ライフサイエンスコーパス: whole-exome sequencing

1 nown, despite many of them being screened by whole exome sequencing.

2 variation and mutational load as assessed by whole exome sequencing.

3 in liver, lung and gastrointestinal tract by whole exome sequencing.

4 ardiography, magnetic resonance imaging, and whole exome sequencing.

5 validate the diagnostic and research use of whole exome sequencing.

6 e performed using whole-genome sequencing or whole-exome sequencing.

7 y, immunohistochemistry, RNA sequencing, and whole-exome sequencing.

8 ment of normal and abnormal regions by using whole-exome sequencing.

9 ge multiplex family with U-HAE and performed whole-exome sequencing.

10 lies without known mutations using data from whole-exome sequencing.

11 referred for cardiac magnetic resonance and whole-exome sequencing.

12 from 22 countries were investigated by using whole-exome sequencing.

13 rying a deleterious EBF3 variant detected by whole-exome sequencing.

14 , retinal features, electroretinography, and whole-exome sequencing.

15 44% using direct DNA sequencing followed by whole-exome sequencing.

16 omal-recessive variants in AP3B2 by means of whole-exome sequencing.

17 Fourteen specimens were subject to whole-exome sequencing.

18 Mc4r and Sim1 genes were identified through whole-exome sequencing.

19 136 pIBD and 106 control samples underwent whole-exome sequencing.

20 fied through linkage-coupled next-generation whole-exome sequencing.

21 ing, high-resolution copy number arrays, and whole-exome sequencing.

22 ived cfDNA, sufficient for standard coverage whole-exome sequencing.

23 gh concordance of cfDNA and metastatic tumor whole-exome sequencing.

24 rformed using haplotype sharing analysis and whole-exome sequencing.

25 tion based on the off-target reads from deep whole-exome sequencing.

26 In a 3-generation family, we identified by whole exome sequencing a novel mutation in CDH2 (c.686A>

27 Using combined homozygosity mapping and whole exome sequencing, a genetically isolated family wa

28 By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation

29 2 with indeterminate colitis) and performed whole-exome sequencing analyses of the microdissected tu

30 A trio-based whole exome sequencing analysis in the first family dete

31 Whole-exome sequencing analysis identified a novel homoz

32 We performed whole-exome sequencing analysis in two patients who had

33 t's clinical and biochemical phenotype) with whole-exome sequencing analysis through a semiautomated

34 s, including 436 cases and 169 controls with whole exome sequencing and an additional 6713 cases and

35 Moreover, whole exome sequencing and targeted sequencing of the ma

36 Whole exome sequencing and whole genome sequencing (WGS)

37 To address this question, we performed whole-exome sequencing and clonality analysis of 72 urot

38 logenetic techniques on data generated using whole-exome sequencing and copy number profiling of prim

39 Integrated genomic analyses, including whole-exome sequencing and copy number, gene expression

40 We used sequential targeted and whole-exome sequencing and described clonal evolution in

41 ations in ampullary carcinomas, we performed whole-exome sequencing and DNA copy-number analysis on 6

42 Using whole-exome sequencing and in silico neoantigen predicti

43 unities study, we performed whole-genome and whole-exome sequencing and measured serum levels of 25 p

44 V617F, MPLW515K/L, and CALR mutations, using whole-exome sequencing and next-generation sequencing (N

45 METHODS AND We performed whole-exome sequencing and nucleotide-level coverage ana

46 Using a combination of trio-based whole-exome sequencing and Sanger sequencing in five sim

47 Whole-exome sequencing and Sanger sequencing in six unre

48 Genetic analysis was performed by whole-exome sequencing and Sanger sequencing.

49 y member 11 (CARD11) was identified by using whole-exome sequencing and segregated perfectly to famil

50 Trio-based whole-exome sequencing and targeted re-sequencing identi

51 Using whole-exome sequencing and transcriptional profiling, we

52 ere, we performed an integrative analysis of whole-exome sequencing and transcriptome sequencing in a

53 Whole-exome sequencing and whole-genome sequencing ident

54 significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regul

55 yzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal

56 multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceed

57 Using a whole-exome sequencing approach, we identified recessive

58 ing multiple molecular techniques, including whole exome sequencing, array comparative genomic hybrid

59 Here, we combined whole-exome sequencing, array-based genotyping, and link

60 ing kinase) were independently identified by whole-exome sequencing as the cause of this condition in

