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 considerable presence/absence variation and copy number variation.

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

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

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

6 next-generation sequencing and whole-genome copy number variation.

7 iation at the GDF2 and BMP10 loci, including copy number variation.

8 performed more consistently, indicating less copy number variation.

9 of Cyp12d1 which is also affected in cis by copy number variation.

10 are significantly correlated with their gene copy number variations.

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

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

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

14 ther genome rearrangements and extended gene copy number variations.

15 g rare genomic events leading to HL, such as copy number variations.

16 e, there was no evidence of chromosome-level copy number variations.

17 may explain the pathogenic nature of S-SCAM copy number variations.

18 luding mutations, structural variations, and copy number variations.

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

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

21 supported by other genomic features, such as copy number variation, absence/introgressions of CDSs an

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

23 e structural rearrangements underlying RBMY1 copy number variation across diverse human lineages.

24 These results show that gene copy number variation affect the parasite's ability to e

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

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

27 oci to detect mutations, translocations, and copy number variations, along with histomorphological an

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

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

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

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

32 Copy number variation analysis (CNV) was performed using

33 Copy number variation analysis highlighted minor aberrat

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

35 Mutational and copy number variation analysis of a large cohort of pati

36 t assessed by next-generation sequencing and copy number variation analysis, 3 molecular subtypes wit

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

38 Genomic copy-number variation analysis independently confirmed t

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

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

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

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

43 ically available, including gene expression, copy number variation and genomic mutations.

44 with other tumor characteristics, including copy number variation and immune-related gene expression

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

46 olution by allowing rapid and extensive gene copy number variation and is implicated in the pathology

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

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

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

50 zed clinical trials were screened for pfmdr1 copy number variation and pfcrt, pfmdr1, pfdhfr, and pfd

51 ncer samples and cell lines from large mRNA, copy number variation and ribosome profiling datasets.

52 UBE3A gene copy number variation and the resulting overexpression o

53 scribe a computational method HiNT (Hi-C for copy Number variation and Translocation detection), whic

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

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

56 and Translocation detection), which detects copy number variations and interchromosomal translocatio

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

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

59 types of data, including mRNA, methylation, copy number variations and somatic mutations, are merged

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

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

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

63 Here, we characterize the landscape of copy-number variation and their phenome-wide effects in

64 ic cells is revealed by analyses of inferred copy-number variation and trajectory.

65 pression data, with optional corrections for copy-number variations and able to run on signatures gen

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

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

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

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

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

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

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

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

74 luding the disease-related gene expressions, copy number variations, and their associations, which di

75 e nucleotide variants, insertions/deletions, copy number variations, and translocations at a single t

76 Copy number variations are important in the detection an

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

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

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

80 alized portrait of population-wide burden of copy-number variation, as well as a series of dosage-med

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

82 ogenic mutations, whole genome mutations and copy number variations between primary and metastatic tu

83 D4 T cell and monocyte infiltration and high copy number variation burden.

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

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

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

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

88 apacity, revealing a mechanism by which gene copy number variation can modulate the host immune respo

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

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

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

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

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

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

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

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

97 Genome rearrangements resulting in copy number variation (CNV) and loss of heterozygosity (

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

99 Chromosomal rearrangements and gene copy number variation (CNV) are two important tools for

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

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

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

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

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

105 Gene copy number variation (CNV) could be detected in these p

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

107 ability of somatic point mutation (SPM) and copy number variation (CNV) data, gene-level and pathway

108 Cancer associated copy number variation (CNV) events provide important inf

109 A HP gene copy number variation (CNV) generates HP1 and HP2 allele

110 Copy number variation (CNV) has been examined in many sp

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

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

113 GA) data for mRNA expression, mutations, and copy number variation (CNV) in 20 categories and 45 subt

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

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

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

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

118 Copy number variation (CNV) is a major type of structura

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

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

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 Intersecting these results with copy number variation (CNV) morbidity data shows an enri

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

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 Accurate interpretation of genomic copy number variation (CNV) remains a challenge and has

130 Copy number variation (CNV) represents a major source of

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

132 Copy number variation (CNV) was more frequent in recurre

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

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

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

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

137 Genome amplifications, a type of DNA copy number variation (CNV), facilitate overexpression o

138 n the HP gene (encoding haptoglobin) exhibit copy number variation (CNV), giving rise to HP1 and HP2

139 ciated with genome rearrangements, including copy number variation (CNV), in many diverse isolates of

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

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

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

143 y number analysis of tumors (ASCAT) assesses copy number variations (CNV) while accounting for aberra

144 Some copy number variations (CNV), associated with novel subt

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

146 e highly sensitive and accurate in detecting copy number variations (CNV).

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

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

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

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

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

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

153 g (DPC), by insertion sequence (IS)-mediated copy number variations (CNVs) and balanced the metabolic

154 urodevelopmental disorders caused by genomic copy number variations (CNVs) and gene expression data f

155 nables simultaneous detection of whole-exome copy number variations (CNVs) and point mutations in cod

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

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 e association studies (GWAS) have identified copy number variations (CNVs) at chromosomal locus 7q36.

