ライフサイエンスコーパス: loci

1 and common variants (at the PTPN2 and SOCS1 loci).

2 the mosaic of evolutionary forces acting on loci.

3 ) were selected along with 7 drug resistance loci.

4 the detection of novel expressed non-coding loci.

5 tor genes in Genome-wide association studies loci.

6 es to the functional landscape of multigenic loci.

7 engraftment with edits at all three genomic loci.

8 or diseases that share common susceptibility loci.

9 , we identified 8216 21-PHAS and 626 24-PHAS loci.

10 and individual gene trees using thousands of loci.

11 n from genetic incompatibilities at Z-linked loci.

12 ctor transcripts at T2DM GWAS susceptibility loci.

13 ents, CRISPR/Cas9 cannot access many genetic loci.

14 OB3 reduces binding of PIF4 to shared target loci.

15 ) have identified 41 risk variants across 41 loci.

16 eriphilin promote HUSH aggregation at target loci.

17 previously reported and 4 newly significant loci.

18 ere enriched for kidney disease genetic risk loci.

19 ble of copying their sequence to new genomic loci.

20 anding the molecular basis of the associated loci.

21 r mechanisms underlying four of the 22 novel loci.

22 nabled the detection and characterization of loci.

23 egrate into locations distinct from germline loci.

24 r exponential-and their precise geographical loci.

25 -binding sites emerged in normally quiescent loci.

26 We pinpointed 37 genes in 36 loci.

27 otal of 85 cutaneous melanoma susceptibility loci.

28 y-environment interaction in rust resistance loci.

29 with novel, to our knowledge, susceptibility loci.

30 pendent GWAS, including one of the two novel loci.

31 onsisting of hundreds of single-copy nuclear loci.

32 eptibility genes/variants from multiple GWAS loci.

33 kely to overlap OMIM genes (2.94-fold), GWAS loci (1.52-fold), and non-coding RNAs (1.44-fold), compa

34 Lastly, even between L2HGDH and HIF1A loci, 14q was found to have several other yet-to-be-char

35 en associated with deficient XCI at multiple loci(2-6).

36 Among these loci, 20 are novel for SCZ, and four are novel for BD.

37 Among the identified loci, 21 were located in regions previously reported for

38 ctively, our identification of four reported loci (2p23.1, 5p15.33, 6p21.32, and 6p21.33) and two nov

39 Low pass sequencing identified 859 growth loci, 38 paclitaxel loci, 62 interaction loci, and three

40 ssociation signals for 459 cell traits at 70 loci (53 of them novel) identifying several molecules an

41 ng identified 859 growth loci, 38 paclitaxel loci, 62 interaction loci, and three loci for mitochondr

42 5p15.33, 6p21.32, and 6p21.33) and two novel loci (6p22.1 and 18q22.2) for SCCHN risk highlight the i

43 et, molecular studies are needed to identify loci accounting for genetic heritability.

44 k profiles for 3,025 genome-wide independent loci across 19,155 disease classification codes from 320

45 umber of independent genome-wide-significant loci across all diseases (for example, 690 loci for LT-F

46 ancing selection, similar to allorecognition loci across the tree of life.

47 covery of isolates missing one of the typing loci, adh-1, raises concern about its suitability for co

48 to protect exposed ssDNA and repair genomic loci affected by DNA damage.

49 divergent strains, we mapped 86 trans-acting loci affecting the expression of ten genes.

50 Seventeen identified MD loci also are associated with breast cancer risk in an i

51 At the same time, a few loci also exhibit indications of possible selection agai

52 ies, with a disproportionate number of these loci also shown to be under selection between water buff

53 Expression quantitative trait loci analyses identified multiple SNPs associated with e

54 Expression quantitative trait loci analysis (n = 114), correlation analysis (n = 156)

55 (-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleo

56 also be genotyped using a subset of the SNP loci and additional markers enable the detection of symb

57 D variants in CD33, INPP5D, SORL1, and TREM2 loci and curate a comprehensive atlas comprising ATAC-se

58 %) for targeted knock-ins at eight zebrafish loci and efficient integration at safe harbor loci in po

59 s in diverse populations identify additional loci and elucidate disease-associated genes, biology, an

60 s, provides a foundation to identify genetic loci and genes controlling micronutrient content in whea

61 e present study, we sought to fine-map known loci and identify novel genes by determining putative re

62 accessibility both across megabase-long AgR loci and locally at the recombination signal sequences (

63 and quantifying expression from unannotated loci and microRNA isoforms (isomiRs).

