ライフサイエンスコーパス: CNV

1 CNV burden was enriched for genes associated with synapt

2 CNV growth occurred in 3 predominant patterns: "symmetri

3 CNV growth was subdivided into 3 categories based on OCT

4 CNV is transmitted in nature via zoospores of the fungus

5 CNV stimulation accelerates the formation of novel allel

6 CNVs are considered random mutations but often arise thr

7 CNVs make substantial contributions to quantitative trai

8 ith positive results (21.7%) had more than 1 CNV reported.

9 e on seven cognitive tests of carriers of 12 CNVs associated with schizophrenia (n = 1087) and of car

10 During the study period, 5 of the 19 CNV patients developed exudation.

11 Deletion of the 16p11.2 CNV affects 25 core genes and is associated with multipl

12 In this study, we detected a total of 13,225 CNV events and 3,356 CNV regions (CNVRs), overlapping wi

13 Remarkably, 29 (94%) of the 31 CNV breakpoint junctions unobtainable by conventional lo

14 ected a total of 13,225 CNV events and 3,356 CNV regions (CNVRs), overlapping with 1,522 annotated ge

15 f the genes near or included within the 6664 CNVs are enriched for immunity and muscle development, a

16 re, we test this hypothesis by analysing 856 CNV loci from the genomes of 1184 healthy individuals fr

17 We annotated a list of 93 CNVs and compared their frequencies with control dataset

18 The frequencies of the 93 CNVs in the Biobank subjects were remarkably similar to

19 , we addressed this problem and identified a CNV-targeted oncogene by performing comparative oncogeno

20 The active CNV mutation shower appears to be restricted to a transi

21 Additionally, CNV analysis identified a deletion in a patient spanning

22 ession of sEH, the protective effect against CNV was lost.

23 Also, CNV detection development suffers from the lack of a gol

24 LDs indicate the absence of epistasis among CNV loci.

25 cancers, mutation load, neoantigen load, and CNV load weakly but positively associated with immune in

26 for lower overall mutation, neoantigen, and CNV loads in TNBC and HER2(+) cancers.

27 model to identify the copy number ratio and CNV boundary.

28 a, and heterogeneous combinations of RNA and CNV data.

29 lso analysed the potential effect of STR and CNV variations, as well as the infection of the brain wi

30 tinctive from pathologic RPE detachments and CNVs.

31 nguished from pathologic RPE detachments and CNVs.

32 sequence-based structures of PMD-associated CNVs further support the role of DNA replicative mechani

33 equencing in 49 subjects with PMD-associated CNVs.

34 Carriers of schizophrenia-associated CNVs and of the group of 41 other neurodevelopmental CNV

35 esized that population genetic divergence at CNV loci will differ from that found at SNP sites.

36 ing the low population genetic divergence at CNV loci.

37 reased levels of EDP and EEQ with attenuated CNV development.

38 red the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two

39 body weight, a second distal 220 kb BP2-BP3 CNV is likewise a potent driver of neuropsychiatric, ana

40 or contributor of the 16p11.2 220 kb BP2-BP3 CNV-associated neurodevelopmental phenotypes.

41 differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromat

42 Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism spectrum

43 ication of specific driver genes affected by CNV has been difficult, as these rearrangements are ofte

44 riguingly, the lengths of gained segments by CNVs are strongly correlated with clinical severity in P

45 s a low consensus among the tools in calling CNVs.

46 g mixture substructure in true breast cancer CNV data from the Cancer Genome Atlas (TCGA).

47 flow in the outer retina served as candidate CNV with OCTA.

48 hogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectua

49 eletion in vascular endothelial cells caused CNV and a phenotype similar to that observed after the d

50 tion of TGF-beta signaling in the eye caused CNV, irrespectively if it was ablated in newborn or 3-we

51 Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that

52 We hypothesized that the common CNV, named nsv823469 located on 6p22.1, and covering lnc

53 In conclusion, CNV of the PKLR, FCGR2A, FCGR2C, and FCGR3 genes is asso

54 PennCNV-Seq was able to find correct CNVs and can be integrated in existing CNV calling pipel

55 The limited performance of the current CNV detection tools for WES data in cancer indicates the

56 traenoic acids (EEQs) are vital in dampening CNV severity.

