ライフサイエンスコーパス: whole-exome sequencing

1 notyping arrays, whole genome sequencing and whole exome sequencing.

2 ividuals from families A, B, and E underwent whole exome sequencing.

3 YARS, c.499C > A, p.Pro167Thr) identified by whole exome sequencing.

4 tified in an Old Order Amish patient through whole exome sequencing.

5 t hundred twenty-nine TOF patients underwent whole exome sequencing.

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

7 uction in sequencing requirement compared to whole exome sequencing.

8 human pol eta-deficient (XP-V) cells through whole-exome sequencing.

9 nal family members who were not evaluated by whole-exome sequencing.

10 nBLL,11q,) cases by copy-number analysis and whole-exome sequencing.

11 receptor, AMHR2, in 3% of CHH probands using whole-exome sequencing.

12 tion on CARD11 mutations discovered by using whole-exome sequencing.

13 f 2,310 individuals who underwent diagnostic whole-exome sequencing.

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

15 136 pIBD and 106 control samples underwent whole-exome sequencing.

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

17 L) cases and controls with normal hearing by whole-exome sequencing.

18 pylori-infected INS-GAS mice was assessed by whole-exome sequencing.

19 -associated EYS variants were ascertained by whole-exome sequencing.

20 nic Liver Cancer (BCLC) 0/A were analyzed by whole-exome sequencing.

21 tion in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and

22 Using genotyping chip, whole-exome sequencing (75x depth) and high-depth (22x)

23 Whole exome sequencing, a cancer gene panel, or both wer

24 We performed whole-exome sequencing analyses of 75 patients from 40 f

25 We performed whole-exome sequencing analyses of blood samples from an

26 In whole-exome sequencing analyses of more than 1000 childr

27 In whole-exome sequencing analyses of patients from familie

28 Whole exome sequencing analysis identified a rare missen

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

30 o prioritize candidate genes identified from whole-exome sequencing analysis of 98 cutaneous melanoma

31 Whole exome sequencing and autozygosity mapping unveiled

32 into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 tu

33 vidual differences in pain; and third, using whole exome sequencing and dynamic clamp, we show that i

34 Here we perform whole exome sequencing and gene expression analysis of m

35 A mutations cause ASD in humans, we screened whole exome sequencing and microarray data from a clinic

36 ng Array and HumanExomeChip) and sequencing (whole exome sequencing and targeted resequencing of IBD

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

38 Whole-genome sequencing, whole exome-sequencing and transcriptome sequencing were

39 Using whole-exome sequencing and a web-based gene-matching pro

40 By combining whole-exome sequencing and comparative global proteomic

41 cluded with surgical resection and performed whole-exome sequencing and copy-number variant (CNV) ana

42 Whole-exome sequencing and homozygosity mapping of multi

43 Whole-exome sequencing and linkage analysis have identif

44 Thus, we performed whole-exome sequencing and tested candidate mutant allel

45 Using whole-exome sequencing and transcriptional profiling, we

46 We investigate whole-exome sequencing and transcriptome profiles from ~

47 By studying whole-exome sequencing and whole-genome bisulfite sequen

48 We generated whole-exome sequencing and whole-genome genotyping data

49 Here, we perform whole-exome-sequencing and genome-wide genotyping in 145

50 of single-gene testing, gene panel testing, whole exome sequencing, and more recently, whole genome

51 l, infectious etiologies, genetic screening, whole exome sequencing, and the phage-display assay, Vir

52 with whole-genome copy-number variant (CNV), whole-exome sequencing, and Assay for Transposase-Access

53 real and synthetic whole-genome sequencing, whole-exome sequencing, and deep targeted sequencing dat

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 l place in diagnosis and what the role is of whole-exome sequencing are relevant questions for neurol

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

58 ens spanning 31 cancers which have undergone whole exome sequencing as part of TCGA.

59 h congenital heart disease who had undergone whole-exome sequencing as part of the CHD GENES study (C

60 Whole-exome sequencing at multiple time points reveal ac

61 Here, we perform deep whole-exome sequencing (average read depth 584x) in 111

62 mor HLA peptide repertoire, by incorporating whole exome sequencing, bulk and single-cell transcripto

63 In specific cases, whole-exome sequencing can help diagnose nonsyndromic uv

64 Whole-exome sequencing can provide insight into the rela

65 Retrospective whole-exome sequencing confirmed a homozygous splice-sit

66 for copy-number variant (CNV) discovery from whole exome sequencing data but can require hours to day

67 Using whole exome sequencing data derived from a cohort of 17

68 Whole exome sequencing data from child-parent trios were

69 Simulation studies and analysis of whole exome sequencing data from The Cancer Genome Atlas

70 Whole exome sequencing data were overlaid, and segregati

71 ber status of genes and genomic regions from whole exome sequencing data.