64 Different disease-associated loci and pathogenic gene mutations were identified in ea

65 refine association signals at T2D-associated loci and provide experimental validation for one such si

66 in structure, but how HUSH recognizes target loci and represses their expression remains unclear.

67 -talk of regulatory elements within adjacent loci and safeguard the specificity of action of promoter

68 educe Notch-dependent transcription at other loci and sensitize tissues to gene dose based upon signa

69 nusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-th

70 e assessed patterns of orthology among these loci and those controlling the trait in other species.

71 molecular mechanisms of known susceptibility loci and to detect and interpret pleiotropic effects.

72 vel the functional mechanisms underlying CAD loci and to identify novel molecular biomarkers.

73 ora of genetic associations between distinct loci and various traits have been successfully discovere

74 interspecies recombination can affect other loci and whether new recombinants continue to be generat

75 We evaluated nuclear (microsatellite loci) and mitochondrial diversity across eight populatio

76 with SCC, confirm all previously associated loci, and perform fine mapping of causal variants.

77 wth loci, 38 paclitaxel loci, 62 interaction loci, and three loci for mitochondrial abundance at geno

78 yielded seven newly genome-wide significant loci, and we identified an additional eight loci by inco

79 We mapped 602 APA quantitative trait loci (apaQTLs) at 10% FDR, of which 152 were nuclear spe

80 Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate on

81 selection screening approach in which edited loci are deep sequenced, and candidate sites are priorit

82 Dynamic loci are enriched for hydroxymethylcytosine and overlap

83 d loops of minimal G4s within individual LG4 loci are frequently highly complementary to one another

84 Alleles at fungal allorecognition loci are highly polymorphic, fall into distinct haplogro

85 dentified, but the causatives genes at these loci are largely unknown, so that functional investigati

86 Nearly all disease-associated risk loci are located in the non-coding region of the genome

87 These changes in chromatin at AgR loci are regulated in a locus-, lineage-, and stage-spec

88 inciples that govern assembly of these large loci as well as for mechanisms that might contribute to

89 We found 41 loci associated (P < 5 x 10(-8)) with left-handedness an

90 on studies have uncovered over a 100 genetic loci associated with atrial fibrillation (AF), the most

91 Studies) have identified hundreds of genetic loci associated with atrial fibrillation (AF).

92 association studies have identified genetic loci associated with insulin resistance (IR) but pinpoin

93 Forty six unique loci associated with mood instability were identified wi

94 We have identified three loci associated with neck or shoulder pain in the UK Bio

95 We discover eight novel loci associated with SCC, confirm all previously associa

96 ation studies (GWAS) have reported dozens of loci associated with serum urate control; however, there

97 of strain-specific variants revealed genetic loci associated with several goldfish phenotypes, includ

98 tion in the MAMP response in sorghum, to map loci associated with this variation, and to investigate

99 We identified 611 loci associated with time-to-event phenotypes of 12 comm

100 nd 2, we identified 84 known and 18 novel BP loci at genome-wide significance level (P < 5 x 10(-8)).

101 genetic colocalization analysis to identify loci at which gene expression could potentially explain

102 ly complementary to one another with 178 LG4 loci averaging >35 internal loop:loop complements of >8

103 4.0% of loci being affected by selection.

104 by reviewing the evidence for shared genetic loci between T2D and CHD; by examining the formal testin

105 Analysis of genomic loci bound by GATA3 during reprogramming suggests a corr

106 ossible to visualize not only single genomic loci but the whole genome simultaneously.

