ライフサイエンスコーパス: CNV

1 CNV was present in 148 patients (49%) and retinal atroph

2 CNVs comprise a large proportion of variation in human g

3 CNVs have large mirror effects on FC at the global and r

4 CNVs hitting loss-of-function intolerant genes were asso

5 CNVs were generated from exome sequencing of 4913 schizo

6 presence of treatment-naive quiescent type 1 CNV and by a factor of 0.46 (95% CI, 0.41-0.51) in the p

7 with a potential protective effect of type 1 CNV on the RPE and overlying neurosensory retina.

8 calizing with quiescent and exudative type 1 CNV.

9 41-0.51) in the presence of exudative type 1 CNV.

10 ing magnetic resonance imaging data from 101 CNV carriers, 755 individuals with idiopathic ASD, SZ, o

11 As a result, a total of 1649 CNV regions (CNVRs) were successfully identified after m

12 uding the well-established pathway of type 2 CNV progression to FGL and the progression of type 1 fib

13 verse phenotypes in individuals with 16p11.2 CNVs, and synthesize preclinical findings from transgeni

14 ings from transgenic mouse models of 16p11.2 CNVs.

15 elopmental disorders associated with 16p11.2 CNVs.

16 22q11.2 CNVs differentially modulate intellectual functioning an

17 We profiled the impact of 22q11.2 CNVs on neurobehavioral measures relevant to ASD and psy

18 overlap with regulatory regions, with 23/28 CNVs disrupting histone peaks in ENCODE (p < 0.009).

19 A events from TCGA and COSMIC; (iii) 112 674 CNV-ceRNA events from TCGA; (iv) 67 066 SNP-ceRNA events

20 In 40% of cases (41/102), a CNV was detected on FA.

21 pact of gene dosage variation triggered by a CNV spanning the SEC10 gene on SEC10 expression at both

22 and indicates new areas of discussion about CNV in this disease.

23 ction of leukocytes within the choroid after CNV induction.

24 their flexibility in modeling the aggregate CNV effects, their ability to capture effects from diffe

25 els to estimate the effect size on IQ of all CNVs, including undocumented ones.

26 set of voltage-gated calcium channels among CNVs called from both exome sequencing and genotyping ar

27 DDs from combined radiology, morphology, and CNV assessments may be possible.

28 ox proportional hazards models using SPM and CNV data for 29 different TCGA cohorts.

29 ns between the extent of angioid streaks and CNV or macular atrophy were investigated using regressio

30 Furthermore, we integrated SV and CNV data into a unifying karyotype-graph structure to pr

31 55 different pathogenic point mutations and CNVs in 13 genes/loci responsible for nonsyndromic and s

32 findings, facial morphological variants, and CNVs, statistically significant relationships were found

33 eneity without the need to define artificial CNV loci as required in current kernel methods.

34 We evaluated if ASCAT-assessed CNV are associated with survival outcomes in 56 patients

35 1.5-3% of patients carry epilepsy-associated CNVs.

36 ce that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307).

37 arriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in imme

38 prevalence and penetrance of large autosomal CNVs and chromosomal aneuploidies using a standard CNV d

39 hich confirmed the results of SNP chip-based CNV analysis.

40 zumab every 4 weeks with documented baseline CNV type, total area, and leakage area were analyzed.

41 With increasing baseline CNV total area and leakage area, the incidence rate of f

42 additional evidence for the role of baseline CNV features (CNV type, total area, and leakage area) in

43 We do not find any association between CNV burden and cognition.

44 s using ASD subdomains distinguished between CNV cases with 76% accuracy.

45 Cognitive deficits were observed in both CNV groups, with the lowest IQs in deletion carriers.

46 association areas, which was absent in both CNV groups.

47 Both CNVs are associated with autism spectrum disorder (ASD),

48 and transposable elements (TEs) affected by CNVs, we revealed that the variation statuses of genes a

49 Compared to other CNV callers, CNV Radar showed high sensitivity and specificity.

50 l fluid than eyes with predominantly classic CNV (both P < 0.01).

