resistance.

115 iomass traits were found to share regulatory loci, cluster in network neighborhoods, and exhibit enri

116 Nearly half of all GWAS CRC risk loci co-localize to recurrently activated enhancers.

117 Interestingly, two of these loci colocalize with the B. distachyon homologs of the m

118 s, we identified over a thousand of human L1 loci containing at least one stop codon in their ORF1 se

119 sis thaliana), and allelic variation at many loci contribute to this trait.

120 thus may enable improved detection of novel loci contributing to diseases and quantitative traits.

121 Numerous human polyTE loci correspond to both cis and trans eQTL, and their re

122 Twenty-seven (46%) of these loci could be replicated in independent cohorts, underli

123 r results with expression quantitative trait loci data, we provide evidence that variation at these r

124 e tool suite for manipulating paired-genomic-loci data.

125 Markers at outlier loci delineated a geographic region associated with resi

126 encoding the DiCre recombinase into genomic loci dispensable for blood stage development.

127 n activation at specific TEs and TE-adjacent loci during PIWI knockdown is suppressed when PIWI and P

128 isomiRs and tRFs arising from specific miRNA loci (e.g., miR-200c, miR-21, the miR-17/92 cluster, the

129 R-183/96/182 cluster) and from specific tRNA loci (e.g., the nuclear tRNA(Gly) and tRNA(Leu), the mit

130 Most of these loci encoded long noncoding RNAs.

131 e small RNAs originate from discrete genomic loci enriched in TE sequences and display the molecular

132 tation such as expression quantitative trait loci (eQTL) or Hi-C genome conformation data and reports

133 ide mapping of expression quantitative trait loci (eQTLs) and allele-specific expression (ASE).

134 n in ESCs; instead, only a subset of genomic loci exhibited reduction in H3K4me3 in Set1A(DeltaSET) c

135 The identified loci explain approximately 28% of the genetic heritabili

136 is highly heritable, but known pigmentation loci explain only a small fraction of the variance.

137 All associated loci explained 2.9%, 2.5%, and 3.1% of variation in syst

138 elated fluctuations in the positions of gene loci, find large genomic compartments and smaller topolo

139 uction of double-strand breaks at endogenous loci followed by the identification of breakpoint juncti

140 l cortex and activation of distinct cortical loci following ipsilateral and contralateral stimulation

141 the mitochondrial and nuclear microsatellite loci for 148 individuals, we identified three population

142 The 4 new risk loci for AAA seem to be specific for AAA compared with o

143 ts nearly double the number of known genetic loci for atrial fibrillation, provide insights into the

144 characterization of genome-wide significant loci for cannabis dependence is among the first steps to

145 to date have not identified any robust risk loci for diabetic retinopathy (DR).

146 s have identified 19 independent common risk loci for endometriosis.

147 We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF

148 the D subgenome, and identified 19 candidate loci for fiber-quality-related traits through a genome-w

149 ants may be causative for quantitative trait loci for germination and resistance to infection by the

150 o the hypothesis that genetic susceptibility loci for hypertension may serve as predictors for develo

151 Fifty-two quantitative trait loci for individual and total tocochromanols were identi

152 7 and rs2847282 may be potential susceptible loci for lung cancer risk.

153 1, B3GAT2, and RIMS1 as novel susceptibility loci for pediatric VTE and warrant future functional stu

154 tion studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC).

155 .05, 287 loci were identified for BMI and 75 loci for T2D, 23 of which for both traits.

156 inantly autogamous plant to outcross and fix loci from different populations, even from distant speci

157 the existence of pathways excluding specific loci from dosage compensation mechanisms.

158 been developed to infer ChIP-target binding loci from the resultant reads after mapping them to a re

159 cting alignments and phylogenies for a given loci from thousands of available genomes.