72 he basis of phenotypic features, we analyzed whole-exome sequencing data and phenotypic similarities

73 We applied our method to whole-exome sequencing data from 11,873 tumor-normal pai

74 Whole-exome sequencing data from 508 individuals were us

75 These data were integrated with whole-exome sequencing data from 829 sporadic, nonsyndro

76 by abnormal GnRH-1ns migration, we examined whole-exome sequencing data from KS subjects.

77 Analyses of a third data set comprising whole-exome sequencing data from NDMM patients identifie

78 We analyzed whole-exome sequencing data of 4549 AD cases and 3332 ag

79 sequent genotyping and analysis of available whole-exome sequencing data of additional case/control s

80 Analysis of whole-exome sequencing data of three PRA-affected LA and

81 Analyzing human whole-exome sequencing data, we identified a GLI3 loss-o

82 pported by both: (1) copy number variant and whole-exome sequencing data; and (2) ohnolog status.

83 Using parent-child trio whole-exome-sequencing data, we estimate the relationshi

84 d c.A551G (p.Q184R)] in 14 families from our whole exome sequencing database composed of 1385 patient

85 Whole-exome sequencing did not identify any recurrent mu

86 We performed whole-exome sequencing, examining the association betwee

87 Nonetheless, whole-exome sequencing failed to identify any shared rar

88 Whole exome sequencing findings were validated, and repo

89 a causative genes and subtypes, we performed whole exome sequencing for six affected and two unaffect

90 HP-RC, we performed homozygosity mapping and whole-exome sequencing for >100 individuals, some of who

91 ion-dependent probe amplification assays and whole-exome sequencing for 1676 unrelated patients with

92 Whole-exome sequencing, genetic crosses, and association

93 Whole-exome sequencing has both greatly increased the nu

94 genome sequencing platforms, and especially whole-exome sequencing, has helped to define the genetic

95 We performed whole-exome sequencing, homozygosity mapping, and chromo

96 Whole exome sequencing identified a single mutation in S

97 Whole exome sequencing identified rare genetic variants

98 Whole exome sequencing identified two COL6A5 rare varian

99 Whole-exome sequencing identified a heterozygous nonsyno

100 tion and NF-kappaB pathway activation, while whole-exome sequencing identified frequent mutations in

101 Whole-exome sequencing identified hemi- and heterozygous

102 Whole-exome sequencing identified individuals homozygous

103 Whole-exome sequencing identified two novel homozygous v

104 Whole-exome sequencing identified UV-signature mutations

105 , and SMN2 Both Linked-Read whole-genome and whole-exome sequencing identify complex structural varia

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

107 Whole-exome sequencing, immunoblotting, immunophenotypin

108 Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer dis

109 Whole exome sequencing in a further 37 uncharacterized f

110 We used whole exome sequencing in a VEOIBD patient presenting wi

111 In conclusion, whole exome sequencing in lipomas identified mutations i

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

113 We performed whole-exome sequencing in 222 OCD parent-child trios (18

114 ved in the pathogenesis of GPP, we performed whole-exome sequencing in 31 individuals with GPP and de

115 To address this gap, we performed whole-exome sequencing in 58 men with unexplained meioti

116 We performed whole-exome sequencing in 67 probands and 93 relatives f

117 ocytes recognizing neoantigens identified by whole-exome sequencing in 7 patients with GI cancer.

118 Whole-exome sequencing in 997 subjects failed to identif

119 The authors performed whole-exome sequencing in a case-control cohort of 600 a

120 We used whole-exome sequencing in a cohort of 122 patients with

121 Using whole-exome sequencing in a family with three cases of P

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

123 By whole-exome sequencing in a patient with a multisystem n

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

125 s, including an in-house-developed augmented whole-exome sequencing method (CoDE-seq) that enables si

126 Whole-exome sequencing (n = 22, with paired tumor/germli

127 the CHARGE consortium for replication, using whole exome sequencing (nWES = 2,868, nWESextremes = 956