51 Eyes with predominantly classic CNV (mean best-corrected visual acuity [BCVA], 48.2 lett

52 The catalog of CNVs, CNV-overlapping genes, and their genotypes in a top mode

53 d RPE atrophy without evidence of coexisting CNV (n=81).

54 Similar results were observed when comparing CNV Radar calls to single nucleotide polymorphism array

55 ed for development of macular complications (CNV, large areas of RPE atrophy [at least 250 mum in dia

56 e rate with FISH for del17p, a risk defining CNV event (88% in POLLUX and 90% in CASTOR), therefore a

57 uggest that CONCUR is well powered to detect CNV effects in the Swedish Schizophrenia Study and the T

58 n OCT alone can be relied upon for detecting CNV activity while monitoring eyes with neovascular AMD.

59 ivity and specificity of SD OCT in detecting CNV activity was 91% (95% confidence interval [CI], 84%-

60 greement between SD OCT and FFA in detecting CNV activity.

61 sensitivity of the examination in detecting CNV in chronic CSCR.

62 ir ability to capture effects from different CNV features, and their accommodation of effect heteroge

63 Nine eyes (12.7%) displayed CNV, 9 eyes (12.7%) had large areas of RPE atrophy, and

64 The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disord

65 btle differences in ASD profiles distinguish CNV groups.

66 ree from a definition of locus and evaluates CNV-phenotype associations by comparing individuals' cop

67 molecule inhibitor of RUNX1, in experimental CNV is reported.

68 =7), RPE atrophy with a history of exudative CNV (n=10), and RPE atrophy without evidence of coexisti

69 xima A), 3.55 (0.16) mm(2) in the fellow eye CNV cohort (Proxima B), and 2.96 (0.25) mm(2) in the fel

70 29) and -7.57 (1.26) in Proxima B fellow eye CNV cohort, and -11.48 (3.39) and -8.37 (3.02) in Proxim

71 ve (cAUC) kernel" to model the multi-feature CNV effects.

72 dence for the role of baseline CNV features (CNV type, total area, and leakage area) in influencing v

73 and the progression of type 1 fibrovascular CNV to FGL or fibroatrophic lesion.

74 a FGFR1-ERLIN2 fusion associated with focal CNVs in both genes in a single ASCP.

75 expected role of non-NLRP3 inflammasomes for CNV and suggest that combination therapies targeting inf

76 ate that the utility of exome sequencing for CNV calling has yet to be maximized, and note that singl

77 ression signal and allelic shift signals for CNV calling.

78 f-heterozygosity (LOH) which is valuable for CNV identification.

79 r facial morphological variants, and 183 for CNVs.

80 HER2 gene CNV was also assessed in formalin-fixed paraffin-embedde

81 ExomeDepth) to expand our set of single-gene CNVs and leveraged two different approaches for validati

82 t to be maximized, and note that single-gene CNVs should be included in gene-focused studies using ot

83 to the potential contribution of single-gene CNVs to schizophrenia, indicate that the utility of exom

84 In general, CNV data predicts prognosis better than SPM data with th

85 Genomic CNV may be a novel prognostic biomarker for WHO grade IV

86 st patient, sequenced using the 10X Genomics CNV solution with sequencing coverage ~0.03x, SBMClone r

87 HER2 CNV examination could distinguish healthy individuals an

88 tion for survival differences based on HIF1A CNV and mRNA expression.

89 Remarkably, HIF1A CNV had a markedly stronger correlation with L2HGDH expr

90 neralized epilepsy patients have the highest CNV burden in all categories tested, followed by develop

91 However, CNV loci are arbitrarily defined and different locus def

92 Distribution of HP CNV genotype was: HP1-1 n=132 (18.1%); HP2-1 n=342 (46.8

93 We found no evidence of association of HP CNV or rs200999 with functional outcome, ICH volume or P

94 We hypothesised that the HP CNV associates with long-term outcome beyond the first y

95 To investigate mediation of the HP CNV effect by haptoglobin expression level, as opposed t

96 The HP CNV was typed using quantitative PCR in 1299 aSAH surviv

97 44 patients with aSAH and related to the HP CNV.

