ライフサイエンスコーパス: copy number variant

1 existing multigene variants and suggests new copy number variants.

2 ons and deletions, short tandem repeats, and copy number variants.

3 es describing de novo germline mutations and copy number variants.

4 mosomal deletions and duplications, known as copy number variants.

5 , and 13 fall within loci recurrently hit by copy number variants.

6 enomic loci previously implicated by de novo copy number variants.

7 lyze duplicons starting from identified high-copy number variants.

8 database for previously identified 16p13.11 copy number variants.

9 was analysed using direct sequencing and for copy number variants.

10 flanking the breakpoint junctions of complex copy number variants.

11 ngle-cell libraries for detection of somatic copy-number variants.

12 are likely mediators of ASD across multiple copy-number variants.

13 eening may be attributable to large maternal copy-number variants.

14 n insertions and deletions, and 25,923 genic copy-number variants.

15 DNA repair also appears to create complex copy-number variants.

16 These null alleles include copy-number variants (12 instances of a 16p11.2 deletion

17 iduals with hypoplastic or bifid uvulae with copy number variants affecting FOXF2.

18 oncoding variants, rare coding variants, and copy-number variants affecting genes involved in enteric

19 Africa, we identify a diverse array of large copy-number variants affecting the host invasion recepto

20 cts on cortical surface area imply that this copy number variant affects brain structure early in the

21 mor and dating somatic single nucleotide and copy number variants along the tumor clonal evolution.

22 ress this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains

23 Copy number variant analysis was conducted on a random s

24 The association between copy number variant and rare variant burden measures and

25 protein-coding genes supported by both: (1) copy number variant and whole-exome sequencing data; and

26 cleotide polymorphisms (SNPs), 8173 putative copy number variants and 3336 presence/absence variants.

27 unted for the association between pathogenic copy number variants and cognitive impairment, which is

28 fitting the minor component are enriched for copy number variants and low complexity regions, which c

29 Rare structural genomic variants, such as copy number variants and point mutations, might also pla

30 Specific genetic causes, including certain copy number variants and single-gene mutations, are shar

31 erations including non-synonymous mutations, copy number variants and structural variants.

32 jority of the insulinomas display mutations, copy number variants and/or dysregulation of epigenetic

33 ncluding non-coding mutations, gene fusions, copy-number variants and drug-resistance mutations.

34 enic genes within frequent autism-associated copy-number variants and proposed genes and pathways tha

35 ited common single nucleotide polymorphisms, copy number variants, and rare single nucleotide variant

36 ort insertions or deletions (indels), larger copy number variants, and similarly sized copy neutral i

37 DNA sequence variants, large copy-number variants, and karyotype variants in probands

38 22q11.2 copy number variants are among the most highly penetrant

39 De novo genic and copy number variants are enriched in patients with conge

40 ifaceted approach to investigate why 15q11.2 copy number variants are prominent risk factors for schi

41 The predominance of large copy number variants as the major drivers for pRCC highl

42 Platypus) for finding single nucleotide and copy number variants as well as recombination events.

43 al instances of meiotic recombination within copy number variants associated with drug resistance, de

44 consistent with the emerging effects of rare copy number variants associated with intellectual disabi

45 egmental duplications overlap with recurrent copy number variants associated with neurocognitive diso

46 n polymorphisms that predispose to recurrent copy number variants associated with neurodevelopmental

47 participants carrying at least one of the 12 copy number variants associated with schizophrenia in UK

48 he genomes of 2312 children known to carry a copy-number variant associated with intellectual disabil

49 The most common recurrent copy-number variants associated with autism, development

50 e-learning algorithms, we identified de novo copy number variants at 15q25.2 and 15q11.2 as being ass

51 ent study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2,

52 Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer

53 Our results suggest that copy number variants at the PARK2 locus contribute to th

54 ith common variant genetic risk scores, rare copy-number variant burden, and rare exonic burden (n =

55 n be used in training and testing of somatic copy number variant calling tools.

56 de SNP polymorphism data with a novel set of copy number variant calls and gene expression profiles t

57 for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identifica

58 capture) with variants called by FreeBayes; copy number variant (CNV) analysis (Illumina HumanOmniEx

59 were not found by sequencing, we performed a copy number variant (CNV) analysis to screen for duplica

60 Copy number variant (CNV) analysis was performed on rena

61 ide single nucleotide polymorphism (SNP) and copy number variant (CNV) association studies of autism

62 Computational copy number variant (CNV) prediction pipelines and an ex

63 ontribution to cocaine dependence of a large copy number variant (CNV) that encompasses part of the N

64 A clue to the pathogenesis of the copy number variant (CNV)'s effect on the brain is that

65 y related genes can be disrupted by a single copy number variant (CNV).