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 Copy number variations (CNVs) greatly contribute to intr

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

168 Copy number variations (CNVs) have recently been linked

169 Here, we searched for de novo copy number variations (CNVs) in a cohort of 167 CHD pat

170 most widely used platform to assess somatic copy number variations (CNVs) in cancer studies.

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

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

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

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

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

176 functional effects of somatic mutations and copy number variations (CNVs) not evident in transcripto

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

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

179 Copy number variations (CNVs) of the human 16p11.2 genet

180 Copy number variations (CNVs) often include noncoding se

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

182 22q11.2 deletions and duplications are copy number variations (CNVs) that predispose to develop

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

184 karyotyping analysis, none of the predicted copy number variations (CNVs) were identified, which con

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

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

187 cleotide variations (SNVs) to large, complex copy number variations (CNVs), have been reported in pat

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

189 tory genes (SRGs) uncovers prevalent genomic copy number variations (CNVs), leading to mis-expression

190 ber aberrations (CNAs), which are pathogenic copy number variations (CNVs), play an important role in

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

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

193 e generated from 13 individuals with 16p11.2 copy number variations (CNVs).

194 ic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by ch

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

196 Copy-number variations (CNVs) represent a significant pr

197 including simple nucleotide variants (SNVs), copy-number variations (CNVs), and structural variations

198 s), small insertions and deletions (indels), copy-number variations (CNVs), loss of heterozygosity (L

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

200 vertical integration of gene expression and copy number variation data are conducted.

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

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

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

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

205 omic hybridization were performed to confirm copy number variations detected by NGS.

206 Integration of multiple genetic sources for copy number variation detection (CNV) is a powerful appr

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

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

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

210 1-13 comprises a complex region, and as this copy number variation encompasses many genes, it is impo

211 Copy number variations encompassing the gene encoding Cy

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

213 nvolution of subclones that have independent copy number variation events within the same chromosome

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

215 al different types of genomic data including copy number variation from scDNA-Seq and gene expression

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

217 Copy number variations have been frequently associated w

218 del on a screening and ranking algorithm for copy number variation identification which presented des

219 We report RAD23B copy number variation in 10% (12/119, P <= 0.01) of SS p

220 6p11.2 microdeletion is the most common gene copy number variation in autism, but the synaptic pathop

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

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

223 Analysing the DNA copy number variation in hypomethylated Arabidopsis line

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

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

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

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

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

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

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

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

232 Structural and copy number variations in cancer genomes can be determin

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

234 Copy number variations in the complement factor H-relate

235 nalysis, enabling inference of deletions and copy number variations in the entire population.

236 Sequence and copy number variations in the human CFHR-Factor H gene c

237 The copy number variations in the subsequent tumor biopsies

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

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

240 erived cells with NF1 mutations also carried copy-number variations in CDKN2C, PTEN, and REL genes.

241 Gene copy number variation is a predominant mechanism used by

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

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

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

245 ssion during neuronal lineage induction with copy number variation morbidity maps of a cohort of chil

246 ngs demonstrate a mechanism by which smaller copy number variations, not including the Pmp22 gene, ar

247 Copy number variation of defensin genes was examined in

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

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

250 Here, we demonstrate that copy number variation of TdDof, a gene encoding a putati

251 of this study is to evaluate expression and copy number variation of the ADAR gene in advanced GC an

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

253 Copy number variation of the peripheral nerve myelin gen

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

255 Copy number variation of the target loci may be another

256 3A/E6AP-dependent ASD.SIGNIFICANCE STATEMENT Copy number variation of the UBE3A gene and aberrant ove

257 We have previously shown that copy number variations of 16p11.2 impact regional brain

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

259 gen match the phenotypic pattern and include copy number variations of a toxin-encoding plasmid, and

260 Copy number variations of human chromosomal region 16p11

261 Third, we find a region containing copy number variations of the Kunitz trypsin inhibitor (

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

263 Here, by extracting information on copy-number variation of tandem and interspersed repetit

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

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

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

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

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

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

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

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

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

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

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

275 Copy number variation revealed gains and losses, includi

276 analysis using global miRNA and chromosomal copy number variations revealed a common developmental t

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

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

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

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

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

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

283 The authors combined data from 11 published copy number variation studies in 6,176 individuals with

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

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

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

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

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

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

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

291 n parallel with technology, from analyses of copy number variation to whole-exome sequencing (WES) an

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

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

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

295 Copy number variation was rampant with between 16 098 an

296 ADAR gene expression and copy number variation were measured by real-time PCR and

297 No TBK1 copy number variations were detected in 1045 Australian

298 3, and ATM SNVs), and MYC (translocations or copy number variations) were all independent risk factor

299 e human 16p11.2 gene locus is a hot spot for copy number variations, which predispose carriers to a r

300 mediate recurrent pathogenic 600 kbp BP4-BP5 copy-number variations, which are among the most common