ライフサイエンスコーパス: allelic imbalance

1 variant type in any data that might exhibit allelic imbalance.

2 inciding to 2q11-2q16, nine markers revealed allelic imbalance.

3 performed in four tumours that demonstrated allelic imbalance.

4 firmed true loss of alleles rather than just allelic imbalance.

5 4 (42%) of 33 informative cases demonstrated allelic imbalance.

6 of 1,168 (55%) with KRAS mutations exhibited allelic imbalance.

7 o transcriptional bursting causing temporary allelic imbalance.

8 mbalance methods when there is isoform-level allelic imbalance.

9 ariants, and conservation were predictive of allelic imbalance.

10 gene expression by integrating signatures of allelic imbalance.

11 ignals spanning rs4846913 showed significant allelic imbalance.

12 xpression and the degree of parent-of-origin allelic imbalance.

13 her by copy-number loss or by an unexplained allelic imbalance.

14 oth genetic and epigenetic, that explain the allelic imbalance.

15 ndent gene expression, splicing patterns and allelic imbalances.

16 PDYN, NOS3 and NPY did not have large allelic imbalances.

17 twelve samples, to investigate the effect on allelic imbalance: (1) the primers (n = 4); (2) the poly

18 Focusing on Kras allelic imbalance, a feature shared by all three models,

19 ) profiles identified a pattern of increased allelic imbalance across the entire X chromosome in SLE

20 scan of NB to identify regions with frequent allelic imbalance (AI) and correlate the allelotype with

21 Mapping of allelic imbalance (AI) at heterozygous loci has the pote

22 thesized that APAF-1 gene dysfunction due to allelic imbalance (AI) contributes to the development an

23 port a region exhibiting a high frequency of allelic imbalance (AI) corresponding to this locus in tu

24 Allelic imbalance (AI) encompassing the apoptotic protea

25 57 (75%) HNSCC lines showed LOH or isolated allelic imbalance (AI) for at least one locus on 18q.

26 osome 1q and chromosome 3p were assessed for allelic imbalance (AI) in 47 phyllodes tumors; in all ca

27 chanisms of genetic variation, which produce allelic imbalance (AI) in heterozygotes.

28 We also investigated allelic imbalance (AI) in mammary carcinomas from (WKy x

29 gulation in diploid organisms is analysis of allelic imbalance (AI) in RNA sequencing (RNA-seq) data.

30 itecture of chromosomal alterations inducing allelic imbalance (AI) in the airway field of the most c

31 otential mechanisms, we investigated whether allelic imbalance (AI) of BRCA1 or BRCA2 expression was

32 s study, we investigated gene expression and allelic imbalance (AI) of NOD2 and ATG16L1 using common

33 for MET mutations, TFE3 rearrangements, and allelic imbalance (AI) on 3p, 6, 7q, 9p, 11, 13q, 14q, 1

34 Somatic copy number alterations leading to allelic imbalance (AI) play a critical role in cancer in

35 Allelic imbalance (AI) studies on chromosome 17 (C17) in

36 , single nucleotide polymorphisms (SNPs) and allelic imbalance (AI), including loss of heterozygosity

37 chromosomal instability is characterized by allelic imbalance (AI), representing losses or gains of

38 eny of inbred mice, we can directly test for allelic imbalance (AI), which must be due to cis-acting

39 icrosatellite repeats to examine patterns of allelic imbalance along the length of chromosome 17.

40 MCP extends tumor LOH analysis to allelic imbalance analysis and supplies complementary in

41 Allelic imbalance analysis ruled out allele-specific DDX

42 DNA from these samples was subjected to allelic imbalance analysis using HuSNP chips and was val

43 Using allelic imbalance analysis, the minor alleles of these 3

44 comas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling.

45 model and adaptive shrinkage to distinguish allelic imbalance and changes to allelic variance in sin

46 microarray containing 11 560 SNPs to detect allelic imbalance and chromosomal copy number abnormalit

47 mas and to reveal novel correlations between allelic imbalance and disease progression in colorectal

48 on and whole-genome amplification, including allelic imbalance and dropout.

49 Together, these results implicate allelic imbalance and dysregulation of orphan C/D box sn

50 netic composition in 27 of 28 NB analyzed by allelic imbalance and gene copy number.

51 en discuss statistical methods for detecting allelic imbalance and its variability across conditions

52 le fraction track for visualizing underlying allelic imbalance and loss of heterozygosity.