160 lective sweeps underlying quantitative trait loci/genes of important fruit quality traits including f

161 TR) retrotransposons and organize into large loci (>50 kbp) characterized by high LTR density.

162 rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR,

163 Ten novel loci have been found to be associated with systemic lupu

164 er for which multiple genetic susceptibility loci have been identified, but few resolved to specific

165 nal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metaboli

166 These loci highlight novel biological functions, including res

167 Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) ar

168 ALIZATION1/PHYTOCHROME C and VERNALIZATION2, loci identified as flowering regulators in the domestica

169 Genetic loci identified by conditional false discovery rate anal

170 providing strong support that the remaining loci identified by FDR represent genuine signals.

171 The additional genetic loci identified in this large meta-analysis of cardiac s

172 not only greatly increases the number of MPB loci, illuminating the genetic architecture, but also pr

173 Positional analysis of lincRNA loci implicated involvement in transcriptional regulatio

174 aimed to replicate five of these suggestive loci in a Han Chinese cohort from Hong Kong, followed by

175 To genetically map modifier loci in Atp6v1b1vtx/vtx mice, we analysed ABR thresholds

176 d recovering true linkage maps of 6 dominant loci in coupling and unknown linkage phases.

177 ntified 2 additional genome-wide significant loci in females.

178 PRC1 and a Br140 ortholog, BRD1, at bivalent loci in human embryonic stem (ES) cells.

179 approach first labels and tracks chromosomal loci in live cells with the CRISPR-Cas9 system, then bar

180 oncoding RNAs (lncRNAs) interact with target loci in the context of chromatin.

181 ed with a genome-wide screen for DELLA-bound loci in the inflorescence tip, revealed that DELLAs limi

182 Altered methylation of specific DNA loci in the liver of Bhmt-null mice results in repressio

183 ATAY) allows one-step mapping of all genetic loci in which transposons can insert without disrupting

184 d variants had expression quantitative trait loci in whole blood.

185 of 50 mostly polyploid accessions, for four loci, in three PacBio runs (one run per set).

186 These 11 novel loci include GATAD2B, ASCC3, DSCAML1, and HELZ, which ar

187 These loci included two previously reported associations with

188 We also identify SNPs at novel loci including GCKR, CADM2 and FAM69C.

189 show genome-wide association of 14 PBC risk loci including previously identified 6p21 (HLA-DRA and D

190 ed evidence for causal mechanisms at several loci, including at a previously undiscovered basophil co

191 anonical and non-canonical skin pigmentation loci, including near SLC24A5, TYRP1, SMARCA2/VLDLR, and

192 y all were constructed by merging homologous loci into single "consensus" sequences, generally absent

193 Loci involved in recombination rate, which is an interes

194 yo such that its average occupancy at target loci is on-rate-dependent.

195 tant, chromatin decondensation at heat shock loci is unaffected in the absence of JIL-1 as well as of

196 s in the genome-wide association studies, 21 loci jointly influencing schizophrenia and cognitive tra

197 y simulating single particle trajectories of loci located on the constructed polymers from 5C data, w

198 Future studies of these loci may aid in identifying new targets for drugs that m

199 Copy number variation of the target loci may be another explanation for read abundance diffe

200 The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15

201 ce, 12 of which were on our previous list of loci meeting the 5% FDR threshold, thus providing strong

202 No loci met the Bonferroni-adjusted level of statistical si

203 ed suggestive p < 10-5, and nine independent loci met this threshold in eight distinct chromosomal re

204 contains deletions of tumour suppressor gene loci, most notably SMAD4, which is homozygously deleted

205 methylation (methylation quantitative trait loci [mQTLs]) were identified.

206 We identified four genome-wide significant loci, none of which showed any association with disease

207 mycota)-based on sequence alignments for six loci (nr5.8S, nrLSU, nrSSU, mtSSU, RPB1, RPB2 ).

