ライフサイエンスコーパス: copy number variation

1 tein expression, pathway gene expression and copy number variation).

2 driver mutations, mutational processes, and copy number variation.

3 s compared to single nucleotide variation or copy number variation.

4 xplained by the transmission of a large rare copy number variation.

5 nd they are often too short to be considered copy number variation.

6 provides a valuable model in which to study copy number variation.

7 considerable presence/absence variation and copy number variation.

8 ologous recombination leads to FCGR2C/FCGR3B copy-number variation.

9 neuro-cardio-facial cutaneous syndromes and copy number variations.

10 are significantly correlated with their gene copy number variations.

11 ther genome rearrangements and extended gene copy number variations.

12 consisting of broad genomic domains such as copy number variations.

13 ells contained comparable numbers of de novo copy number variations.

14 lymorphisms (SNPs), 551,240 indels and 7,063 copy number variations.

15 insertions and deletions, in particular gene copy number variations.

16 Ps and nine regions of the genome with large copy number variations.

17 les, 215 genes spanning rare and replication copy number variations, 99 genes overlapping with linkag

18 usion of pathogenic coding, splice-site, and copy-number variations, a parallel approach using target

19 Here, we survey mtDNA copy number variation across 22 tumor types profiled by

20 ybridization also identified recurrent focal copy number variations affecting genes not previously li

21 alization and interpretation of sequence and copy-number variation against informative datasets of pa

22 y, WES was not reliable for the detection of copy-number variations, almost all of which extended bey

23 These paralogues exhibit sequence and copy number variation among different host-specific stra

24 related pseudogenes CYP2D7 and CYP2D8, high copy number variation among individuals and short read l

25 applied to studies of gene amplification and copy number variation among species and cultivars.

26 ading frames (ORFs) that showed syntenic and copy number variation among species, but were conserved

27 evaluated the GC-bias, reproducibility, and copy number variations among individual neurons.

28 indels), perform SNP annotations and conduct copy number variation analyses on multiple resequencing

29 Copy number variation analysis (CNV) was performed using

30 We performed a genome-wide copy number variation analysis of 343 ASD trios, 203 pat

31 Sanger fill-in of low-coverage exons, copy number variation analysis, and thorough in-house va

32 Genomic copy-number variation analysis independently confirmed t

33 anslocations are a relatively common type of copy number variation and a major contributor to neurode

34 Most recently, gene copy number variation and autoimmunity have been associa

35 sponding region in horse shows extraordinary copy number variation and different relative location an

36 Here, we analyzed the mutation, copy number variation and gene expression patterns of a

37 isease and its risk factors, as well as with copy number variation and gene expression, in the Framin

38 p of single nucleotide polymorphisms (SNPs), copy number variation and insertions and deletions (inde

39 and secretion is affected by epistatic gene copy number variation and it is predictive of patient su

40 We have investigated the alpha-tryptase gene copy number variation and its potential associations wit

41 logy had similar histology, growth kinetics, copy number variation and mutational load as assessed by

42 The resulting DNA copy number variation and patterns of chromosome loss an

43 Genome structure variation, including copy number variation and presence/absence variation, co

44 UBE3A gene copy number variation and the resulting overexpression o

45 se males were previously tested negative for copy number variations and for mutations in a subset of

46 strated by jointly analyzing gene expression/copy number variations and gene expression/methylation d

47 TERT promoter can also be affected by copy number variations and hepatitis B DNA insertions, a

48 sensing, the scaling in cancer of chromosome copy number variations and other mutations with tissue s

49 e rapidly expanded the diverse collection of copy number variations and single gene mutations associa

50 ciation studies have shown a pattern of rare copy number variations and single nucleotide polymorphis

51 nal platform that integrates the analysis of copy number variations and somatic mutations and unravel

52 d by false positive and lineage-differential copy number variations and will increase the accuracy of