98 haptoglobin expression independent of the HP CNV.

99 tients into three groups according to the HP CNV: 1-1, 2-1 or 2-2 and also dichotomised HP into HP1-c

100 ing-based transcriptional signature of human CNV, characterizes its compositional pattern of immune a

101 e rare variant association studies, identify CNVs associated with major disease categories, and illus

102 If CNV was detected by OCT angiography (OCTA), its location

103 the en-face and the cross-sectional images, CNV was identified in 13 eyes with the rest OCT-A and in

104 More importantly, CNV Radar demonstrated its utility in the clinical trial

105 CNV, (2) whether inflammasome activation in CNV occurs via NLRP3 or also through NLRP3-independent m

106 ctivation induces inflammasome activation in CNV.

107 brain-behavior relationships were altered in CNV carriers, we further tested for interactions between

108 However, we observed striking differences in CNV burden across epilepsy types and investigated CNV ca

109 cal epilepsy patients, showed an increase in CNV burden in at least one tested category compared to c

110 (DEGs) that were significantly increased in CNV compared with control tissue.

111 ration of a stringent filtering procedure in CNV studies with suitable bioinformatics approaches can

112 However, its role in CNV remains to be elucidated.

113 n processing speed and cortical thickness in CNV carriers, implicate aberrant development of the cort

114 des functionality for summarizing individual CNV calls across a population, assessing overlap with fu

115 nt inflammasome activation mechanisms induce CNV.

116 163 (CD163)(+) macrophages in laser-induced CNV lesions and higher expression of CD163(+) monocytes

117 ibitor PLX5622 on experimental laser-induced CNV.

118 Inflammatory CNV may be rarely associated with pregnancy.

119 She was diagnosed with an inflammatory CNV based on the following multimodal imaging findings:

120 Herein, we report a case of inflammatory CNV during pregnancy and describe a previously unreporte

121 nt may offer synergistic benefits to inhibit CNV.

122 These models will help to interpret CNVs identified in the clinic.

123 urden across epilepsy types and investigated CNV categories.

124 Here, we present the largest CNV investigation in epilepsy to date with 10 712 Europe

125 Results may explain why many CNVs affect a similar range of neuropsychiatric symptoms

126 k and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scal

127 tive and safe drug in cases of active myopic CNV; however, a larger number of patients and a longer f

128 between inflammatory, idiopathic, and myopic CNV may be challenging.

129 h the absence of tomographic signs of myopic CNV, and the presence on autofluorescence of multiple hy

130 Patients with myopic CNV younger than 40 years needed fewer injections (2.00

131 n of ziv-aflibercept in patients with myopic CNV.

132 itical role in choroidal neovascularization (CNV) and may, therefore, be potential targets to modulat

133 he type of the choroidal neovascularization (CNV) at the start of treatment were similar between the

134 Choroidal neovascularization (CNV) can complicate AMD and lead to severe visual acuity

135 d in promoting choroidal neovascularization (CNV) in age-related macular degeneration (AMD), but cent

136 nal profile of choroidal neovascularization (CNV) in body donor eyes with neovascular age-related mac

137 ral GA without choroidal neovascularization (CNV) in either eye (N = 295).

138 Choroidal neovascularization (CNV) in pregnancy has rarely been described.

139 Myopic choroidal neovascularization (CNV) is the most common sight-threatening complication a

140 mmune cells in choroidal neovascularization (CNV), a hallmark of the human wet, or neovascular age-re

141 de novo and known recurrent neuropsychiatric CNVs.

142 eral cognitive ability than nonschizophrenia CNV carriers in discovery (beta = -0.66, 95% confidence

143 CoDE-seq also identified 28 rare or novel CNVs associated with intellectual disability in 22 addit

144 rapid acquisition of novel, high copy number CNVs during adaptation to azole antifungal drugs.

145 of cases identified by FFA only were occult CNV lesions.

146 of 15 letters or more than eyes with occult CNV (mean BCVA, 57.9 letters at baseline; P < 0.01).