57 loged human genetic disorders and/or defined CNV hot spots in epilepsy.

58 etect rare, intragenic, single-exon deletion CNVs using WES data; this tool can be useful for disease

59 gy have created an opportunity for detecting CNVs more accurately.

60 e been detected with conventional diagnostic CNV arrays.

61 r, we identified many lineage-differentiated CNV genes across four groups, which were associated with

62 ts into understanding lineage-differentiated CNVs under divergent selection in the Chinese native cat

63 The discovered CNVs are recurrent and rare (0.01-0.2%), with large effe

64 ected Ugandan Culex quinquefasciatus display CNV for the voltage-gated sodium channel gene (Vgsc), ta

65 Probands carry more gene-disruptive CNVs and SNVs, resulting in severe missense mutations an

66 faces and visualization features can enhance CNV studies for a broader range of users.

67 rrect CNVs and can be integrated in existing CNV calling pipelines to report accurately the number of

68 Monitoring patients with existing CNV in one eye is cost saving, but monitoring is general

69 In all eyes, CNVs were located at the temporal margin of the coloboma

70 The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and

71 l CNV or multiple bilateral risk factors for CNV (large drusen and retinal pigment abnormalities) inc

72 Statistical methods for CNV association analysis can be categorized into two dif

73 ing of patients with AMD who are at risk for CNV was cost-effective compared with scheduled examinati

74 ural OCT alone has excellent sensitivity for CNV detection.

75 rming growth factor (TGF)-beta signaling for CNV formation by generating a series of mutant mouse mod

76 Sensitivity and specificity for CNV detection with en face OCTA combined with cross-sect

77 ntal approaches (especially ALN-walking) for CNV breakpoint sequencing and highlights their importanc

78 diated nested PCR walking' (ALN-walking) for CNV breakpoint sequencing in 49 subjects with PMD-associ

79 ify effects on gene expression of rare genic CNVs and regulatory single-nucleotide variants and found

80 ASD risk genes when integrating whole-genome CNVs and whole-exome sequencing data.

81 We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), single

82 Nine heterozygous CNVs were identified in 11 (6.9%) of the 160 probands.

83 used to evaluate genes within the identified CNVs that could play a role in each patient's phenotype.

84 present in an individual when it identifies CNVs differentially present between the two groups.

85 SeqCNV is able to robustly identify CNVs of different size using capture NGS data.

86 ng Illumina genotyping platforms to identify CNVs and related genes that may contribute to ASD risk.

87 We apply this method to identify CNVs that are recurrently associated with postglacial ad

88 (BAC) and human patient NGS data to identify CNVs.

89 f AMD and an improvement in visual acuity in CNV occuring over the past 2 decades in Europe.

90 ty-three eyes (80%) displayed an increase in CNV area at 1 year with a mean increase of 0.20 +/- 0.38

91 rt the role of DNA replicative mechanisms in CNV mutagenesis, and facilitate genotype-phenotype corre

92 ents to identify somatic SNVs, small indels, CNVs and gene fusions in 508 tumor-related genes.

93 of let-7 in the eye increased laser-induced CNV in wild-type mice.

94 c pathways in a mouse model of laser-induced CNV, we characterized the role of these lipid metabolite

95 However, clinical aCGH only informs CNVs in the probe-interrogated regions.

96 Interestingly, CNV was detected in 24 eyes (36.4%).

97 ray were also applied to identify intragenic CNVs.

98 Here we investigate CNVs involving the regulatory landscape of IHH (encoding

99 carry a higher global burden of rare, large CNVs than controls.

100 Eyes with HE have larger CNV lesions and more RAP.

101 integration of preprocessing steps and main CNV calling steps.