128 Here, we report whole exome sequencing of 112 EnOC cases following rigor

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

130 We performed whole exome sequencing of 240 patients with thoracic aor

131 In this study, we performed whole exome sequencing of 264 individuals from 63 multip

132 patients with idiopathic SND and subsequent whole exome sequencing of additional family members in a

133 hanisms of crenolanib resistance, we perform whole exome sequencing of AML patient samples before and

134 Whole exome sequencing of DNA from probands of 24 rHS or

135 Immunoprofiling and whole exome sequencing of the patient did not reveal any

136 We used whole exome sequencing of two independent pedigrees to i

137 Whole-exome sequencing of 159 prospectively resected pit

138 Following the whole-exome sequencing of 19 unrelated affected individu

139 andidate genetic variants were identified by whole-exome sequencing of 2 patients with familial IMD.

140 We performed whole-exome sequencing of 250 parent-offspring trios, an

141 stics of idiopathic NOA and SO, we performed whole-exome sequencing of 314 unrelated patients of Chin

142 Through whole-exome sequencing of 381 patients (232 trios) with

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

144 We also performed whole-exome sequencing of 54 liver nodules from patients

145 From whole-exome sequencing of 61 019 individuals in the Disc

146 that promote brain metastases, we performed whole-exome sequencing of 73 BM-LUAD cases.

147 Here, we performed whole-exome sequencing of 95 PMBL tumors to inform on on

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

149 In previous work based on whole-exome sequencing of a cohort of 167 MMAF-affected

150 We performed whole-exome sequencing of a hundred trios (probands and

151 Whole-exome sequencing of a nuclear family revealed that

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

153 ment, we devise a summary statistic based on whole-exome sequencing of a pre-treatment biopsy and mul

154 Whole-exome sequencing of an FNMTC kindred identified a

155 Whole-exome sequencing of donor and recipient DNA and si

156 Whole-exome sequencing of post-mortem plasma-derived cel

157 Using whole-exome sequencing of samples from 20 PCa families,

158 Whole-exome sequencing of serial cfDNA, tumor biopsies a

159 Whole-exome sequencing of serially transplanted aged and

160 Whole-exome sequencing of the Australian family that def

161 Rapid clinical whole-exome sequencing of the patients and segregation i

162 Whole-exome sequencing of the patients revealed a privat

163 Whole-exome sequencing of the remaining 424 families rev

164 Whole-exome sequencing of these cells after defined numb

165 sent report describes the identification via whole-exome sequencing of three heterozygous mutations i

166 e genetic basis of these tumors we performed whole exome sequencing on 45 tumors and matched germline

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

168 To accomplish this, we performed whole exome sequencing on the genomic DNA of 13 transgen

169 We performed whole exome sequencing on this cohort and applied 2 hypo

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

171 We performed whole-exome sequencing on 166 tumors, including 5 with s

172 s issue of the JCI, Bouafia et al. performed whole-exome sequencing on a pair of siblings with primar

173 We performed whole-exome sequencing on DNA samples from the participa

174 We performed whole-exome sequencing on individuals with histologicall

175 We performed whole-exome sequencing on two affected individuals from

176 yndrome, or (2) untargeted genetic test with whole-exome sequencing or whole-genome sequencing.

177 Results of rapid clinical whole-exome sequencing, performed to identify a potentia

178 ired resistance to erlotinib by carrying out whole exome sequencing, quantitative proteomic and phosp

179 Whole exome sequencing revealed 120,582 genetic variants

180 Whole exome sequencing revealed a nonsense variant (c.33

181 Whole exome sequencing revealed a rare shared heterozygo

182 Whole exome sequencing revealed two novel compound heter

183 Trio whole-exome sequencing revealed a de novo missense varia

184 Whole-exome sequencing revealed a novel homozygous frame

185 Whole-exome sequencing revealed differences in mutation

186 Whole-exome sequencing revealed frequent mutations in TP

187 Whole-exome sequencing revealed homozygous missense muta

188 Whole-exome sequencing revealed homozygous, truncating n

189 Whole-exome sequencing revealed no other variants in pre

190 the disease locus to 1p13.3-q23.1; however, whole-exome sequencing revealed no potential disease-cau

191 RNA and whole-exome sequencing revealed RAS-mediated TORC1 activ

192 In chRCC, whole-exome sequencing revealed that TP53 mutations were

193 Whole-exome sequencing revealed three different homozygo

194 1 longitudinal pairs) using whole-genome and whole-exome sequencing reveals that chromothripsis affec

195 ignature, we analyzed targeted resequencing, whole-exome sequencing, RNA sequencing, and immunohistoc

196 apid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases o

197 DNAscan can analyse a whole exome sequencing sample in 1 h and a 40x whole gen

198 Whole exome sequencing showed a KMT2C-specific pathogeni

199 Recent whole exome sequencing studies in humans have provided n

200 wed that there is little concordance between whole exome sequencing studies of SMZL.