107 er-silencer at H-NS-repressed quorum sensing loci by disrupting H-NS nucleoprotein complexes that blo

108 loci, and we identified an additional eight loci by incorporating the results from samples with Lati

109 sed power in detecting functionally relevant loci by leveraging expression quantitative trait loci (e

110 show that TFL1 is recruited to thousands of loci by the bZIP transcription factor FD.

111 These clusters of linked loci can spread in populations because they captured coa

112 easured the trajectories of single chromatin loci, centromeres, and telomeres in live cells and analy

113 itized several dozen genes where significant loci co-localized with either expression quantitative tr

114 BX1 preferentially binds to a subset of gene loci cobound by RUNX1 and gene-activating machineries (p

115 Several of these CT loci coincided with the genomic regions from previous st

116 ic experiments from baboon and human genomic loci confirm these expression differences and suggest th

117 rced heterochromatin formation at implicated loci confirms that resistance results from heterochromat

118 In silico analyses showed that these five loci contained cell-specific enhancers that differed bet

119 genes, suggesting that interactions at these loci contribute to the fine-tuning of transcription.

120 equencing, and expression quantitative trait loci data.Measurements and Main Results: We discovered a

121 ify 39 candidate functional variants from 14 loci displaying allelic transcriptional activity, a subs

122 to change the activities of specific genomic loci during early intrathymic development to establish T

123 the other hand, chromatin quantitative trait loci, elucidated by direct epigenetic profiling of speci

124 revealed an enormous number of biosynthetic loci encoding RiPPs but whose products remain cryptic.

125 r strains that acquired multidrug resistance loci, encoding enzymes that confer resistance to nonrela

126 brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals

127 ataset and the expression quantitative trait loci (eQTL) dataset.

128 issue-specific expression quantitative trait loci (eQTL) information to help annotate a set of genomi

129 epigenome and expression quantitative trait loci (eQTL) to identify susceptibility genes/variants fr

130 MEI-associated expression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs

131 he majority of expression quantitative trait loci (eQTLs) for the gene expression traits in the two e

132 by leveraging expression quantitative trait loci (eQTLs) from external reference panels in relevant

133 ariability and expression quantitative trait loci (eQTLs) in humans and chimpanzees, using gene expre

134 rs6004160 are expression quantitative trait loci (eQTLs) of CRKL.

135 n, revealed by expression quantitative trait loci (eQTLs), exhibits complex patterns of tissue-specif

136 lection in the native ranges, with 15-47% of loci exhibiting significant signatures of balancing sele

137 approaches, uncovered 31 potential secondary loci for a total of 85 cutaneous melanoma susceptibility

138 f 28 regions as potential quantitative trait loci for ascites.

139 We identify expression quantitative trait loci for both ACE2 and TMPRSS2, that vary in frequency a

140 tive method to detect disease susceptibility loci for clinic genomic data.

141 statistical power to identify novel genetic loci for depression.

142 oint association showed not only significant loci for genetic generalized and developmental and epile

143 in genomic regions containing susceptibility loci for inflammatory bowel disease and chronic pancreat

144 ified 44 common genome-wide significant risk loci for late-onset Alzheimer's disease (LOAD).

145 t loci across all diseases (for example, 690 loci for LT-FH versus 423 for GWAS); relative improvemen

146 asets will facilitate interpretation of risk loci for lung diseases.

147 litaxel loci, 62 interaction loci, and three loci for mitochondrial abundance at genome-wide signific

148 ht the importance of human leukocyte antigen loci for oropharyngeal cancer risk, suggesting that immu

149 y characterized by a panel of microsatellite loci for P. falciparum (26) and P. vivax (11), respectiv

150 ated with morphine to map quantitative trait loci for respiratory depression, recovery time and survi

151 nd East Asian populations to identify 10 new loci for serum urate levels.

152 Veteran Program (MVP) where we identified 18 loci for smoking trajectory of current versus never in E

153 We also identified 2 known loci for urine albumin-to-creatinine ratio (BCL2L11 rs11

154 nd HBB rs344, P=9.3x10(-11)) and validated 8 loci for urine albumin-to-creatinine ratio previously id

155 eractions between repressive elements in the loci, forming a genomic subcompartment, rather than by c

156 elic variants at the SD1-2, 7-1, 7-2, and 12 loci from weedy and cultivated rice (Oryza sativa) were

157 xpression and methylation quantitative trait loci, given the early onset of these disorders.