61 Herein, with scWES and matched bulk whole-exome sequencing (bulk WES) on two colorectal canc

62 Whole-exome sequencing can provide insight into the rela

63 We utilized whole exome sequencing, copy number algorithm evaluation

64 sy-sourced DNA demonstrated strikingly lower whole-exome sequencing coverage than DNA from fresh bloo

65 c copy number alternations (CNA) from cancer whole exome sequencing data based on Log R ratios and B-

66 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's diseas

67 We analyzed whole exome sequencing data from 12 MPNST and SNP arrays

68 application of PVP for the interpretation of whole exome sequencing data in patients suffering from c

69 Pathogenic variants in the whole exome sequencing data were identified using establ

70 ard single nucleotide polymorphism array and whole exome sequencing data.

71 by restricted maximum likelihood analysis on whole exome sequencing data.

72 We analysed whole-exome sequencing data from 5777 solid tumours, spa

73 challenge, we performed in-depth analysis of whole-exome sequencing data from cell lines generated by

74 novo mutations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with ASD, a

75 ications for the application and analysis of whole-exome sequencing data in mitochondrial disease.

76 By leveraging whole-exome sequencing data on a large family-based ASD

77 genes when integrating whole-genome CNVs and whole-exome sequencing data.

78 accurate indel calling from whole-genome and whole-exome sequencing data.

79 Whole-exome sequencing detected a de novo variant (S541Y

80 eafness and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutatio

81 In the third family, whole exome sequencing established compound heterozygosi

82 First, whole-exome sequencing findings in a recessive spastic a

83 Using whole-exome sequencing followed by genotyping, we have i

84 single rectal adenocarcinoma were chosen for whole-exome sequencing followed by mutation detection an

85 We performed whole-exome sequencing, followed by Sanger confirmation,

86 We performed whole exome sequencing for an individual with clinical f

87 as also identified in gene-based analysis of whole exome sequencing for early onset myocardial infarc

88 knowledge, this is the first study that uses whole-exome sequencing for the investigation of suicide.

89 ial drugs as well as genomic data, including whole-exome sequencing, gene and miRNA transcripts, DNA

90 More recently, whole exome sequencing has associated pathogenic genetic

91 Whole-exome sequencing has been incredibly successful in

92 contrast to genome-wide association studies, whole-exome sequencing has provided valuable information

93 More-recent data that are based on whole-exome sequencing have confirmed this heterogeneity

94 Whole exome sequencing identified a homozygous mutation

95 cond family, homozygosity mapping coupled to whole exome sequencing identified a homozygous nucleotid

96 Whole exome sequencing identified a missense mutation in

97 eotide polymorphism homozygosity mapping and whole exome sequencing identified a novel homozygous sto

98 Whole exome sequencing identified a novel mutation (p.R2

99 Whole exome sequencing identified a single mutation in S

100 rod degeneration phenotype in Reep6-/- mice, whole exome sequencing identified homozygous REEP6-E75K

101 Whole exome sequencing identified two COL6A5 rare varian

102 Whole-exome sequencing identified a CCNF missense mutati

103 with Barrett esophagus) was identified, and whole-exome sequencing identified a germline mutation (S

104 Linkage analysis and whole-exome sequencing identified a heterozygous germlin

105 Whole-exome sequencing identified candidate modifier gen

106 ic members from one family with familial PA, whole-exome sequencing identified cosegregation of the P

107 Whole-exome sequencing identified diagnostic mutations i

108 Whole-exome sequencing identified heterozygous MAP3K7 mu

109 al. performed next-generation sequencing and whole-exome sequencing, identifying new driver genes whi

110 Here, we have used whole exome sequencing in a discovery cohort of 102 unre

111 of genetic variants on atherosclerosis using whole exome sequencing in cases and controls from the au

112 Whole exome sequencing in five affected family members a

113 We performed whole exome sequencing in individuals from a family with

114 s, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leuko

115 Here, we performed whole-exome sequencing in 19 ATAs that were paired with

116 exons and intron-exon boundaries of CDH3 and whole-exome sequencing in 2 patients.