66 This study sought to determine whether mGluR Copy Number Variants (CNV's) were overrepresented in chi

67 Current methods for detection of copy number variants (CNV) and aberrations (CNA) from ta

68 show that this improves detection of genomic copy number variants (CNV) in array CGH experiments comp

69 previously associated rare, exonic deletion copy number variants (CNV) with recurrent depressive dis

70 ion and performed whole-exome sequencing and copy-number variant (CNV) analysis of the tumors.

71 assessed the parent of origin of the 16p11.2 copy-number variant (CNV) and the presence of additional

72 XHMM is a widely used tool for copy-number variant (CNV) discovery from whole exome seq

73 7,XXY; 47,XYY; 45,X) that affect height; two copy-number variant (CNV) disorders (16p11.2 deletions a

74 We also identified copy-number variant (CNV) eQTLs, including some that app

75 For the majority of these families, no copy-number variant (CNV) or candidate de novo gene-disr

76 Coldspots are strongly associated with copy-number variant (CNV) regions, especially multi-alle

77 actions from these samples with whole-genome copy-number variant (CNV), whole-exome sequencing, and A

78 s both balanced rearrangements and arbitrary copy-number variants (CNV).

79 are under-represented in neurodevelopmental copy number variants (CNVs) (P<2.2 x 10(-10)), suggestin

80 o determine whether heterozygous carriers of copy number variants (CNVs) affecting exons of the PARK2

81 ies (GWAS) have identified common SNPs, rare copy number variants (CNVs) and a large polygenic contri

82 evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder

83 Both rare copy number variants (CNVs) and common single-nucleotide

84 examples of robust associations between rare copy number variants (CNVs) and complex continuous human

85 loci, but it is also evident from studies of copy number variants (CNVs) and from exome-sequencing st

86 Here we show that the frequency of de novo copy number variants (CNVs) and insertion/deletion event

87 DT classified 745 unique variants, including copy number variants (CNVs) and intronic variants, as pa

88 ndividuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively.

89 Germline copy number variants (CNVs) and somatic copy number alte

90 Common multi-allelic copy number variants (CNVs) appear enriched for phenotyp

91 Copy number variants (CNVs) are a class of structural va

92 Copy number variants (CNVs) are a major cause of several

93 Several copy number variants (CNVs) are associated with a high r

94 Copy number variants (CNVs) are associated with many neu

95 Some rare copy number variants (CNVs) are associated with schizoph

96 De novo sequence mutations and copy number variants (CNVs) are causative in a subset of

97 A number of large, rare copy number variants (CNVs) are deleterious for neurodev

98 phrenia have a strong genetic component, and copy number variants (CNVs) are firmly implicated.

99 Copy number variants (CNVs) are however understudied, be

100 Deleterious copy number variants (CNVs) are identified in up to 20%

101 Although copy number variants (CNVs) are important in genomic med

102 A small number of rare, recurrent genomic copy number variants (CNVs) are known to substantially i

103 Copy number variants (CNVs) are major contributors to ge

104 Copy number variants (CNVs) are pervasive in several ani

105 Copy number variants (CNVs) are risk factors in neurodev

106 Large copy number variants (CNVs) are strongly associated with

107 Copy number variants (CNVs) are subject to stronger sele

108 Copy number variants (CNVs) are suggested to have a wide

109 Copy number variants (CNVs) are the gain or loss of DNA

110 that droplet MDA allows for the detection of copy number variants (CNVs) as small as 30 kb in single

111 pocampus of three mouse lines modeling human copy number variants (CNVs) associated with schizophreni

112 per subject) than controls for genes within copy number variants (CNVs) associated with SZ or neurod

113 Copy number variants (CNVs) at chromosome 16p13.11 have

114 Large and rare copy number variants (CNVs) at several loci have been sh

115 Megabase-scale copy number variants (CNVs) can have profound phenotypic

116 16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism

117 However, which characteristics of copy number variants (CNVs) confer most epilepsy risk an

118 We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectru

119 (ADHD) is highly heritable, and large, rare copy number variants (CNVs) contribute to risk, little i