53 Deregulation of KLF6 by a combination of allelic imbalance and mutation may play a role in the de

54 of heterozygosity (LOH) is a common form of allelic imbalance and the detection of LOH has been used

55 324 patients with MDS for TP53 mutations and allelic imbalances and delineated two subsets of patient

56 and TFs within the Pinus lineage as well as allelic imbalances and diversity across P. densiflora.

57 cific TP53 status, loss of heterozygosity or allelic imbalance, and clinical and pathological charact

58 STmut, to visualize somatic point mutations, allelic imbalance, and copy number alterations in Visium

59 of microsatellite instability, KLF6 and TP53 allelic imbalance, and KLF6, K-RAS, TP53, and APC mutati

60 uding the analysis of transcriptional noise, allelic imbalance, and RNA processing.

61 of heterozygosity (LOH) is a common form of allelic imbalance, and the detection of LOH has been use

62 Recent evidence suggests that genome-wide allelic imbalances are inducible by carcinogens and may

63 ted them to identify microRNAs positioned in allelic imbalance area.

64 26, miR-150, and miR-205) were positioned in allelic imbalance areas.

65 d DNA from 25 microdissected AAH lesions for allelic imbalance as compared to matched normal DNA, usi

66 ssive filters to minimize the effects due to allelic imbalance as well as errors in sequencing, mappi

67 propose an algorithm that uses the degree of allelic imbalance as well as probe intensity, with a cor

68 Using allelic-imbalance assays, we show that this QTL is a glu

69 Here, we describe a method to measure mRNA allelic imbalances associated with a regulatory site fou

70 However, most methods of detecting an allelic imbalance assume diploid genomes.

71 etics in the routine clinic, we investigated allelic imbalance at 1p36, 19q13, 17p13, 10p12-15, and 1

72 the prostate, we examined the prevalence of allelic imbalance at 5 microsatellite polymorphic marker

73 eover, of 17 patients whose tumors displayed allelic imbalance at CDKN2A, 14 preferentially retained

74 Allelic imbalance at DCC was observed in 61% of CRCs.

75 ic association studies, the assessment of an allelic imbalance at heterozygous variants captures func

76 We also found convincing evidence for allelic imbalance at multiple reporter exonic SNPs in CD

77 ut reveal some other interesting patterns of allelic imbalance at other loci on chromosome 17.

78 issue pre- and post-LPS was used to test for allelic imbalance at rs315952.

79 Detecting allelic imbalance at the isoform level requires accounti

80 We show that allelic imbalance at the TPL2 locus, up-regulation of mi

81 The loss of heterozygosity/allelic imbalance at various markers in the stroma was s

82 SNP assay discovered previously undiscovered allelic imbalances at chromosomal arms 12q, 16p, 1p, and

83 Allelic imbalances at DCC were determined in CRCs.

84 Allelic imbalances at the KRAS locus are widespread.

85 Taken together, our results suggest allelic imbalance between mutated and wild-type RET as a

86 ds to a personal genome, and then measuring 'allelic imbalances' between the numbers of reads mapped

87 ly higher somatic copy number aberration and allelic imbalance burdens are identified in metastases.

88 Demonstration of 11q13 allelic imbalance by microdissection/genotyping may be a

89 eterogeneous cell populations and found that allelic imbalance can be detected in the presence of a s

90 Such allelic imbalance can result from a variety of cis-actin

91 genomic instability, such as aneuploidy and allelic imbalance, can accurately measure the cancer ris

92 ethylation regulates GDF5 expression and the allelic imbalance caused by rs143383.

93 at MCP performs better than LOH analysis for allelic-imbalanced chromosome regions and normal contami

94 Seven published [allelic imbalanced CNA (AiCNA); allelic balanced CNA (Ab

95 Furthermore, allelic imbalance, consistent with LOH, was detected in

96 The smallest region of allelic imbalance contains the podocalyxin-like (PODXL)

97 Our allelic imbalance data demonstrate that genetic variants

98 ity over existing approaches for single-cell allelic imbalance detection.

99 ulted from a hypomorphic p.Y91H mutation and allelic imbalance established in this population through

100 sue Expression project, augmenting RNA-based allelic imbalance estimation with haplotype phasing.