208 ducted a genetic survey at 10 microsatellite loci of 482 coyotes originating from 11 eastern U.S. sta

209 We found three new susceptible loci of leprosy, one in GAL3ST4 and two in CHGB.

210 f C. subflexa on P. angulata depends on many loci of small effect distributed throughout the genome,

211 We show that many loci of small effect underlie phenotypic variation, and

212 /Cas9-mediated deletions at 17 sites in four loci of the mouse genome.

213 e lutein during post-harvest storage and two loci on chromosomes 7D and 7H(ch) are important for este

214 eeds up both detection and discrimination at loci only a fraction of a degree apart within the foveol

215 Established AF loci only explain a moderate proportion of disease risk,

216 le and hermaphrodite flowers, identified new loci outside of annotated gene models, suggesting their

217 None of our loci overlapped with genome-wide associations for asthma

218 We identify 63 MPB-associated loci (P<5 x 10(-8), METAL) of which 23 have not been rep

219 We present the paired-genomic-loci (PGL) file standard for genomic-interactions data,

220 histochemistry map to human genetic deafness loci, potentially representing new deafness genes.

221 in three European populations to search for loci predisposing to VUR.

222 KY factors each bound to more than 1000 gene loci predominantly at W-box elements, the known WRKY bin

223 capsule biosynthetic locus, all of which are loci previously suggested to be associated with urogenit

224 These loci prove essential to accurately modeling yeast growth

225 s orchestrated by polysaccharide utilization loci (PULs).

226 Quantitative trait loci (QTL) for O3 tolerance have been identified in mode

227 cterized the "D" locus by quantitative trait loci (QTL) mapping and identified a FLAVONOID 3'5' HYDRO

228 We find that detecting quantitative trait loci (QTL) with HTP phenotyping is as accurate and effec

229 In addition, we found two quantitative trait loci (QTLs) associated with female mate choice that also

230 hod detected thousands of quantitative trait loci (QTLs) that influenced gene expression, chromatin a

231 rom gingival tissues with quantitative trait loci (QTLs) that were identified in a F2-cross of mice r

232 some mammals can use an inverted order of Ig loci rearrangement.

233 Genes near loci regulating total body mass are enriched for express

234 ns among allocation metrics were mapped, and loci related to nitrogen uptake and floral organ develop

235 V39 enzymes localize to their target genomic loci remains unclear.

236 icates asynchronously, with discrete genomic loci replicating during different stages of S phase.

237 GWAS for leaf color detects six candidate loci responsible for the variation of anthocyanins in le

238 Analysis of six chloroplast microsatellite loci revealed no variation.

239 Preliminary network analysis of these loci revealed the involvement of PARK2, a gene intensive

240 We identify 19 new TGCT risk loci, roughly doubling the number of known TGCT risk loc

241 ween schizophrenia and reaction time, and 14 loci shared between schizophrenia and general cognitive

242 izophrenia and verbal-numerical reasoning, 6 loci shared between schizophrenia and reaction time, and

243 enia and cognitive traits were identified: 2 loci shared between schizophrenia and verbal-numerical r

244 onfirmed that genes located among associated loci showed evidence of expression.

245 Eight established non-HLA risk loci showed pleiotropic associations.

246 However, a small proportion of loci showed strong patterns of differentiation and exhib

247 536 individuals and discover six independent loci significantly associated with hippocampal volume, f

248 ers using cis-methylation quantitative trait loci single nucleotide polymorphisms.

249 a subset of genes, including rRNA and CRISPR loci, Spt4/5 is recruited to the transcription elongatio

250 Multilocus genotypes from 7 microsatellite loci suggested that most populations (10 of 14) were fou

251 Remarkably, within and across independent loci, T2D risk alleles that overlap with RFX footprints

252 e association study (GWAS) to identify novel loci that alter the expression of cytolytic toxins, a po

253 methylation changes at more than half of the loci that are targeted by RNA-directed DNA methylation (

254 ified a set of expression quantitative trait loci that contribute to this variation.