158 s mismatched at HLA-A, HLA-B, HLA-C, or DRB1 loci) graft following myeloablative or non-myeloablative

159 s, identification of genome-wide significant loci has been difficult.

160 Characterization of enhancer loci has identified the molecular features of active enh

161 Although thousands of loci have been associated with human phenotypes, the rol

162 Genetic risk loci have been identified, but the causatives genes at t

163 Multi-trait loci have been linked with several age-related diseases,

164 Whereas hundreds of genetic loci have been shown to be involved in the regulation of

165 Seven of these loci have previously been identified for this dual pheno

166 Most loci identified by GWASs have been found in populations

167 The rapid development of flexible genomic loci imaging approaches can address fundamental question

168 mputed genotypes, and followed-up associated loci in 1,459 Europeans (150 cases; 1,309 controls) from

169 (7)), interacts with R-loop-enriched loci in dividing cells.

170 recombination suppression around mating-type loci in fungi, sometimes encompassing vast regions of th

171 f the candidate genes within identified risk loci in periderm development, embryonic patterning, and/

172 les for each of the four primary DNA barcode loci in plants: rbcL, matK, trnH-psbA, and ITS.

173 oci and efficient integration at safe harbor loci in porcine and human cells.

174 sible genes (16 in total) near the top 10 IR-loci in risk-relevant cell types, namely preadipocytes a

175 ction, these results identify many candidate loci in the study of corneal diseases that lead to sever

176 the variant allele fraction at expressed SNV loci in the transcriptome (VAFRNA).

177 diomyocyte transcription in targeted genomic loci in vivo has not been demonstrated so far.

178 risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced I

179 endent pathway for relocating activated gene loci in yeast.

180 2 occupancy at many of these putative target loci, including Fgf18, in the developing palatal tissues

181 we identify 45 brainstem-associated genetic loci, including the first linked to midbrain, pons, and

182 Most loci influenced protein but not mRNA of a given gene.

183 AS) provide an unbiased approach to identify loci influencing serum uric acid.

184 of the reversible silencing of 35S/45S rDNA loci inherited from one of the ancestors of an allopolyp

185 enables deconvolution of complex regulatory loci into modular units.

186 n-specific regulatory elements and implicate loci involved in cancer development, immune regulation,

187 C) content and CpG density surrounding tRNA loci is exceptionally well correlated with tRNA gene act

188 ind that CHH DNA methylation of most 24-PHAS loci is increased in meiotic anthers of control plants b

189 The linear order of chromosomal loci is maintained in the axial cores, whose formation r

190 d for genes it activates while decreasing at loci it represses under normal conditions.

191 451 causal variants, which underlie genetic loci known to affect gene expression.

192 Different sex-determining loci (linkage group 1, 20 and 23) have been detected in

193 We identify 16 loci linked to African environmental adaptations across

194 ective of this study was to identify genetic loci linked to risk of contracting a bloodstream infecti

195 Furthermore, three loci located in GABBR2, RUFY3, and in an intergenic regi

196 However, prior work compared trans-acting loci mapped in separate studies, many of which had limit

197 gh many studies have used quantitative trait loci mapping and genome-wide association to identify gen

198 While some of the identified loci matched with those previously reported, we present

199 highlight the potential exploitation of acr loci neighborhoods for the identification of previously

200 reatly reduced ER binding at the majority of loci normally bound by ER.

201 Additionally, 8 loci not previously reported harbor genes underlying inh

202 deletions in BRD4 and rearrangements in the loci of AKR1C genes.

203 6N and Balb/C mice revealed that polymorphic loci of Crb1 and Cyfip2 underlie the ectopic position of

204 ned a high-resolution map of the integration loci of multiple patients.

205 odeling, we find that the early pathological loci of NFTs in CTE brains are regions of high deformati

206 Still, the specific loci of these neural patterns differed between both subj

207 nalysis for the PR interval, discovering 202 loci of which 141 have not previously been reported.