101 all 23 cases studied and a high frequency of allelic imbalance even in small (early) primary tumors s

102 -targeted DNA sequencing and for chromosomal allelic imbalance events by genome-wide genotype array p

103 eloped hapLOHseq for the detection of subtle allelic imbalance events from next-generation sequencing

104 The detection of subtle genomic allelic imbalance events has many potential applications

105 e analysis of single-nucleotide variants and allelic imbalance events revealed driver genes with shar

106 Adipose tissue displayed significant allelic imbalance favoring the rs315952C allele in subje

107 iving population, aggression is predicted by allelic imbalance favoring the supergene allele.

108 We demonstrate allelic imbalance favouring the G-containing strand in t

109 ohort to compute the efficiency of NMD using allelic imbalance for 2,320 rare (genome aggregation dat

110 ly of chromosome 7 revealed a submicroscopic allelic imbalance for a third distal locus, D7S677.

111 tumor formation by virtue of the absence of allelic imbalance for other common cancer-related gene d

112 The range of allelic imbalance for several missense sarcomere mutatio

113 also found SNVs for which we can anticipate allelic imbalance from the disruption of a binding motif

114 The frequency of allelic imbalance has been calculated based on the LOH e

115 In addition, allelic imbalance has been described for at least five r

116 d CAGE-Seq data, and we demonstrate that the allelic imbalance highlights causal variants in GWAS res

117 al-specific loss of heterozygosity (LOH) and allelic imbalances [i.e., partial LOH (pLOH)] observed i

118 ay technique for "fingerprinting" genomewide allelic imbalance in 14 basal cell carcinoma-blood pair

119 situ hybridization analysis revealed an APC2 allelic imbalance in 19 of 20 ovarian cancers screened a

120 m microarray analysis to examine genome-wide allelic imbalance in 60 cSCCs using paired non-tumor sam

121 We found allelic imbalance in 7 of 15 (47%) cases of AAH.

122 bly, we show that 77.4% of the genes with an allelic imbalance in a sample show 0.5 log(2) fold or mo

123 with an increased loss of heterozygosity and allelic imbalance in both hereditary and sporadic breast

124 Allelic imbalance in chromatin accessibility and diverge

125 Allelic imbalance in chromosomes 1p36 and 19q13 was dete

126 These include transcriptome-wide analyses of allelic imbalance in clonal cell populations based on se

127 Analysis of allelic imbalance in complementary DNA (cDNA) samples fr

128 pe impairs binding of HIF-2, resulting in an allelic imbalance in cyclin D1 expression, thus affectin

129 ciated with lower CD36 expression and strong allelic imbalance in ex vivo differentiated human erythr

130 luding classical imprinting and a new global allelic imbalance in expression favoring the paternal al

131 xpression quantitative trait loci signal and allelic imbalance in FAN1 messenger ribonucleic acid (mR

132 NPs within pG4 UTR sequences, we find robust allelic imbalance in gene expression across diverse tiss

133 We examined the pattern of allelic imbalance in human transitional cell carcinomas

134 ide arrays for genome-wide scans for LOH and allelic imbalance in human tumors.

135 et samples heterozygous for rs7903146 showed allelic imbalance in islet FAIRE signals and that the va

136 s is a powerful new tool for the analysis of allelic imbalance in leukemic blasts.

137 erogeneity, to uncover previously undetected allelic imbalance in low purity samples, and to identify

138 Chromosomal arms showing allelic imbalance in lung tumors from nonsmokers were ra

139 verall, 5% of human TF binding sites have an allelic imbalance in occupancy.

140 Notably, allelic imbalance in paternally expressed gene 3 (PEG3)

141 ion also associated with a high frequency of allelic imbalance in prostate tumors.

142 efficient and valid genome-wide analysis of allelic imbalance in routinely processed and whole genom

143 ethods have been used to measure the rate of allelic imbalance in small adenocarcinomas and to reveal

144 ot visible in sperm competition assays or as allelic imbalance in sperm.

145 Methods for profiling tumor-associated allelic imbalance in such scenarios break down at aberra

146 In summary, the study demonstrates that allelic imbalance in the 12q22-23 region is a genomic su

147 e microdissection, we evaluated 11q13 region allelic imbalance in the pathogenesis of pulmonary tumor

148 d to an increased loss of heterozygosity and allelic imbalance in the stroma of sporadic tumors was a

149 ical features and the loss of heterozygosity/allelic imbalance in the stroma than in the epithelium,

150 By assessing the allelic imbalance in the transcriptomes of 19 F1 hybrid

151 odifier genes might be located in regions of allelic imbalance in the tumors of BRCA1 mutation carrie

152 s shown to be informative were evaluated for allelic imbalance in tumorlet/carcinoid tissue.