255 thylation can arise as epialleles, which are loci that differ in chromatin state and are inherited ov

256 tures from over one hundred thousand genomic loci that display DNase I hypersensitivity in one or mor

257 43 women) to test for replication of genomic loci that had significant genomewide association (P<5.0x

258 novel and African ancestry-specific disease loci that have been discovered.

259 reexisting knowledge has uncovered dozens of loci that influence glycemic dysregulation.

260 ociation studies identified over 100 genetic loci that significantly associate with schizophrenia (SZ

261 t notably in identifying disease-susceptible loci that vary among different ethnic groups.

262 he ASAR6 and ASAR15 genes were identified as loci that when disrupted result in delayed replication a

263 n intronic microRNA encoded within the SREBP loci, the expression of which is decreased with rapamyci

264 ughly doubling the number of known TGCT risk loci to 44.

265 y lean body mass and find five novel genetic loci to be significantly associated.

266 ioinformatic analyses on all 82 reported SLE loci to identify shared regulatory signatures.

267 shown by phylogenetic analyses based on four loci to represent two novel Exophiala species.

268 virus-like particles in human immunoglobulin loci transgenic mice.

269 To identify genomic loci underlying LBM, we performed a gene-based genome-wi

270 identify five potential novel ALS-associated loci using conditional false discovery rate analysis.

271 To identify additional AAA risk loci using data from all available genome-wide associati

272 nges in RSA were associated with 100 genetic loci using genome-wide association studies.

273 Here the authors comparatively map virulence loci using the offspring from a P. yoelii YM and N67 gen

274 levels of H3K14/23Ac of ein2-5 at the target loci, using CRISPR/dCas9-EIN2-C.

275 We convincingly replicate all novel loci via multivariate tests.

276 This loci was commonly lost in BCa cell lines and we show the

277 ineral density (BMD) and fracture-associated loci.We conducted a study to evaluate whether fracture g

278 h global chromatin looping data, EBNA3-bound loci were found to have a singular character, each direc

279 n motifs and domains within each of the AARS loci were identified and used to build a web-based compu

280 cFDR nominal significance level of 0.05, 287 loci were identified for BMI and 75 loci for T2D, 23 of

281 Two highly significant CAD loci were identified on chromosome 17q21.2 (NPL score of

282 T-DNA and ALC loci were not linked, as indicated by random segregation

283 We found that samples for which all SNP loci were scored had no disagreements across the three r

284 Four of the identified genetic loci were significantly associated with gene expression

285 Five of the six new loci were specifically associated with atrial fibrillati

286 risk scores (GRS) composed of the candidate loci were used to distinguish patients with an early or

287 ith EIN2, and more EIN3 proteins bind to the loci where ENAP1 is enriched for a quick response.

288 Because ice-shelf channels are loci where intense melting occurs to thin an ice shelf,

289 We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interactio

290 families characterized by highly polymorphic loci with extensive nucleotide diversity, copy number va

291 Genome-wide analysis of 5-hmC-enriched loci with hmC-seal was conducted in a cohort of low-pass

292 These DMRs cover loci with known islet function, e.g., PDX1, TCF7L2, and

293 read changes in DNA methylation (187 genetic loci with P < 1 x 10(-7), range P = 9.2 x 10(-8) to 6.0

294 We identified 10 novel loci with p-value < 5 x 10(-8) previously missed by HapM

295 Genomic loci with regulatory potential can be annotated with var

296 olygenic disorder where multiple pleiotropic loci with small effects contribute to increased disease

297 equency = 0.01, P = 7.9 x 10(-9)) and 4 more loci with suggestive evidence of association ( P < 5 x 1

298 up evaluation of these disclosed 8 SNPs in 4 loci, with an interaction P < 0.05 in the large CHS stud

299 be a robust statistical approach to identify loci within genes that are both significantly enriched i

300 e, we examined the methylation status of CpG loci within the promoter regions of Th1/2 lineage commit