102 S introduces more biases and noise that make CNV detection very challenging.

103 Although many CNV detection tools have been developed since introducin

104 3 categories based on OCTA area measurement: CNV doubling, modest growth of less than 50%, and shrink

105 f pediatric choroidal neovascular membranes (CNVs) associated with retinochoroidal and optic nerve co

106 using a stringent strategy based on merging CNVs calls generated using Birdsuit, iPattern and PennCN

107 outperforms existing methods, enabling micro-CNV detection with kilobase resolution.

108 ed, which included eyes with treatment-naive CNV due to AMD, non-neovascular AMD, and normal controls

109 F variants and choroidal neovascularization (CNV) (OR, 1.34; 95% CI, 1.04-1.73; P = 0.023), calcified

110 on of incident choroidal neovascularization (CNV) among patients with age-related macular degeneratio

111 Choroidal neovascularization (CNV) and capillary dilations were qualitatively assessed

112 acuity, larger choroidal neovascularization (CNV) area, retinal angiomatous proliferation (RAP) lesio

113 ificantly less choroidal neovascularization (CNV) compared to wild-type controls after laser injury.

114 r influence on choroidal neovascularization (CNV) development.

115 e detection of choroidal neovascularization (CNV) in age-related macular degeneration (AMD).

116 y of quiescent choroidal neovascularization (CNV) in geographic atrophy (GA) secondary to nonexudativ

117 s with classic choroidal neovascularization (CNV) than those with occult CNV (P < 0.001).

118 Choroidal neovascularization (CNV) was manually segmented on OCTA images and compared

119 athogenesis of choroidal neovascularization (CNV), an angiogenic process that critically contributes

120 laser-induced choroidal neovascularization (CNV), bright white-light exposure, and Fam161a-associate

121 od vessels, or choroidal neovascularization (CNV), is a hallmark of the neovascular (wet) form of adv

122 rophy (GA) and choroidal neovascularization (CNV).

123 tachments and choroidal neovascularizations (CNVs).

124 of carriers of another 41 neurodevelopmental CNVs (n = 484).

125 Adult carriers of neurodevelopmental CNVs from the general population have significant cognit

126 of the group of 41 other neurodevelopmental CNVs had impaired performance on the cognitive tests, wi

127 Here we present SeqCNV, a novel CNV calling method designed to use capture NGS data.

128 ols and no difference in the rate of de novo CNV development in eyes with or without VMA.

129 ed mutations (6/63 solved cases) and de novo CNVs (4/63 solved cases).

130 Parental testing revealed de novo CNVs in 11 (47.8%), with CNVs inherited from a parent in

131 r of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set

132 on (PCR) is a traditional approach to obtain CNV breakpoint junction, but this method is inefficient

133 vascularization (CNV) than those with occult CNV (P < 0.001).

134 Areas of CNV showed photoreceptor degeneration, multilayered RPE,

135 an be directly used to detect association of CNV with the phenotypes of interest.

136 Therefore, adaptive cases of CNV can facilitate the accumulation of point mutations s

137 me-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes.

138 of patients with AMD for early detection of CNV vs usual care.

139 han a causative factor in the development of CNV.

140 A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11

141 ch reflected the orientation of expansion of CNV.

142 ogether correlated with greater frequency of CNV doubling (OR = 15, P = .0048).

143 ith cross-sectional OCTA for the presence of CNV.

144 end was found showing a higher prevalence of CNV in Northern Europe.

145 Furthermore, quantification of CNV in individual cells reveals remarkable allele select

146 significant difference regarding the rate of CNV development in the presence or absence of VMA (P = 0

147 st-effective among patients with low risk of CNV, including those with no or few risk factors.

148 Little is known about the role of CNV in adults with epilepsy and intellectual disability.

149 d our results provide evidence for a role of CNV in host responses to malaria.

150 The sensitivity and specificity of CNV detection compared to the gold standard of fluoresce

151 Genome-wide analysis of CNVs revealed that a single copy of the mdr1 gene on chr

152 alysis of further phenotypic consequences of CNVs.