147 Eyes with occult CNV at baseline showed higher incidence rates of first s

148 nificantly change in the peripheral blood of CNV mice.

149 ntation artifacts and incomplete coverage of CNV on SS-OCTA en face images may impede identification

150 th early/intermediate AMD and a diagnosis of CNV in the fellow eye progressed to CNV fastest (at a ra

151 is of the literature exploring the effect of CNV burden on general intelligence.

152 The proposed method captures the effects of CNV dosage and length, accounts for the numerical nature

153 Evaluation of CNV Radar in a public multiple myeloma dataset demonstra

154 uid, and/or cystoid spaces); (2) evidence of CNV activity on FFA identified by the presence of leakag

155 D OCT data were analyzed for (1) evidence of CNV activity on SD OCT (presence of subretinal fluid, in

156 rrelated with cortical spatial expression of CNV genes in neurotypical adults.

157 en face images may impede identification of CNV.

158 lication of MLPA aids the identifications of CNV and aneuploidy in childhood B-ALL.

159 clinical implications for the management of CNV and lead to new therapeutic strategies to prevent at

160 l types involved in a laser-induced model of CNV in mice.

161 ated OCTA en face images for the presence of CNV masked to all other images of the patient.

162 streaks was associated with the presence of CNV when adjusted for age and sex (odds ratio, 1.9; 95%

163 aks are associated with an increased risk of CNV and macular atrophy, even after adjustment for age.

164 ing was systematically assessed for signs of CNV and macular atrophy.

165 ence of leakage, and (3) cross-tabulation of CNV activity identified by FFA and SD OCT by office visi

166 Analysis of CNVs containing inverted duplicated DNA sequences using

167 The catalog of CNVs, CNV-overlapping genes, and their genotypes in a to

168 that lead to the formation of this class of CNVs.

169 ly annotating the regulatory consequences of CNVs.

170 the reads and utilizes it for correction of CNVs calls.

171 use it to annotate regulatory disruption of CNVs from 14,891 independent genome-sequenced individual

172 ntolerant" (pLI) best explains the effect of CNVs on IQ and autism risk.

173 family study, we investigated the effects of CNVs on specific cognitive abilities.

174 ements act as hot spots for the formation of CNVs.

175 es, and illustrate the pleiotropic impact of CNVs in human disease.

176 ical analyses revealed that the incidence of CNVs increases significantly in SD-rich regions, indicat

177 omic resource for unveiling the incidence of CNVs that affect gene content and for identifying sequen

178 tal detection and computational inference of CNVs from SNP array and next-generation sequencing data

179 This paper investigates the influence of CNVs on cognition.

180 significantly associated with the number of CNVs (OR 1.20, 95% CI 1.00-1.44, p = 0.05, adjusted OR f

181 etic cause, with 13% of these as a result of CNVs, demonstrating a remarkably higher prevalence of mo

182 To understand the role of CNVs across human diseases, we examine the CNV genomic l

183 An expanded set of CNVs generated from integrating multiple approaches show

184 elivers a comprehensive genome-wide study of CNVs affecting barley gene content and implicates SDs in

185 to identify all disease-associated types of CNVs.

186 at CNV Radar was able to detect a variety of CNVs associated with risk of progression, and we observe

187 EGs, as confirmed by immunohistochemistry on CNV tissue and protein analysis of vitreous samples.

188 The model applied in this study, trained on CNVs encompassing >4,500 genes, suggests highly polygeni

189 Conversion to GA or CNV in the fellow eye occurred in 30% and 6.7% of partic

190 Progression to GA or CNV was observed frequently in eyes with early/intermedi

191 ermediate AMD, rates of progression to GA or CNV were 2.0 and 3.2 per 100 person-years, respectively.

192 led 3 progression pathways from the original CNV: 1) progression to type A, followed by RPE erosion a

193 that CNV Radar is more sensitive than other CNV detection methods, accurately detects clinically imp

194 Compared to other CNV callers, CNV Radar showed high sensitivity and speci

195 Overall, CNV Radar exhibited high concordance with standard metho

196 to any SHRM or PED to ensure that a possible CNV was captured in its entirety.