53 ould be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities,

54 loss of heterozygosity, elevated genome-wide copy-number variation and a moderate microsatellite inst

55 tively corrects allele-specific analysis for copy-number variation and increases the power to detect

56 point- and indel-mutation variations, mapped copy-number variations and loss of heterozygosity region

57 ding single-nucleotide polymorphisms (SNPs), copy-number variations and loss-of-heterozygosity (LOH)

58 e specific gene-drug interactions using CNV (Copy Number Variation) and clinical data from the TCGA (

59 hown that genomic changes such as mutations, copy number variation, and genomic rearrangements drive

60 assesses gene expression, somatic mutation, copy number variation, and methylation, we for the first

61 modification patterns on chromatin, genomic copy number variation, and nucleosome positioning have b

62 athways, compounds, quantitative proteomics, copy number variation, and polysomal transcriptomics.

63 ts, including serial dilution, evaluation of copy number variation, and quantification of gene expres

64 eristics such as gene expression, mutations, copy number variations, and epigenetic alterations.

65 (e.g., RNA and miRNA), DNA methylation, DNA copy number variations, and summarized data.

66 Cd hyperaccumulation in N. caerulescens and copy number variation appears to be the main reason for

67 Copy number variations are important in the detection an

68 sorder with a strong genetic influence where copy number variations are suggested to play a role in d

69 s) such as transposon element insertions and copy number variations are ubiquitous in the human genom

70 Although PDL copy-number variations are well characterized, a detaile

71 es has implicated the role of aneuploidy and copy-number variation as significant predictors of aggre

72 n of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes se

73 (discovery P = 0.0002) for a role of complex copy number variation at a previously reported lung func

74 te estimation of variant allele fraction and copy number variation.Availability and implementation: A

75 No aspect of rare copy number variation burden was a predictor of decrease

76 explained more YOE variance than pathogenic copy number variation but less than common variants.

77 gy, particle and cell tracking, detection of copy number variation by sequencing, tethered-particle m

78 quences by Illumina paired-reads sequencing, copy number variations by qPCR, RNA concentrations by qR

79 Although several tools for copy-number variation calling in whole genome sequencing

80 to identify significant batch effects in two copy number variation case studies.

81 ived using gPCA to simulated data and to two copy number variation case studies: the first study cons

82 Copy-number variations cause genomic disorders.

83 edict the complex patterns of aneuploidy and copy number variation characteristic of cancer genomes.

84 on was evident in the form of polymorphisms, copy number variations, chromosomal inversions, subtelom

85 t enzyme in this pathway, exhibits extensive copy number variation (CN) in parasite isolates from are

86 e in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple

87 Copy number variation (CNV) affecting protein-coding gen

88 Oncogenomic studies indicate that copy number variation (CNV) alters genes involved in tum

89 found on the linked haplotype, we performed copy number variation (CNV) analysis by comparing the co

90 Copy number variation (CNV) analysis has become one of t

91 We performed whole-genome sequencing and copy number variation (CNV) analysis of 100 pancreatic d

92 We report here genomic copy number variation (CNV) analysis of 98 individuals w

93 Copy number variation (CNV) analysis of human HCC reveal

94 rect homologous repeats can generate genomic copy number variation (CNV) and make significant contrib

95 We performed SNP and copy number variation (CNV) association analyses in 1,50

96 ) associated with type-2 diabetes (T2D), but copy number variation (CNV) association has rarely been

97 le-genome sequencing data allow detection of copy number variation (CNV) at high resolution.

98 ntribution of classical HLA alleles and gene copy number variation (CNV) at the hypervariable DRB loc

99 iant could be accelerated by the presence of copy number variation (CNV) at the K3L locus, which in m

100 A number of copy number variation (CNV) calling algorithms exist; ho

101 Genomic copy number variation (CNV) can influence susceptibility

102 We also found that gene copy number variation (CNV) can provide dual benefits to

103 Copy number variation (CNV) contributes to disease and h

104 This observation is strengthened by the copy number variation (CNV) data of the HapMap samples w

105 tures, with specific emphasis on genome-wide copy number variation (CNV) data, as well as the ability

106 rphism (SNP), insertion/deletion (INDEL) and copy number variation (CNV) discovery in a single assay.