120 Copy number variants (CNVs) could contribute to the heri

121 Most disorders caused by copy number variants (CNVs) display significant clinical

122 exonic single-nucleotide variants (SNVs) and copy number variants (CNVs) from 2,377 families with aut

123 Several algorithms exist for detecting copy number variants (CNVs) from human exome sequencing

124 An increased rate of de novo copy number variants (CNVs) has been found in schizophre

125 th the general population, an excess of rare copy number variants (CNVs) has been identified in peopl

126 Carriers of large recurrent copy number variants (CNVs) have a higher risk of develo

127 Copy number variants (CNVs) have a major role in the eti

128 Specific copy number variants (CNVs) have been associated with su

129 Copy number variants (CNVs) have been implicated in a va

130 Large, rare copy number variants (CNVs) have been implicated in a va

131 Copy number variants (CNVs) have been proposed as a poss

132 Specific copy number variants (CNVs) have been robustly associate

133 At least 11 rare copy number variants (CNVs) have been shown to be major

134 arge (>100 kb), rare (<1% in the population) copy number variants (CNVs) have been shown to confer ri

135 Several recurrent copy number variants (CNVs) have been shown to increase

136 Copy number variants (CNVs) have been strongly implicate

137 A number of rare copy number variants (CNVs) have emerged as robust genet

138 The associations between diseases/traits and copy number variants (CNVs) have not been systematically

139 Recently discovered genome-wide rare copy number variants (CNVs) have unprecedented levels of

140 We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 co

141 A new study compares the copy number variants (CNVs) in 29,085 children with deve

142 We observed 437 copy number variants (CNVs) in 323 patients (1-4 per pat

143 We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD)

144 umerous studies documenting the relevance of copy number variants (CNVs) in ASD have been published s

145 ce of protein-truncating variants (PTVs) and copy number variants (CNVs) in genes/regions previously

146 We also identified copy number variants (CNVs) in monozygotic twin pairs di

147 that there is an increased burden of genomic copy number variants (CNVs) in schizophrenia cases compa

148 mmonly used in clinical practice to identify copy number variants (CNVs) in the human genome.

149 ysis of large (>500 kb), rare (<1%) germline copy number variants (CNVs) in two independent, multi-et

150 Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes

151 h many common alleles, while a role for rare copy number variants (CNVs) is less clear.

152 e nucleotide variants (SNVs), information on copy number variants (CNVs) is of great interest.

153 d up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD et

154 Copy number variants (CNVs) may play an important part i

155 licated numerous risk loci including several copy number variants (CNVs) of large effect and hundreds

156 Copy number variants (CNVs) of the chromosomal locus 16p

157 tematic studies have evaluated the impact of copy number variants (CNVs) on common diseases.

158 However, little is known about the effect of copy number variants (CNVs) on lung function, although C

159 to examine the effect of neurodevelopmental copy number variants (CNVs) on the cognitive performance

160 The effect of Copy Number Variants (CNVs) on Type 2 Diabetes (T2D) rem

161 Large, rare copy number variants (CNVs) play a role in other neurops

162 Copy number variants (CNVs) play an important role in th

163 Copy number variants (CNVs) resulting from genomic delet

164 We show that copy number variants (CNVs) show a variety of genetic si

165 Functional impact of copy number variants (CNVs) stems from both the proporti

166 We present a method to detect copy number variants (CNVs) that are differentially pres

167 large-scale genomic studies have identified copy number variants (CNVs) that confer high risk of sch

168 apability to efficiently generate reciprocal copy number variants (CNVs) that mimic NAHR would repres

169 a there would be an enrichment of other rare copy number variants (CNVs) that overlap miRNAs.

170 Copy number variants (CNVs) underlie a significant amoun

171 inferred SVs and large-scale allele-specific copy number variants (CNVs) using an ensemble of methods

172 A complex but consistent pattern of copy number variants (CNVs) was detected and many CNVs i

173 No large scale mosaic copy number variants (CNVs) were detectable in normal fe

174 including three carcinomas) had many somatic copy number variants (CNVs) with frequent deletion of CD

175 DFT1 gradually accumulates copy number variants (CNVs), and its telomere lengths ar

176 in the minimal region common to overlapping copy number variants (CNVs), as well as on protein-prote

177 We tested the hypothesis that rare copy number variants (CNVs), especially de novo germline

178 neuroligin 4), including point mutations and copy number variants (CNVs), have been associated with s

179 luding single-nucleotide variants (SNVs) and copy number variants (CNVs), in the non-coding regions o

180 A number of rare copy number variants (CNVs), including both deletions an

181 te for other classes of variation, including copy number variants (CNVs), microsatellites, and mobile

182 nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are

183 Human genomes harbor copy number variants (CNVs), which are regions of DNA ga

184 the best exemplar of the latter being large copy number variants (CNVs).