153 Chromosomal regions of allelic imbalance in tumors are predicted to define the

154 The arrays were used to detect allelic imbalance in two types of human tumors, and a su

155 ), as a key alternative genetic mechanism to allelic imbalances in basal cell carcinomas.

156 binding in terms of their ability to predict allelic imbalances in ChIP-seq counts.

157 uent loss of heterozygosity (LOH) as well as allelic imbalances in chromosomes in esophageal adenocar

158 chromosome 3p21.3 region that shows frequent allelic imbalances in lung, breast, and other cancers.

159 lution genotypic analysis (n = 3) identified allelic imbalances in the CRA.

160 Association of the loss of heterozygosity/allelic imbalance, in both the stroma and epithelium, wi

161 The haplotype sequence comparison showed allelic imbalances, including presence-absence variation

162 In patients without metastasis, allelic imbalance is a better predictor of prognosis tha

163 ults indicate that loss of TbetaRIII through allelic imbalance is a frequent genetic event during hum

164 Stroma-specific loss of heterozygosity or allelic imbalance is associated with somatic TP53 mutati

165 ite haplotype shifts, or 'mirrored subclonal allelic imbalance', is a form of heterogeneity, and has

166 mas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 micros

167 t-specific loci of loss of heterozygosity or allelic imbalance (LOH/AI) and to identify which genomic

168 l tumors (HNSCCs) for loss of heterozygosity/allelic imbalance (LOH/AI) at the MPP11 genomic locus.

169 d that hotspots of loss of heterozygosity or allelic imbalance (LOH/AI) within the tumor stroma of BR

170 In addition, it has advantages over standard allelic imbalance/loss of heterozygosity assays in that

171 y features distinguished genes with elevated allelic imbalance mean and variance.

172 ods is shown to have higher power than other allelic imbalance methods when there is isoform-level al

173 sought evidence of genetic instability or of allelic imbalance (most likely representing loss of hete

174 heterozygosity (CnLOH); number of telomeric allelic imbalances (NtAI); BRCA1-like status; percentage

175 ygous at these loci, high frequencies of LOH/allelic imbalance occurred at these loci in the correspo

176 te markers, we have previously reported that allelic imbalance of 7q31 is common in prostate cancer a

177 d AI of at least one chromosome, and 67% had allelic imbalance of a chromosome other than 5q.

178 sis of blood and saliva from carriers showed allelic imbalance of APC, suggesting that these mutation

179 interpret functional enhancer mutations with allelic imbalance of chromatin accessibility and gene ex

180 eover, progressive increase in the degree of allelic imbalance of chromosomes 1p, 5q, 8p, 18q, 22q, a

181 We then investigated the allelic imbalance of EGFR transcription in fibroblast ce

182 For SA, we found widespread region-specific allelic imbalance of expression (AIE), of which genes sh

183 We used pyrosequencing to investigate allelic imbalance of Oxtr mRNA, a molecular signature of

184 tumor DNA samples may have failed to display allelic imbalance of RET, because of contamination of tu

185 four microdissected tumor DNA samples showed allelic imbalance of RET, whereas only four of the 15 no

186 Allelic imbalance of the EGFR -216G/T polymorphism was a

187 Genotyping was designed to detect allelic imbalance of the int-2 gene and involved DNA seq

188 hosphorimage densitometry analyses, we found allelic imbalance of the mutated and wild-type RET allel

189 ling revealed few differences in splicing or allelic imbalance of the TTN transcript between TTNtv(+)

190 ed into three groups: "L" tumours (n=93) had allelic imbalances of chromosomes 8p and 18q, "L/R" tumo

191 mosomes 8p and 18q, "L/R" tumours (n=60) had allelic imbalances of either chromosome 8p or 18q but no

192 lonal copy number alterations, the impact of allelic imbalance on allele-specific transcription, and

193 associations between loss of heterozygosity/allelic imbalance on chromosome 11 in the stroma and tum

194 s contributing to the loss of heterozygosity/allelic imbalance on chromosome 11 in the stroma associa

195 ewide analysis of loss of heterozygosity and allelic imbalance on DNA from isolated neoplastic epithe

196 n addition, we show that AD variants exhibit allelic imbalance on target gene expression.