107 Recently, genomic copy number variation (CNV) has been implicated in cases

108 Copy number variation (CNV) has been revealed as a signi

109 Gene copy number variation (CNV) has been shown to be associa

110 Recently copy number variation (CNV) has gained considerable inte

111 ed single-cell genomic approaches to map DNA copy number variation (CNV) in neurons obtained from hum

112 d DNA-seq data to control technical bias and copy number variation (CNV) in putative cis-regulated AS

113 Copy number variation (CNV) in the human genome is of vi

114 e encephalomyelitis (EAE) is associated with copy number variation (CNV) in Y chromosome multicopy ge

115 Copy number variation (CNV) is a burgeoning kind of vari

116 A copy number variation (CNV) is a difference between geno

117 Copy number variation (CNV) is a type of structural vari

118 Copy number variation (CNV) is an important cause of neu

119 Copy number variation (CNV) is an important determinant

120 Copy number variation (CNV) is an important structural v

121 Copy number variation (CNV) is an important type of geno

122 Copy number variation (CNV) is implicated in important t

123 Copy number variation (CNV) is known to play an importan

124 Copy number variation (CNV) is rife in eukaryotic genome

125 In some species copy number variation (CNV) of target site loci (e.g. th

126 we performed a double-validated analysis of copy number variation (CNV) on 10 biological replicates

127 Chromosomal copy number variation (CNV) refers to a polymorphism tha

128 297,245 non-synonymous SNPs and 3330 copy number variation (CNV) regions were identified from

129 Analysis of copy number variation (CNV) shows that distinct CNV sub-

130 e variant of choice for population genetics, copy number variation (CNV) which comprises insertion, d

131 In this study we show that multiallelic copy number variation (CNV) within DMBT1 is extensive ac

132 , single nucleotide polymorphisms (SNP), and copy number variation (CNV)) has greatly enhanced our un

133 man salivary amylase genes display extensive copy number variation (CNV), and recent work has implica

134 This is feasible in the case of copy number variation (CNV), because CNV determination r

135 y platform and established methods to assess copy number variation (CNV), the authors compared the ge

136 The UGT2B17 gene shows a remarkable copy number variation (CNV), which predisposes for solid

137 Two patients carried a de novo copy number variation (CNV).

138 ion that could be mined to detect intergenic copy number variation (CNV).

139 e has been a growing interest in the role of copy number variations (CNV) in genetic diseases.

140 provides a complete and unbiased overview of copy number variations (CNV) in individual cells.

141 neity, total mutation load, neoantigen load, copy number variations (CNV), gene- or pathway-level som

142 Despite the discovery of copy-number variation (CNV) across the genome nearly 10

143 ocyte antigen (HLA) alleles, exome array and copy-number variation (CNV) analyses.

144 Assessment of genetic copy-number variation (CNV) and tumour heterogeneity by

145 Copy-number variation (CNV) can directly affect the read

146 (WGA) methods are limited by low accuracy of copy-number variation (CNV) detection and low amplificat

147 (HTS) technologies promise to revolutionize copy-number variation (CNV) detection but present substa

148 thin a species has highlighted the fact that copy-number variation (CNV) is a substantial and underap

149 Rare copy-number variation (CNV) is an important source of ri

150 g the genomic and phenotypic consequences of copy-number variation (CNV) is essential to understandin

151 Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.