185 e biologically important information such as copy number variants (CNVs).

186 der spectrum of genetic variation, including copy number variants (CNVs).

187 th facial morphological variants and genetic copy number variants (CNVs).

188 sm have an elevated frequency of large, rare copy number variants (CNVs).

189 highly prevalent form of genetic variation: Copy Number Variants (CNVs).

190 esence of several hundred apparently de novo copy number variants (CNVs).

191 mon feature of structural variants (SVs) and copy number variants (CNVs).

192 microscopic genomic rearrangements including copy number variants (CNVs).

193 SNVs), recessive/homozygous SNVs, or de novo copy number variants (CNVs); however, most ASD cases con

194 Recent data have suggested that copy-number variants (CNVs) also contribute to BBS.

195 We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected

196 Copy-number variants (CNVs) are a major form of genetic

197 The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror p

198 t the rates of large-scale (>100 kb) de novo copy-number variants (CNVs) are significantly elevated r

199 Large copy-number variants (CNVs) are strongly associated with

200 sequencing to detect fetal aneuploidies and copy-number variants (CNVs) at ~1 Mb resolution.

201 Intragenic copy-number variants (CNVs) contribute to the allelic sp

202 ed by genomic disorders due to rare deletion copy-number variants (CNVs) determined to be de novo by

203 Rare copy-number variants (CNVs) have been implicated in auti

204 Copy-number variants (CNVs) have been the predominant fo

205 onstrated an excess of deleterious autosomal copy-number variants (CNVs) in females compared to males

206 gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case C

207 nts with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probabl

208 Copy-number variants (CNVs) of chromosome 15q13.3 manife

209 We identified five subjects with copy-number variants (CNVs) on 17p13.1 for whom we perfo

210 We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted

211 Copy-number variants (CNVs) represent a significant inte

212 ol individuals were screened genome wide for copy-number variants (CNVs) that disrupted two genes on

213 ute to the pathogenicity of rare, multigenic copy-number variants (CNVs) that have been observed in p

214 rangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by ext

215 elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recess

216 y-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data.

217 (SNVs), small insertions/deletions (indels), copy-number variants (CNVs), and other structural varian

218 (CMA) can detect genomic imbalances such as copy-number variants (CNVs), but balanced chromosomal ab

219 Rare mutations, including copy-number variants (CNVs), contribute significantly to

220 signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individual

221 etectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a

222 enome instability by generating Alu-mediated copy-number variants (CNVs).

223 lic homologous recombination (NAHR)-mediated copy-number variants (CNVs).

224 n, 71 rare de novo (n=8) or inherited (n=63) copy-number variants (CNVs; 50 duplications and 21 delet

225 New structural mutations (de novo copy number variants [CNVs], which are chromosomal micro

226 Including copy number variants, coding de novo mutations contribut

227 Genome-wide scans have uncovered rare copy number variants conferring high risk of psychiatric

228 Rare copy-number variants conferring moderate to high risk of

229 Genome scanning methods for copy number variants continue to identify lesions underl

230 Rare copy number variants contribute significantly to the ris

231 Of these, copy number variants contribute the greatest predicted f

232 ms through which highly penetrant, multigene copy number variants contribute to disease risk.

233 aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic archite

234 shed common variant, rare coding variant and copy number variant data, we examined the relationship b

235 We identified rare heterozygous copy-number variant deletions or single-nucleotide varia

236 Analysis of copy number variants detected 5.2 deletions and 10.3 amp

237 Furthermore, csa1 copy number variants differ in their immunostimulatory c

238 Copy number variant disorders arise from altering the do

239 De novo copy number variants (dnCNVs) arising at multiple loci i

240 variants/indels (dnSNVs/indels) and de novo copy number variants (dnCNVs).

241 the translational importance of large-effect copy number variants for informing mechanisms underlying

242 de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 control

243 NOES, an algorithm for the detection of rare copy number variants from exome sequencing data.

244 icate gene annotation, and better understand copy-number-variant genetic diversity at the base-pair l

245 Mouse models of the 16p11.2 copy number variant have recapitulated some of the patie

246 ndly R package, modSaRa, designed to perform copy number variants identification.