117 We conducted whole-exome sequencing in 202 case subjects with RHD and

118 We performed whole-exome sequencing in 3223 black individuals from th

119 We performed homozygosity mapping and whole-exome sequencing in 5 probands and 2 unaffected fa

120 Whole-exome sequencing in 997 subjects failed to identif

121 By using whole-exome sequencing in a further Palestinian-Jordania

122 We performed whole-exome sequencing in a large family with 14 PDB-aff

123 g a variant in Kir2.1 (Gly52Val) revealed by whole-exome sequencing in a patient presenting with symp

124 Using whole-exome sequencing in a remotely consanguineous pati

125 Homozygosity mapping and whole-exome sequencing in an IO IBD patient and subseque

126 s highlight the role of expanded testing and whole-exome sequencing in critically ill infants and emp

127 Here, we evaluate the role of whole-exome sequencing in exertion-related SUDY cases.

128 Whole-exome sequencing in five families affected by mild

129 Here, we used whole-exome sequencing in four families exhibiting domin

130 Using whole-exome sequencing in four probands with undiagnosed

131 Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex famil

132 We performed whole-exome sequencing in individuals with sensorineural

133 Whole-exome sequencing in MF5L12 identified an Actr2 gen

134 Through whole-exome sequencing in subjects with Joubert syndrome

135 We have used whole-exome sequencing in ten individuals from four unre

136 Here, we employed whole-exome sequencing in two unrelated consanguineous k

137 reliable and rapid ethnicity annotation from whole exome sequencing individual's data, validated it o

138 have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) perfor

139 gle-nucleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanes

140 Through whole exome sequencing of a family of three affected sib

141 Whole exome sequencing of HLHS fibroblasts identified de

142 Here, we analyze whole exome sequencing of matched pre- and post-neoadjuv

143 To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients.

144 Whole-exome sequencing of 33 unrelated patients with EoE

145 We then performed whole-exome sequencing of 42 unrelated children with acu

146 We performed whole-exome sequencing of 43 unrelated probands affected

147 Whole-exome sequencing of 5 tumors and a normal buccal m

148 We performed whole-exome sequencing of 66 CLL families, identifying 4

149 Whole-exome sequencing of a breast cancer from a c.104T>

150 and PDZ domain-containing 2 (MAGI2) through whole-exome sequencing of a deeply phenotyped cohort of

151 Here, we performed whole-exome sequencing of a patient with disseminated My

152 Whole-exome sequencing of cell-free DNA (cfDNA) could en

153 In addressing this need, we performed whole-exome sequencing of ID8, the most widely used tran

154 FACETS using The Cancer Genome Atlas (TCGA) whole-exome sequencing of lung adenocarcinoma samples.

155 Here, we conducted whole-exome sequencing of patients with optic atrophy an

156 Here, we describe the identification by whole-exome sequencing of seven probands harboring domin

157 Whole-exome sequencing of the remaining 424 families rev

158 Here, we performed whole-exome sequencing of tumors from three GEMMs of lun

159 Whole-exome sequencing of tumour biopsies taken before t

160 rs for dacomitinib sensitivity, we performed whole exome sequencing on 18 cisplatin-resistant metasta

161 We performed whole exome sequencing on 29 TNBC cases from the MD Ande

162 We performed whole exome sequencing on a patient with Charcot-Marie-T

163 We performed whole exome sequencing on six out of nine members in a t

164 We then carried out whole exome sequencing on the remaining negative cases i

165 We performed whole-exome sequencing on 10 relapsing individuals and 1

166 ctive cohort study, we performed multiregion whole-exome sequencing on 100 early-stage NSCLC tumors t

167 identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 famili

168 To address this, we performed multiregion whole-exome sequencing on 51 tumor regions from 13 ESCC

169 derstanding of familial autism, we performed whole-exome sequencing on five families in which second-

170 We performed whole-exome sequencing on individuals with histologicall

171 We performed whole-exome sequencing on matched samples of breast canc

172 Methods We performed whole-exome sequencing on pre- and post-ASCT samples fro

173 Whole-exome sequencing or whole-genome sequencing was us

174 rred to a clinical diagnostic laboratory for whole-exome sequencing; our goal was to determine the fr

175 Here, we report results of whole exome sequencing performed on members from a singl

176 cancer alleles emerging from whole-genome or whole-exome sequencing projects as 'drivers' or 'passeng