152 , we explored whether the recently described copy-number variation (CNV) of the gene SLC2A3-which enc

153 Finally, we found that copy-number variations (CNV) enriched in colon adenocarc

154 hed array data from the 60 samples show that copy number variations (CNVs) and alterations in DNA met

155 In particular, the role of copy number variations (CNVs) and polymorphisms of detox

156 have demonstrated the importance of de novo copy number variations (CNVs) and single-nucleotide vari

157 Copy number variations (CNVs) are defined as deletions,

158 Genomic regions with recurrent DNA copy number variations (CNVs) are generally believed to

159 Rare copy number variations (CNVs) are genetic alterations th

160 Shank mutations and copy number variations (CNVs) are linked to several psyc

161 Recent studies clearly demonstrate that copy number variations (CNVs) are widespread in our geno

162 Mounting evidence suggests that copy number variations (CNVs) can contribute to cancer s

163 ally acquired structure variations (SVs) and copy number variations (CNVs) can induce genetic changes

164 Copy number variations (CNVs) contribute significantly t

165 A total of 15 unique copy number variations (CNVs) greater than 100 kb were d

166 Over the last few years at least 11 copy number variations (CNVs) have been shown convincing

167 Copy number variations (CNVs) have recently been linked

168 ocus duplications remain the only pathogenic copy number variations (CNVs) identified to date in Alzh

169 lationship would permit the determination of copy number variations (CNVs) in genomic DNA using ICP-M

170 ave revealed a greater burden of large, rare copy number variations (CNVs) in SCZ cases and identifie

171 It is highly possible that copy number variations (CNVs) in susceptible regions hav

172 'missing heritability' might be explained by copy number variations (CNVs) in the human genome.

173 e of the most important somatic aberrations, copy number variations (CNVs) in tumor genomes is believ

174 microdeletion is among the most common gene copy number variations (CNVs) known to confer risk for i

175 quency for the somatic recurrent chromosomal copy number variations (CNVs) of autosomes in male subje

176 ia (SZ) is associated with individually rare copy number variations (CNVs) of diverse genes, often sp

177 Copy number variations (CNVs) often include noncoding se

178 , which parallels the effects of human Shank copy number variations (CNVs) on Autism spectrum disorde

179 ut no study investigated the contribution of copy number variations (CNVs) to food allergy on a genom

180 ingle-nucleotide polymorphisms (SNPs) and 43 copy number variations (CNVs) with in-vitro piperaquine

181 The association of copy number variations (CNVs), differing numbers of copi

182 s of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with au

183 Rare copy number variations (CNVs), such as chromosomal delet

184 fying disease-associated genes via detecting copy number variations (CNVs).

185 gle-nucleotide polymorphisms (SNPs) and rare copy number variations (CNVs).

186 ns, have also been utilized in detecting DNA copy number variations (CNVs).

187 nisms contribute to gene-specific pathogenic copy-number variations (CNVs) remains understudied.

188 P53 mutation carriers, causing increased DNA copy-number variations (CNVs) with successive generation

189 gross chromosomal rearrangements (GCRs) and copy-number variations (CNVs).

190 erized in terms of SNPs, chromosome and gene copy number variations, confirming that they are closely

191 on, DNA methylation, noncoding microRNA, and copy number variation data available from the Gene Expre

192 We included array-based copy number variation data from 9387 patients with Parki

193 reads from non-coding DNA revealed peculiar copy-number variations defining specific UM subtypes, wh

194 single nucleotide variants, 2 indels, and 1 copy number variation deletion.

195 Indeed, de novo copy number variations (deletion or duplication of a chr

196 Exome Sequencing is gaining popularity with copy number variations detection due to low cost and bet

197 MT promoter methylation status, and hallmark copy number variations (EGFR, PDGFRA, MDM4, and CDK4 amp

198 ast cancer risk locus containing an enhancer copy number variation (enCNV; deletion) located approxim

199 1-13 comprises a complex region, and as this copy number variation encompasses many genes, it is impo

200 Copy number variations encompassing the gene encoding Cy

201 stemic biases in variant allele fraction and copy number variation estimations.