247 alyses, and module clustering, together with copy number variants implicated in TS, strongly implicat

248 further 3.6% was associated with a putative copy number variant in MYO3B.

249 These included copy number variants in 14% (n=54, 15% are novel), and p

250 tified de novo loss of function mutations or copy number variants in high-confidence ASD-associated g

251 ion of single nucleotide variants and exonic copy number variants in one comprehensive assessment.

252 ted genomic regions are hotspots for somatic copy number variants in the brain and therefore a herita

253 erstanding of the possible roles of germline copy number variants in the etiology of melanoma.

254 Genes implicated by copy number variants in TS were enriched in the interneu

255 analyses show six genes that have recurrent copy-number variants in three squamous-cell carcinomas (

256 esulting from any genetic variant, including copy number variants, indels and single-nucleotide varia

257 A major cause of peripheral neuropathy is a copy number variant involving the Peripheral Myelin Prot

258 (ND/CAs), i.e., the analysis of sequence and copy number variants, leaves a substantial proportion of

259 s and individual genes through which 22q11.2 copy number variants may confer risk for each disorder.

260 The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with auti

261 m EGF-treated mice, but increased intergenic copy number variant mutations were detected.

262 nd IQ-matched control subjects with no large copy number variants (n = 19), recruited from a large ge

263 Duplication and triplication of copy number variants of 22q11.2 are consistently and rob

264 As these disorders essentially represent copy number variants of the sex chromosomes, investigati

265 Copy-number variants of chromosome 16 region 16p11.2 are

266 Children who carried two large copy-number variants of unknown clinical significance we

267 ns have also been identified, such as a rare copy number variant on chromosome 16p11.2.

268 Now, other structural variants like copy number variants or DNA inversions, either germ-line

269 have demonstrated increased load of de novo copy number variants or single nucleotide variants in in

270 nd DNA sequencing has confirmed that de novo copy-number variants or point mutations in protein-codin

271 hism arrays, next-generation sequencing, and copy number variant platforms are accelerating the disco

272 We compared copy number variants present in 4634 nonsyndromic CHD ca

273 nd duplications independently and identified copy number variant regions exclusive to cases.

274 12 genes, p=0.21), but specific genes within copy-number variant regions associated with schizophreni

275 individuals who did not carry any of the 93 copy number variants reported to be pathogenic.

276 is rapidly accumulating that rare, recurrent copy number variants represent large effect risk factors

277 rences in single-nucleotide polymorphisms or copy number variants, respectively, for differential dis

278 d ExomeDepth to identify coding sequence and copy number variants, respectively, resulted in a defini

279 CTCL is distinctive in that somatic copy number variants (SCNVs) comprise 92% of all driver

280 d both single nucleotide variants and exonic copy number variants, such as hemizygous nonsense, frame

281 n, CNV-seq reported one purported pathogenic copy number variant that was not detected by array CGH.

282 entification of chromosomal aneuploidies and copy number variants that are associated with fetal stru

283 example, single nucleotide polymorphisms and copy number variants that are transmitted or are new mut

284 These assemblies reveal structural and copy number variants that differentiate the subspecies a

285 as been linked with the acquisition of large copy number variants that provide mutated cells with a g

286 We searched for copy number variants that were increased among patients

287 previous evidence of overlap with pathogenic copy number variants, the position of the mutation in th

288 ve extended DECIPHER from a database of just copy-number variants to allow upload, annotation and ana

289 From studies of copy number variants we have also learned that the rare

290 confirmed aneuploidy or a causal pathogenic copy number variant were excluded from WES analyses.

291 Copy number variants were called by PennCNV and filtered

292 No segregating rare copy number variants were detected by array comparative

293 Causal copy-number variants were found in 12 patients (11.9%) w

294 +) fibroblasts presented increased levels of copy number variants when compared to heterozygous or R3

295 we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia

296 chromosome 15q13.3 implicated by a recurrent copy number variant, which predisposes to an array of ps

297 Large copy-number variants, which were present in fewer patien

298 e genomic hybridization was used to identify copy number variants, while exome sequencing was used to

299 2 deletion syndrome (22q11DS) is a recurrent copy number variant with high penetrance for development

300 We also identify 8 copy number variants with contributions to resistance, a