153 However, effective detection of CNVs from targeted capture sequencing data remains chall

154 t strategies to evaluate the distribution of CNVs in the T2D and non-T2D samples: 1) Burden analysis,

155 es: 1) Burden analysis, 2) Identification of CNVs in loci previously associated to T2D, and 3) Identi

156 associated to T2D, and 3) Identification of CNVs observed only in the T2D group.

157 on anthropometric traits, yet the impact of CNVs has remained largely unknown.

158 ainty as to the breakpoints and magnitude of CNVs present in an individual when it identifies CNVs di

159 Pathogenicity of CNVs was assessed based on the American College of Medic

160 largest study on the cognitive phenotypes of CNVs to date.

161 mosomal genes, highlighting the potential of CNVs analysis to substantially increase the diagnostic y

162 ctive loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

163 g to the need to determine the prevalence of CNVs in desmosomal genes and to evaluate disease penetra

164 versity and population-genetic properties of CNVs and their diverse selection patterns, we performed

165 ion of CNVs, and also a higher proportion of CNVs overlapping at least one gene than the non T2D grou

166 the T2D group showed a higher proportion of CNVs, and also a higher proportion of CNVs overlapping a

167 Patchy, diffuse, or CNV-related atrophy was more common in eyes with RPE hum

168 y HMZDelFinder and not by any of seven other CNV detection tools examined.

169 Compared with other CNV-calling methods, SeqCNV shows a significant improvem

170 79], p = 1.2 x 10(-3)) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 x 10(-5)).

171 esented with pathogenic or likely pathogenic CNVs (0.08-18.9 Mb).

172 To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in p

173 those, 7 accounted for 17-50% of pathogenic CNVs in different disease cohorts where 7.1-11% of the m

174 The high prevalence of pathogenic CNVs in this study highlights the importance of microarr

175 Association of pediatric CNV occurrence at the temporal margin of retinochoroidal

176 Across all platforms, CNV was detected in approximately 10% of mosquitoes, cor

177 ed for developing more efficient and precise CNV detection methods.

178 Recurrent de novo or case-private CNVs were found at 15q11-13, Xp22.3, 15q13.1-13.2, 3p26.

179 Quiescent CNV appeared as an ill-defined hyperfluorescent lesion w

180 On ICGA, quiescent CNV appeared as a distinct area of hyperfluorescence (va

181 At last follow-up, 92% of the quiescent CNV seemed to cover the area spared from atrophy.

182 ment epithelium at the site of the quiescent CNV visualized by structural OCT.

183 Patients diagnosed with quiescent CNV were analyzed in 2 high-volume referral centers.

184 The characteristics of the quiescent CNVs were very similar to those already described for in

185 Rare CNVs were found in <1.5% of brains, including copy numbe

186 Rare CNVs with >/= 100 kb length were identified using a stri

187 We identified 32 rare CNVs larger than 1 Mb in 31 patients.

188 The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and

189 The results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion r

190 rs assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevan

191 alysis of structural variation and find rare CNVs associated with height, weight and BMI with large e

192 The present study characterized large rare CNVs in 686 T2D and 194 non-T2D subjects of Mexican ance

193 Eight nonrecurrent rare CNVs that overlapped 1 or more genes associated with int

194 in 9.6% of them, and was the only recurrent CNV in constitutional DNA samples.

195 rays, as we find that H3K56ac also regulates CNV in 3 copy arrays of CUP1 or SFA1 genes.

196 Our findings identify ASD-related CNVs in a Chinese population and implicate novel ASD ris

197 ent molecular consequences of the respective CNVs.

198 One possibility is that schizophrenia risk CNVs impact basic associative learning processes, abnorm

199 Here we present a large-scale CNV association meta-analysis on anthropometric traits i

200 o investigate whether genes in schizophrenia CNVs impact on specific phases of associative learning w

201 We also identified several CNVs that include known ASD genes (SHANK3, CDH10, CSMD1)

202 d created 10 artificial samples with several CNVs spread along all chromosomes.

203 ng NGS data, there are few tools for somatic CNV detection for WES data in cancer.