202 rovides an evolutionary alternative for gene copy number variation.Eukaryotic cells rely on the ubiqu

203 riants in splice donor or acceptor sites, or copy number variation events were observed.

204 ased method for computational integration of copy number variation, expression, and mutation data fro

205 amplifications and asymmetrical patterns of copy number variation flanking breakpoints of translocat

206 d teosinte diversity panels, indicating that copy number variation for MATE1 is a rare, and quite lik

207 Inferred copy number variations from the single-cell RNA-seq data

208 e including single nucleotide polymorphisms, copy number variation, gene expression levels, DNA methy

209 Copy number variations have been frequently associated w

210 Large genomic copy number variations have been implicated as strong ri

211 Integrative analysis of SNVs and somatic copy number variations identified recurrently altered me

212 Copy number variation in asthma candidate genes was prev

213 6p11.2 microdeletion is the most common gene copy number variation in autism, but the synaptic pathop

214 e ability of episomes to persist with little copy number variation in cells.

215 itosis is likely to result in high levels of copy number variation in ciliates, as dividing daughter

216 Large-scale whole-genome studies of copy number variation in Han Chinese samples are still l

217 iation, and defensin genes exhibit extensive copy number variation in humans and in other species.

218 ceptibility to IAV segregates independent of copy number variation in multicopy ChrY gene families th

219 s and for quantitatively handling regions of copy number variation in other structurally varying and

220 Our findings show a role for copy number variation in the adaptation of maize to acid

221 e AH and identification of tumor-derived DNA copy number variation in the AH.

222 Somatic mutations and copy number variation in the ERBB family are frequent in

223 EMENT Probing naturally occurring reciprocal copy number variation in the genome may help us understa

224 reception, detoxification and digestion, and copy number variation in the two latter gene families, s

225 Our results highlight the extent of mtDNA copy number variation in tumors and point to related the

226 analyze the methylomes, transcriptomes, and copy number variations in 105 cases of neuroblastoma, co

227 sing genes derived from regions of recurrent copy number variations in CDH, expression profiles of th

228 We report the presence of TBK1 copy number variations in our Australian normal-tension

229 Copy number variations in the complement factor H-relate

230 The copy number variations in the subsequent tumor biopsies

231 We found no recurrent non-NF1 locus copy-number variation in PN.

232 ensive large-scale analysis of intra-species copy-number variation in the gut microbiome, introducing

233 rates of gene amplification, suggesting that copy-number variation is buffered at these genes.

234 No copy number variation (large deletions and insertions) w

235 Liu et al. now show that multiple smaller copy number variations may also arise in in-vivo-conceiv

236 Copy number variation of defensin genes was examined in

237 This is the first report of copy number variation of human tRNA genes.

238 Copy number variation of kilobase-scale genomic DNA segm

239 riability in gene expression indicating that copy number variation of MSR1s is a generic controller o

240 These data provide insights into copy number variation of multigene segments, using as th

241 d (ii) a genetic perturbation in the form of copy number variation of one of these genes, which mimic

242 ic loci with extensive nucleotide diversity, copy number variation of paralogous genes, and long repe

243 recombinant inbred line mapping population, copy number variation of the Al tolerance gene multidrug

244 Single nucleotide polymorphisms and copy number variation of the FCGR2/3 gene cluster were s

245 We screened additional patients for copy number variation of the putative regulatory element

246 Copy number variation of the target loci may be another

247 3A/E6AP-dependent ASD.SIGNIFICANCE STATEMENT Copy number variation of the UBE3A gene and aberrant ove

248 adigm to two disorders caused by symmetrical copy number variations of 7q11.23, which display a strik

249 Copy number variations of human chromosomal region 16p11

250 K2 is one of the genes in the 16p11.2 locus, copy number variations of which are associated with auti

251 ance our understanding of the effect of AMY1 copy number variation on metabolism, we compared the met

252 We examined the effect of KIR gene copy number variation on the education of human NK cells

253 we report the first observation of abundant copy number variations on neuropeptides and receptors, w

254 VEGAWES for accurate and robust detection of copy number variations on WES data.

255 tified lineage-specific genes and genes with copy number variation or large-effect mutations, some of

256 s have been developed using gene expression, copy number variation or point mutation data.