197 We detect significant allelic imbalance on the wild-type over the IGH-DUX4 hap

198 ance, respectively, whereas no tumor without allelic imbalance on these chromosomal arms demonstrated

199 Lack of allelic imbalance or allelic splicing of the ABCG5 and A

200 ts describe a significant prevalence of KRAS allelic imbalances or gene dosage changes in human cance

201 s a vast improvement for detection of subtle allelic imbalance, or low proportions of cells harboring

202 n real data, airpart identified differential allelic imbalance patterns across cell states and could

203 ells, knockdown of XIST specifically altered allelic imbalance patterns between X chromosomes.

204 enable rapid and accurate identification of allelic imbalance patterns that will facilitate the mapp

205 r NAT2 alleles targetable by APA, along with allelic imbalances pointing to LOH, in ~ 24% of tumors.

206 ntion clinical trials, including chromosomal allelic imbalances, polysomy, p53, overexpression of pod

207 The resulting allelic imbalance profile is critical for determining wh

208 samples from four tumors harboring divergent allelic-imbalance profiles and with ploidy heterogeneity

209 ntify hundreds of genes that exhibit dynamic allelic imbalances, providing the first insight into the

210 For example, identifying cancer-associated allelic imbalanced regions in low tumor-cellularity samp

211 minor copy alleles can also be inferred from allelic-imbalanced regions by MCP analysis.

212 found in all primary tumors with 3p and 22q allelic imbalance, respectively, whereas no tumor withou

213 NA, we identified 793 and 1070 SNP loci with allelic imbalance, respectively.

214 Applying this method, called allelic imbalance sequencing, to sites for three miRNAs

215 entiated cSCCs; yet, despite a lower rate of allelic imbalance, some specific aberrations were observ

216 es confirmed this and identified tumors with allelic imbalance, some with clear breakpoints in 8p12.

217 Allelic imbalance, specifically microsatellite instabili

218 ted the expression, promoter methylation and allelic imbalance status of this gene in 52 paired (norm

219 ene previously implicated in this disease by allelic imbalance studies.

220 sm (SNP) and loss of heterozygosity (LOH) or allelic imbalance studies.

221 ere previously reported using chromosomal or allelic imbalance studies.

222 y adding an adjustment for sequence-specific allelic imbalances such as cross-hybridization between a

223 s coinciding with the Mcs1 gene locus showed allelic imbalance, suggesting that alterations at this l

224 We also identified allelic imbalance switching in which several genes prefe

225 taneously scores peak height correlation and allelic imbalance: the genotype-independent signal corre

226 ulation of multiple genetic alterations, and allelic imbalance throughout the genome.

227 mulation of multiple genetic alterations and allelic imbalance throughout the genome.

228 h DNA damage that can lead to biases such as allelic imbalance, uneven coverage and over representati

229 We first analyzed 124 NSCLC cases for allelic imbalance using eight microsatellite markers on

230 Overall, the median number of allelic imbalance was 47.5, ranging from 20 to 118.

231 Allelic imbalance was also analyzed at the Smad4 locus u

232 HRAS-mutant allelic imbalance was also observed in human cancer cell

233 Allelic imbalance was assessed using three markers previ

234 Frequent allelic imbalance was detected at five additional tumor-

235 fied DNA, 78% and 83% of these SNP loci with allelic imbalance was detected.

236 h non-MSI-high colorectal cancer, 18q LOH or allelic imbalance was not associated with patient surviv

237 Int-2 allelic imbalance was shown to be an early event in carc

238 Int-2 allelic imbalance was significantly associated with carc

239 We discovered that frequency of allelic imbalance was significantly higher in metastatic

240 The mean number of allelic imbalances was 36.58, 51.30, and 67.78 for pT(a)

241 hin previously identified regions of somatic allelic imbalance were associated with overall CRC risk

242 inding is reported of a polymerase dependent allelic imbalance when using next generation sequencing,

243 ight be susceptible to a polymerase specific allelic imbalance, which can result in a large amount of

244 In our study, MAOA was found to have large allelic imbalances, which indicates that there is in viv

245 rations manifested by loss of heterozygosity/allelic imbalance with 386 microsatellite markers.

246 t 23 (47%) of 49 informative cases exhibited allelic imbalance with at least one chromosome 6p marker

247 should enable identification of patterns of allelic imbalance with potential prognostic and diagnost

248 We observed 12% allelic imbalance, with loss only within chromosome 8p11

249 e majority of tumors had complex patterns of allelic imbalance, with regions of subclonal and clonal

250 , determined either by gene amplification or allelic imbalance, with the highest incidence observed a

251 cross transcripts enables the measurement of allelic imbalance within distinct cell populations.