204 exity makes the detection of cancer specific CNVs even more difficult.

205 te whether inducible promoters can stimulate CNV to yield reproducible, environment-specific genetic

206 ate at which specific environments stimulate CNV.

207 Stimulated CNV is not limited to high-copy CUP1 repeat arrays, as w

208 Stimulated CNV therefore represents an unanticipated and remarkably

209 ral mechanism for environmentally-stimulated CNV and validate this mechanism for the emergence of cop

210 dividual cells, we directly demonstrate that CNV of the copper-resistance gene CUP1 is stimulated by

211 g virus populations, including evidence that CNV facilitates the accumulation of a point mutation dis

212 We show that CNVs from cases are enriched for genes expressed during

213 These results suggest that CNVs act to impair inhibitory learning in schizophrenia,

214 atin in male germ cells, which suggests that CNVs may repress recombination by altering chromatin str

215 The CNV lesions exhibit a varied degree of response to treat

216 ow that population genetic divergence at the CNV loci is generally more than three times lower than a

217 out one third of family members carrying the CNV, underlying the role of other factors in the develop

218 other members of the Tombusvirus genus, the CNV capsid swells when exposed to alkaline pH and EDTA.

219 In the CNV burden analysis, the T2D group showed a higher propo

220 We propose that a defect in the CNV formation process is responsible for the "CNV-mutato

221 ation matrix is generated by integrating the CNV data and somatic mutation data, and a mutation netwo

222 ypothesis that LAT dosage is relevant to the CNV pathology, we observed similar effects upon overexpr

223 As with many spherical plant viruses, the CNV capsid swells when exposed to alkaline pH and EDTA.

224 The CNVs can be identified by array-based comparative genomi

225 NV formation process is responsible for the "CNV-mutator state," and this state is dampened after ear

226 These CNVs originate from independent formation incidences, ar

227 These CNVs were validated by array comparative genomic hybridi

228 roximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contribu

229 The mechanism through which these CNVs confer risk for the symptoms of schizophrenia, howe

230 ular diagnosis solved rate was attributed to CNVs.

231 Our data suggest that transient CNV can accelerate the fixation of mutations conferring

232 These transient CNVs produce stoichiometric effects on gene expression b

233 othelium of the eye is sufficient to trigger CNV formation.

234 These two CNV-prone regions at 16p11.2 are reciprocally engaged in

235 These two CNVs are engaged in complex reciprocal chromatin looping

236 o-electron microscopy structure of wild-type CNV in the native and swollen state and of the transmiss

237 nd highlights their importance in uncovering CNV mutagenesis and pathogenesis in genomic disorders.

238 Eleven eyes (27%) underwent CNV doubling, 19 eyes (46%) illustrated modest growth, a

239 Notably, unexpected CNV complexities, including inter-chromosomal rearrangem

240 itoring of patients with existing unilateral CNV or multiple bilateral risk factors for CNV (large dr

241 ormance of the most recent and commonly used CNV detection tools for WES data in cancer to address th

242 Copy-number-variable (CNV) loci differ from single nucleotide polymorphic (SNP

243 ts called by FreeBayes; copy number variant (CNV) analysis (Illumina HumanOmniExpress-12 BeadChip); C

244 uencing, we performed a copy number variant (CNV) analysis to screen for duplications or deletions.

245 We also identified copy-number variant (CNV) eQTLs, including some that appear to affect gene ex

246 Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosoma

247 trongly associated with copy-number variant (CNV) regions, especially multi-allelic clusters, identif

248 in neurodevelopmental copy number variants (CNVs) (P<2.2 x 10(-10)), suggesting that pathogenic vari

249 ociations between rare copy number variants (CNVs) and complex continuous human traits.

250 Copy number variants (CNVs) are major contributors to genomic imbalance disord

251 Copy number variants (CNVs) have been strongly implicated in the genetic etiol

252 ased burden of genomic copy number variants (CNVs) in schizophrenia cases compared with controls.