208 Across the three traits, we identify 31 loci, of which 21 were previously unreported.

209 X1, RFX2 and RFX3 occupy many shared genomic loci, only RFX2 and RFX3 play a prominent and redundant

210 ed with either expression quantitative trait loci or chromatin interactions.

211 not physically linked to wing-color pattern loci or other genomic regions associated with visual mat

212 that the reduction of gene flow for Z-linked loci primarily reflects female-biased gene flow, arising

213 Three quantitative trait loci (QTL) for delta(13) C(leaf) were found and co-local

214 ion Consortium (BCAC) and quantitative trait loci (QTL) from the Genotype-Tissue Expression (GTEx) pr

215 s, and we identified five quantitative trait loci (QTL) significantly associated with six traits.

216 Several quantitative trait loci (QTLs) associated with the trait have been identifi

217 , genome-wide significant quantitative trait loci (QTLs) associated with weight and length were detec

218 this study, we mapped the quantitative trait loci (QTLs) of m(6)A peaks in 60 Yoruba (YRI) lymphoblas

219 c mapping to identify the quantitative trait loci (QTLs) that mediate how leaf area scales with leaf

220 Seventy-three loci reached genome-wide significance in the meta-analys

221 n analyses identified 16 putatively adaptive loci related mainly to biotic and abiotic stress resista

222 iability (HRV), but candidate genes in these loci remain uncharacterized.

223 hich the background interacts with Mendelian loci remain unclear.

224 us variation being due to multiple Mendelian loci remains unchanged.

225 ichment in genes within the significant GWAS loci reported by the Psychiatric Genomic Consortium (PGC

226 played a key role in determining the genetic loci responsible for drug resistance, virulence, invasio

227 suggested, where the combined effect of two loci resulted in a genetic effect upon phenotypic varian

228 ective sweeps containing candidate cognition loci reveal multiple cases of hard selective sweeps with

229 d CRISPR/Cas9 base editing of endogenous AGS loci revealed causal roles of one AGS-specific amino aci

230 xpression and methylation quantitative trait loci revealed the contribution of genetic variation to t

231 ed to identify the underlying genes for both loci, revealing that that LATE3 and LATE4 are orthologs

232 Mismatches in other loci seem to have less effect.

233 However, loci selected for improving grain productivity remain la

234 Higher doses of NAC reduced risk of macular loci sensitivity loss in RP.

235 ults in interactions between distant genomic loci separated by tens to hundreds of megabases, even in

236 PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries.

237 fricans identified three associations at two loci, SLC2A9 and SLC22A12.

238 sing this platform we discovered wide-spread loci specific sensitivities to epi-drugs for three disti

239 epidermal 5-hmC in murine psoriasis revealed loci-specific loss of 5-hmC in genes regulating stem cel

240 loci (eQTLs) and splicing quantitative trait loci (sQTLs) in 48 tissues.

241 We conclude that recently evolved TE loci such as BANCR may represent potent de novo developm

242 In response to replication stress, certain loci, such as common fragile sites and telomeres, remain

243 biological pathways; however, nonoverlapping loci suggests alternative mechanisms may exist that unde

244 between QT dynamics and resting QT interval loci suggests common biological pathways; however, nonov

245 rmethylation of histone 3 lysine 9 (H3K9) at loci surrounding DNA breaks, masking a local H3K9 trimet

246 association studies (GWAS) identified eight loci that are associated with heart rate variability (HR

247 a genome-wide association study to identify loci that are associated with PID, and found evidence fo

248 disease associations and to fine-map genetic loci that are associated with prostate and other cancers

249 ickase to mimic actively transcribed genomic loci that are more susceptible to cytidine deaminase, we

250 a number of previously unknown or overlooked loci that are worthy of further investigation.