177 Whole-exome sequencing provided a diagnosis in 22 of 92

178 Whole-exome sequencing reached a read depth of 10x acros

179 By whole-exome sequencing, recessive protein-truncating mut

180 Linkage analysis and whole exome sequencing revealed a homozygous nonsense mu

181 Whole exome sequencing revealed KMT2A-associated Wiedema

182 Whole exome sequencing revealed the heterozygous missens

183 Whole-exome sequencing revealed a homozygous 2 bp deleti

184 Whole-exome sequencing revealed a homozygous premature s

185 Whole-exome sequencing revealed compound heterozygous CL

186 Whole-exome sequencing revealed compound heterozygous mi

187 Whole-exome sequencing revealed homozygous missense and

188 Whole-exome sequencing revealed homozygous missense muta

189 Whole-exome sequencing revealed that the Kras(mut) allel

190 Whole-exome sequencing revealed the presence of a sponta

191 athy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two app

192 Whole-exome sequencing, reverse transcription polymerase

193 ntributions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide

194 The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical

195 Recently single-cell whole-exome sequencing (scWES) has deeply expanded and s

196 Using whole-exome sequencing, SNPchip-based linkage analysis,

197 pective clinical study involving multiregion whole-exome sequencing suggest that driver mutations in

198 and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, an

199 ombination of large-scale drug screening and whole-exome sequencing, that our erlotinib-resistant col

200 transplanted and according to array CGH and whole exome sequencing, the pathogenesis of plasma cell

201 METHODS AND We used whole exome sequencing to detect pathogenic variants in

202 In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnos

203 Here, we have performed whole exome sequencing to identify recessive causes of S

204 unexplained by known variants and performed whole exome sequencing to probe for other rare, highly p

205 lower average false genotype rate than using whole-exome sequencing to assess more than 300 genes in

206 We used whole-exome sequencing to detect the presence of CHIP in

207 Here, we have performed whole-exome sequencing to identify a recurrent homozygou

208 in diagnosis included the increasing use of whole-exome sequencing to identify gene defects and the

209 In the present study, we performed whole-exome sequencing to identify the causative mutatio

210 The aim of this study was to use whole-exome sequencing to improve understanding of the g

211 We used whole-exome sequencing to investigate the underlying cau

212 Here, we used whole-exome sequencing to unravel the underlying genetic

213 e influence on patient outcomes, we analyzed whole exome sequencing tumor data for 333 patients from

214 Here, whole exome sequencing uncovered a novel molecular basis

215 Whole exome sequencing, verified by Sanger sequencing, i

216 METHODS AND Whole exome sequencing was performed in 2 cousins in thi

217 METHODS AND Whole exome sequencing was performed on 2 cousins with A

218 Whole exome sequencing was performed on 62 sIBM patients

219 Whole exome sequencing was undertaken on selected indivi

220 Whole-exome sequencing was conducted from April 2015 to

221 To map the genes associated with PNTM, whole-exome sequencing was conducted in 12 PNTM families

222 In this brief report, whole-exome sequencing was conducted on a patient with d

223 olecular diagnoses in 4.9% of cases in which whole-exome sequencing was informative.

224 Whole-exome sequencing was performed for the twin pair t

225 Whole-exome sequencing was performed on DNA samples from

226 Whole-exome sequencing was performed on tumor DNA extrac

227 urable and clinically heterogeneous disease, whole-exome sequencing was performed on tumor/normal pai

228 Whole-exome sequencing was performed to identify gene va

229 Whole-exome sequencing was performed to identify mutatio

230 Whole-exome sequencing was used to independently identif

231 Using whole exome sequencing, we identified an 8,678 bp hetero

232 Using whole exome sequencing, we identified homozygous truncat

233 Using whole exome sequencing, we identified in a child with co

234 By performing homozygosity mapping and whole-exome sequencing, we found homozygous variants in

235 Using trio whole-exome sequencing, we have identified de novo heter

236 Using whole-exome sequencing, we have shown that this conditio

237 By whole-exome sequencing, we identified a heterozygous tru

238 Through genetic linkage mapping and whole-exome sequencing, we identified a loss-of-function

239 Using whole-exome sequencing, we identified a mutation in the

240 By using whole-exome sequencing, we identified a novel missense m

241 By whole-exome sequencing, we identified homozygous missens

242 Using whole-exome sequencing, we identified homozygous variant

243 Using whole-exome sequencing, we identified loss-of-function m

244 Using whole-exome sequencing, we identified rare homozygous mi

245 Using whole-exome sequencing, we identified two frameshift mut

246 Using targeted and whole-exome sequencing, we studied 32 human and 87 roden

247 Using whole-exome sequencing, we validate the concordance of c

248 Linkage analysis and whole exome sequencing were performed in consanguineous

249 Here, we performed whole exome sequencing (WES) and canine high-density (cH

250 oal of this study was to determine whether a whole exome sequencing (WES) approach could identify pat