253 Copy-number variants (CNVs) of chromosome 15q13.3 manifest clinically as neuro

254 of neurodevelopmental copy number variants (CNVs) on the cognitive performance of participants.

255 The effect of Copy Number Variants (CNVs) on Type 2 Diabetes (T2D) remains little explored.

256 We show that copy number variants (CNVs) show a variety of genetic signals consistent with

257 ent a method to detect copy number variants (CNVs) that are differentially present between two groups

258 ty of rare, multigenic copy-number variants (CNVs) that have been observed in patients.

259 rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data.

260 NVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are de novo mutations (DN

261 arrangements including copy number variants (CNVs).

262 studies indicate that copy number variation (CNV) alters genes involved in tumor progression; however

263 eles, exome array and copy-number variation (CNV) analyses.

264 ed by the presence of copy number variation (CNV) at the K3L locus, which in multiple copies strongly

265 also found that gene copy number variation (CNV) can provide dual benefits to evolving virus populat

266 phasis on genome-wide copy number variation (CNV) data, as well as the ability to process quantitativ

267 ed by low accuracy of copy-number variation (CNV) detection and low amplification fidelity.

268 Gene copy number variation (CNV) has been shown to be associated with phenotypes of

269 Recently copy number variation (CNV) has gained considerable interest as a type of genom

270 Copy number variation (CNV) is an important cause of neuropsychiatric disorders

271 Copy number variation (CNV) is rife in eukaryotic genomes and has been implicat

272 In some species copy number variation (CNV) of target site loci (e.g. the Ace-1 target site of

273 Chromosomal copy number variation (CNV) refers to a polymorphism that a DNA segment present

274 hed methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rar

275 ad, neoantigen load, copy number variations (CNV), gene- or pathway-level somatic mutations, or germl

276 60 samples show that copy number variations (CNVs) and alterations in DNA methylation contribute to t

277 Copy number variations (CNVs) are defined as deletions, insertions, and duplicat

278 Shank mutations and copy number variations (CNVs) are linked to several psychiatric disorders, and t

279 Copy number variations (CNVs) contribute significantly to human genomic variabil

280 Copy number variations (CNVs) have recently been linked to AC pointing to the ne

281 highly possible that copy number variations (CNVs) in susceptible regions have effects on chronic obs

282 the most common gene copy number variations (CNVs) known to confer risk for intellectual disability (

283 ecurrent chromosomal copy number variations (CNVs) of autosomes in male subjects, whereas somatic los

284 Copy number variations (CNVs) often include noncoding sequences and putative enh

285 fects of human Shank copy number variations (CNVs) on Autism spectrum disorders and schizophrenia.

286 phisms (SNPs) and 43 copy number variations (CNVs) with in-vitro piperaquine 50% inhibitory concentra

287 Cucumber necrosis virus (CNV) is a member of the genus Tombusvirus and has a mono

288 nsmission.IMPORTANCECucumber necrosis virus (CNV), a member of the genus Tombusvirus, is transmitted

289 and 16 416 controls, we investigated whether CNVs from patients with schizophrenia are enriched for g

290 man disorders, particularly cancer, in which CNV promotes both tumorigenesis and chemotherapy resista

291 lection patterns, we performed a genome-wide CNV analysis using high density SNP array in Chinese nat

292 e proposed methods, we performed genome-wide CNV association analyses of hematological trait, hematoc

293 uilibria (LDs) occur between the genome-wide CNV loci.

294 ive review of children <16 years of age with CNV and retinochoroidal and optic nerve coloboma from 19

295 P = .015) were significantly associated with CNV doubling.

296 Of 32 eyes with CNV, both graders identified 26 true positives with en f

297 term effects of telemonitoring patients with CNV in one eye or large drusen and/or pigment abnormalit

298 eyes and fewer >/=80-year-old subjects with CNV were visually impaired (P = 0.016).

299 ng revealed de novo CNVs in 11 (47.8%), with CNVs inherited from a parent in 4 probands (17.4%).

300 A gene-set analysis including genes with CNVs observed only in the T2D group highlighted gene-set