197 Here we present CNV Radar, a software tool that utilizes next-generation

198 nd that complement and inflammasomes promote CNV through independent mechanisms.

199 um (RPE) or rather in non-RPE cells promotes CNV, (2) whether inflammasome activation in CNV occurs v

200 non-RPE cells but not in RPE cells promotes CNV.

201 Quantified CNV was reported as log R and BAF segment counts. Result

202 Input into ASCAT quantified CNV using the segmentation function to measure copy numb

203 (RPE) atrophy with treatment-naive quiescent CNV (n=7), RPE atrophy with a history of exudative CNV (

204 To detect rare CNV associations, kernel-based methods have been shown t

205 levels of autism risk conferred by most rare CNVs remain unknown.

206 model to predict expression effects of rare CNVs and use it to annotate regulatory disruption of CNV

207 al profiles associated with these reciprocal CNVs in conjunction with brain imaging measures have not

208 Recurrent CNVs reveal genes under positive selection, sites of gen

209 d 2,241 eligible genes in the 1,532 reported CNVs, of which they classified 432 as high-priority ADHD

210 q13.3 deletion represents the strongest risk CNV for genetic generalized epilepsy across the whole ge

211 Our findings show that the known high-risk CNVs are not only associated with schizophrenia and othe

212 The characteristics of risk CNVs vary tremendously across and within epilepsy types.

213 ntegrative analysis of focal and large-scale CNV events in multiscale resolution using either bulk or

214 ting that previously reported megabase-scale CNVs in neurons arise at later stages of development.

215 Schizophrenia CNV carriers had lower general cognitive ability than no

216 ociation between cognition and schizophrenia CNV status, covarying for age and sex.

217 We examined the effect of 12 schizophrenia CNVs on cognition in those with schizophrenia.

218 variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia.

219 nd chromosomal aneuploidies using a standard CNV detection algorithm not designed for detecting mosai

220 After stringent CNV calling procedures, and standardized FreeSurfer imag

221 for which SPM data was more predictive than CNV data and the predictive accuracy is good for all mod

222 We demonstrated that CNV Radar is more sensitive than other CNV detection met

223 c multiple myeloma dataset demonstrated that CNV Radar was able to detect a variety of CNVs associate

224 Our results show that CNV carriers have reduced volume in some of the subcorti

225 The CNV area of choroidal flatmounts was evaluated by immuno

226 suggest a role for alpha attenuation and the CNV in specific visual content anticipation beyond gener

227 tes of attenuated alpha oscillations and the CNV.

228 rder to specific cell classes as well as the CNV-region genes they express.

229 tion of Ro5-3335 significantly decreased the CNV area 7 days after laser injury, and when combined wi

230 "copy number profile curves" to describe the CNV profile of an individual, and the "common area under

231 f CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals o

232 , T cells, and natural killer T cells in the CNV.

233 ngal drug can lead to a dramatic loss of the CNV and reversion to the progenitor genotype and drug su

234 2 had a significantly faster decrease of the CNV lesion size, as revealed by in vivo imaging and immu

235 f RPE atrophy in topographic relation to the CNV lesion was then analyzed using mixed-effects logisti

236 usted proportion of clinical visits when the CNV was graded active over 3 years was similar between r

237 The CNVs fully overlap with 18.3% of protein-coding genes, w

238 We then successfully used the CNVs as markers to analyze population structure and migr

239 cell karyotype analysis indicates that these CNVs appear to arise via a dicentric chromosome intermed

240 nosis of CNV in the fellow eye progressed to CNV fastest (at a rate of 15.2 per 100 person-years), an

241 rates per 100 person-years of progression to CNV (3.2-11.9) or GA (2.0-7.8) in the other subgroups.

242 al fluid as evaluated by OCT with respect to CNV type, total CNV, and leakage area.

243 he degree of evidence of flow signals due to CNVs.

244 uated by OCT with respect to CNV type, total CNV, and leakage area.

245 We integrated two CNV calling methods (XHMM and ExomeDepth) to expand our

246 We uncover CNV associations with four major disease categories, inc

247 This study therefore used CNV and control specimens that were formalin-fixed and p

248 le-exome sequencing and copy-number variant (CNV) analysis of the tumors.