257 machinery that contributes to site-specific copy number variations or how CNVs fit into the chronolo

258 nt, which significantly outperformed the DNA copy-number variation or exome sequencing data (Tukey's

259 ses that adversely affect genotyping include copy-number-variation, paralogous sequences, library pre

260 cation events that potentially contribute to copy number variation, particularly relevant to carcinog

261 and 12.6 de novo insertions and deletions or copy number variations per ASD subject.

262 known functional UGT1A1*28 and UGT2B17 CNV (copy number variation) polymorphisms.

263 lt to establish in cancers where predominant copy number variation prevents accurate phylogenetic rec

264 megabase, there were a tremendous number of copy number variations producing the tumors' driver muta

265 orroborative pattern between the chromosomal copy number variation profiles of the AH cfDNA and tumor

266 latform, followed by genome-wide chromosomal copy number variation profiling to assess the presence o

267 exonic (i.e., within coding exon sequences), copy number variation remains elusive.

268 iation studies, few comprehensive studies of copy number variation's contribution to complex human di

269 9 paired ESCC cases, and analysis of somatic copy number variations (SCNV) of over 180 ESCCs.

270 DNA rearrangements may help explain the CTD copy number variation seen across eukaryotes, as well as

271 Further, the TBK1 copy number variation segregated with normal-tension gla

272 ndividuals with neuropsychiatric disease and copy-number variations spanning NUDT21, which encodes a

273 ), carry significantly more rare chromosomal copy number variations, spanning large genomic regions (

274 ), carry significantly more rare chromosomal copy number variations, spanning large genomic regions (

275 e been associated with autism in linkage and copy number variation studies [3-7], fewer GABA receptor

276 ly implicated by genome-wide association and copy-number variation studies.

277 In a previous small-scale copy number variation study of a GTS cohort (n = 111), r

278 er of genes affected by presence/absence and copy number variation suggest that it may contribute to

279 Modeling based on population-level copy-number variation supports the possibility that some

280 at embryonal tumors have more structural and copy number variations than alveolar tumors.

281 f the HP gene (encoding haptoglobin) exhibit copy number variation that affects HP protein structure

282 AMY1 and AMY2 show copy number variations that affect differences in amylas

283 ipt outlier data points with associated gene copy number variations that correlate with patient's sur

284 Our findings add a new locus to the list of copy number variations that increase the risk for develo

285 FLCs had few copy number variations; the most frequent were focal amp

286 ently mutated genes and 11 recurrent somatic copy number variations through whole-exome sequencing of

287 Copy number variations to chromosome 21 (HSA21) cause in

288 Based on copy number variation, transcript abundance, nucleic aci

289 ment and molecular characterization for rare copy number variations using high-resolution genome-wide

290 aucoma cases (1.2%) were found to carry TBK1 copy number variations using quantitative polymerase cha

291 d unaffected controls were screened for TBK1 copy number variations using real-time quantitative poly

292 Copy number variation was rampant with between 16 098 an

293 Additionally, somatic copy-number variation was found to play an important rol

294 Copy-number variation was highly prevalent between the s

295 samples, acquired LMTK3 gene amplification (copy number variation) was associated with relapse while

296 the genomic pathology associated with FCGR3B copy-number variation, we integrated sequencing data fro

297 No TBK1 copy number variations were detected in 1045 Australian

298 n S level < 1st percentile (< 4 6 U/dL), and copy number variations were investigated in 2718 subject

299 human chromosome 1q23.3 that shows extensive copy number variation with 9-43 repeat units per allele

300 ytometry seems largely to be due to 45S rDNA copy number variation, with lines from northern Sweden h