251 the genetic susceptibility to leprosy,while whole exome sequencing (WES) approach has not yet been a

252 eloped an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data to identify rare and i

253 ign, Setting, and Participants: We performed whole exome sequencing (WES) from peripheral lymphocyte

254 Recently whole exome sequencing (WES) has become primary strategy

255 We performed whole exome sequencing (WES) in a consanguineous family

256 Whole Exome Sequencing (WES) is a powerful clinical diag

257 number of human degenerative disorders, and whole exome sequencing (WES) is a powerful tool for stud

258 Whole exome sequencing (WES) is widely utilized both in

259 Here we report whole exome sequencing (WES) on a cohort of 71 patients

260 ns with allelic fractions down to 0.03% in a whole exome sequencing (WES) study with a background err

261 We used whole exome sequencing (WES) to identify mutations prese

262 Whole Exome Sequencing (WES) was performed to exclude an

263 identify and validate novel HSCR genes using whole exome sequencing (WES), burden tests, in silico pr

264 We performed whole exome sequencing (WES), RNA sequencing (RNA-seq),

265 of fertility-related beta-defensin genes and whole exome sequencing (WES).

266 uTect2) were carefully evaluated on the real whole exome sequencing (WES, depth of ~50X) and ultra-de

267 atients with severe hemophilia A, we applied whole-exome sequencing (WES) and data analysis in a sele

268 Whole-exome sequencing (WES) and de novo variant detecti

269 Homozygosity mapping followed by whole-exome sequencing (WES) and founder mutation screen

270 We compared whole-exome sequencing (WES) and GWSA for this purpose.

271 Whole-exome sequencing (WES) and whole-genome sequencing

272 We performed whole-exome sequencing (WES) and whole-genome sequencing

273 be the benefits of whole-genome rather than whole-exome sequencing (WES) for identifying the genetic

274 The utility of whole-exome sequencing (WES) for the diagnosis and manag

275 Whole-exome sequencing (WES) has been successful in iden

276 Whole-exome sequencing (WES) has increasingly enabled ne

277 In these six affected individuals, whole-exome sequencing (WES) identified biallelic mutati

278 Using trio whole-exome sequencing (WES) in an sbds-negative SDS fam

279 We therefore employed whole-exome sequencing (WES) in nevus comedonicus (NC),

280 Optimal use of whole-exome sequencing (WES) in the pediatric setting re

281 Whole-exome sequencing (WES) is presently the most cost-

282 Here we performed whole-exome sequencing (WES) on 111 micro-dissected EBV-

283 ple-negative cases of ET and PMF by applying whole-exome sequencing (WES) on paired tumor and control

284 Whole-exome sequencing (WES) performed in 5 AL patients

285 Whole-exome sequencing (WES) revealed three different tr

286 eral years have witnessed the application of whole-exome sequencing (WES) to complex traits and disea

287 Here, we report the findings of whole-exome sequencing (WES) to determine the somatic mu

288 We used next-generation sequencing (NGS) and whole-exome sequencing (WES) to identify 2 novel functio

289 In this case-control study, whole-exome sequencing (WES) was performed in 51 non-His

290 m 38 individuals which we conducted by using whole-exome sequencing (WES), chromosomal microarray (CM

291 nts that might contribute to nsCPO risk, via whole-exome sequencing (WES), in multiply affected Centr

292 f detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals wi

293 Via whole-exome sequencing (WES), we identified homozygous m

294 ng combined genome-wide linkage analysis and whole-exome sequencing (WES), we identified independent

295 has led to increased utilization of clinical whole-exome sequencing (WES).

296 ant (SNV) had been detected by microarray or whole-exome sequencing (WES).

297 characteristics of CM using next-generation whole-exome sequencing (WES).

298 the remaining 25% of patients, we performed whole-exome sequencing (WES, n = 6), targeted BRAF seque

299 mpact on regulatory elements using data from whole-exome sequencing (WESs) studies.

300 st-effective alternative to whole-genome and whole-exome sequencing when investigating regions known