249 mples with whole-genome copy-number variant (CNV), whole-exome sequencing, and Assay for Transposase-

250 large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk

251 Some rare copy number variants (CNVs) are associated with schizophrenia risk and affect

252 Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with au

253 Copy number variants (CNVs) are pervasive in several animal and plant genomes

254 Large copy-number variants (CNVs) are strongly associated with both developmental de

255 Copy number variants (CNVs) are suggested to have a widespread impact on the h

256 Copy number variants (CNVs) are the gain or loss of DNA segments in the genome

257 16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD

258 ich characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subty

259 ers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmenta

260 Specific copy number variants (CNVs) have been robustly associated with intellectual di

261 loci including several copy number variants (CNVs) of large effect and hundreds of loci of small effe

262 Functional impact of copy number variants (CNVs) stems from both the proportion of genic and regula

263 -scale allele-specific copy number variants (CNVs) using an ensemble of methods.

264 No large scale mosaic copy number variants (CNVs) were detectable in normal fetal human brains, sugg

265 gradually accumulates copy number variants (CNVs), and its telomere lengths are short but constant.

266 common to overlapping copy number variants (CNVs), as well as on protein-protein interactions and in

267 nt information such as copy number variants (CNVs).

268 l variants and genetic copy number variants (CNVs).

269 ygous SNVs, or de novo copy number variants (CNVs); however, most ASD cases continue to lack a geneti

270 tions and the contingent negative variation (CNV).

271 arrangements and gene copy number variation (CNV) are two important tools for genome evolution and so

272 Gene copy number variation (CNV) could be detected in these patients in liquid biops

273 nt mutation (SPM) and copy number variation (CNV) data, gene-level and pathway-level models for a div

274 Cancer associated copy number variation (CNV) events provide important information for identifyin

275 A HP gene copy number variation (CNV) generates HP1 and HP2 alleles, while the single-nuc

276 Copy number variation (CNV) has been examined in many species and is recognized

277 Copy number variation (CNV) is a major type of structural genomic variation tha

278 rpretation of genomic copy number variation (CNV) remains a challenge and has important consequences

279 haptoglobin) exhibit copy number variation (CNV), giving rise to HP1 and HP2 alleles, which influenc

280 ors (ASCAT) assesses copy number variations (CNV) while accounting for aberrant cell fraction and tum

281 Some copy number variations (CNV), associated with novel subtypes of childhood B-ALL,

282 ccurate in detecting copy number variations (CNV).

283 rs caused by genomic copy number variations (CNVs) and gene expression data from healthy subjects.

284 ction of whole-exome copy number variations (CNVs) and point mutations in coding regions.

285 Copy number variations (CNVs) greatly contribute to intraspecies genetic polymor

286 omatic mutations and copy number variations (CNVs) not evident in transcriptomics data.

287 Copy number variations (CNVs) of the human 16p11.2 genetic locus are associated

288 and duplications are copy number variations (CNVs) that predispose to developmental neuropsychiatric

289 one of the predicted copy number variations (CNVs) were identified, which confirmed the results of SN

290 s) to large, complex copy number variations (CNVs), have been reported in patients with ID and other

291 rs prevalent genomic copy number variations (CNVs), leading to mis-expression of ~68% of SRGs during

292 deletions (indels), copy-number variations (CNVs), loss of heterozygosity (LOH) and complex rearrang

293 which are pathogenic copy number variations (CNVs), play an important role in the initiation and prog

294 viduals with 16p11.2 copy number variations (CNVs).

295 The exploratory outcome measures were CNV size, IOP and the number of injections needed in eac

296 When CNV effects on IQ are accounted for, autism susceptibili

297 In addition, we tested whether CNVs hitting genes in schizophrenia-enriched gene sets (

298 Genome-wide CNV breakpoint association showed not only significant l

299 resistance to MD, we performed a genome-wide CNV detection using next generation sequencing on the in

300 dentifying sequence features associated with CNV formation.