251 ed selection relies on the identification of loci that contain more or less ancestry from a given sou

252 has occurred during domestication by way of loci that dominantly inhibit awn development, such as Ti

253 ap hundreds of expression quantitative trait loci that influence expression dynamically during differ

254 Loci that mapped to coral, symbiont, and microbial refer

255 oding RNAs (lncRNAs) and discriminate lncRNA loci that produce functional RNAs from those whose activ

256 Many of the tandem repeat loci that we detected correlated with cytogenetic fragil

257 We identified three genetic loci that were associated with neck or shoulder pain in

258 We identified alleles in 4 loci that were associated with the reproductive subtype

259 study provides a high-resolution map of eRNA loci through which super-enhancer activities can be quan

260 rated at a smaller number of heterochromatic loci throughout the genome, especially at loci which als

261 large and multiethnic study, we identified 2 loci, TMEM40 and BAG3, associated with EF at a genome-wi

262 ionally link BE events at endogenous genomic loci to cellular enzymatic activities in human and mouse

263 genome-wide association to identify genetic loci to improve micronutrient contents, recent developme

264 ompanied by chromatin remodeling of specific loci to permanently silence genes that are not essential

265 required to tether transcriptionally active loci to the nuclear pore complex (NPC), and it also prom

266 we show that multiple linked but recombining loci underlie cryptic color morphs of Timema chumash sti

267 Here, we report hundreds of loci underlying ecological adaptation to different geogr

268 ralization occurs largely through changes at loci unrelated to domestication.

269 egulate gene expression at target endogenous loci up to 20-fold or more depending on the gene.

270 ver, the degree to which pathogen resistance loci vary in effect across space and time is incompletel

271 transcripts was identified from these lncRNA loci via tandem mass spectrometry, which paved the way f

272 enrichment of expression quantitative trait loci was detected among the CC-susceptibility variants i

273 ying the risk across multiple susceptibility loci was strongly associated with CC risk.

274 the allelic variation of the Adh and delta-1 loci, we found additional but different minor QTLs in th

275 -quality set of PCR-based genotyping of >200 loci, we show that TypeTE improves genotype accuracy fro

276 no genetic effect was detected when the two loci were considered separately.

277 Notably, mice in which both Nf1 and Rac1 loci were disrupted (Nf1(flox/flox)Rac1(flox/flox);Postn

278 Notably, mice in which both Nf1 and Rac1 loci were disrupted (Nf1(flox/flox)Rac1(flox/flox);Postn

279 These same loci were enriched for signatures of long-term balancing

280 es, genes in kidney function-associated GWAS loci were enriched in kidney (P=9.1E-8 for eGFR; P=1.2E-

281 were common among patients, their anatomical loci were highly inconsistent between individuals.

282 Loci were identified as clusters of single nucleotide po

283 Seven additional loci were identified at suggestive significance (P < 10(

284 f the nod locus, as well as in other plasmid loci, were associated with differences in CFN.

285 ch allows for precise allele quantitation in loci where the RNA alleles do not scale with the genotyp

286 ic loci throughout the genome, especially at loci which also produced siRNAs in other tissues.

287 CBs associate with specific gene loci, which impacts expression and provides a platform f

288 vity, and by systematically mutating 245 HOT loci with a massively parallel mutagenesis assay, we loc

289 chloroplast genome, there are 46 RNA editing loci with an average RNA editing efficiency of 63%.

290 wever; for example, the tremendous number of loci with causal mutations.

291 RNA polymerase transcribes certain genomic loci with higher errors rates.

292 ms bridging the association of their genomic loci with IR.

293 Loci with low baseline sensitivity were more likely to d

294 oses had 5.75% and 2.01% polymorphic metAFLP loci with methylation and sequence changes, respectively

295 of reporter expression at different genomic loci with multiple epigenetic profiles including the enr

296 ends on the high mutation rate of one or few loci with short tandem repeats.

297 of lncRNA, which excludes those lncRNA gene loci with small open reading frames from being regarded

298 the Ig heavy-chain (IgH) and Ig kappa (IgK) loci with the human IgK germline variable sequences, pro

299 of recent positive selection by identifying loci with unusually strong shared ancestry and detect 12

300 tification of the m(6)A fraction at specific loci, with the potential for multiplexed quantifications

301 henotypes of 12 common diseases, of which 38 loci would be missed within a logistic regression framew