201 e B-cell lymphoma (DLBCL) patients, 2 recent whole-exome sequencing studies proposed partially overla

202 lian diseases, but even with whole genome or whole exome sequencing, the majority of cases remain uns

203 We applied trio whole exome sequencing to a young woman who experienced

204 We used whole exome sequencing to assess the prevalence of uniqu

205 We performed whole exome sequencing to define the mutational spectrum

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

207 etabolome profiling as well as mitochondrial whole-exome sequencing to detect mitochondrial alteratio

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

209 Applying whole-exome sequencing to eight triplicate samples, we i

210 Using whole-exome sequencing to examine the genetic causes of

211 We used whole-exome sequencing to identify compound heterozygous

212 We used whole-exome sequencing to identify novel monogenic cause

213 Ten additional patients were sequenced using whole-exome sequencing to infer the clonal evolution pat

214 ioma evolution in conditional mutant mice by whole-exome sequencing, transposon mutagenesis forward g

215 Whole exome sequencing was performed in three affected m

216 Whole exome sequencing was performed on all patients.

217 Whole-exome sequencing was done in a convenience sample

218 Whole-exome sequencing was performed in a family compris

219 Whole-exome sequencing was performed in children with CT

220 Whole-exome sequencing was performed on both patients, a

221 Targeted deep sequencing/whole-exome sequencing was performed pre-EPAG and at pri

222 Whole-exome sequencing was performed to identify gene va

223 Whole-exome sequencing was used to construct phylogeneti

224 Whole-exome sequencing was used to investigate the disea

225 By whole-exome sequencing we identify EMP3, encoding epithe

226 Upon whole exome sequencing, we identified a homozygous mutat

227 Using whole exome sequencing, we identified homozygous framesh

228 is, targeted next-generation sequencing, and whole-exome sequencing, we describe distinct missense an

229 Through whole-exome sequencing, we discovered genetic abnormalit

230 Using whole-exome sequencing, we identified 4 novel LRP6 heter

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

232 By whole-exome sequencing, we identified a novel frameshift

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

234 By whole-exome sequencing, we identified mutations affectin

235 By whole-exome sequencing, we identified rare homozygous ge

236 Here, using whole-exome sequencing, we identified three different bi

237 nt-specific somatic mutations, identified by whole-exome sequencing, were used to assess circulating

238 Here, we identified with whole exome sequencing (WES) a novel frameshift mutation

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

240 vidual differences in pain; and third, using whole exome sequencing (WES) and dynamic clamp, we show

241 rated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing

242 ration sequencing (NGS) technology including whole exome sequencing (WES) and whole genome sequencing

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

244 Whole exome sequencing (WES) has been widely used in hum

245 We performed whole exome sequencing (WES) in DNA samples collected fr

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

247 Here, we first conducted whole exome sequencing (WES) of 100 children with ASD an

248 compared against ethnicity-matched clinical whole exome sequencing (WES) referral tests and a case c

249 Whole exome sequencing (WES) studies for autism spectrum

250 demonstrate its application in the 3C-Dijon whole exome sequencing (WES) study (n = 1924, nWESextrem

251 ired to detect significant associations in a whole exome sequencing (WES) study.

252 ify genetic variants associated with AgP via whole exome sequencing (WES) through a familial screenin

253 We used whole exome sequencing (WES) to characterize somatic mut

254 Whole exome sequencing (WES) was performed in the first

255 Whole exome sequencing (WES) was performed.

256 We perform whole exome sequencing (WES), RNA sequencing, methylatio

257 By the combined use of whole exome sequencing (WES), SNP-array and WES-based ho

258 Whole exome sequencing (WES), targeted gene panel sequen

259 While TMB was previously determined via whole exome sequencing (WES), there have been approaches

260 ous mutations within ANO5 were identified by whole exome sequencing (WES).

261 nome wide UV mutation features, we performed whole exome-sequencing (WES) to profile single nucleotid

262 ar diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful a

263 tations in 94 known IPN genes, who underwent whole-exome sequencing (WES) analyses.

264 ic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility

265 er in Hispanic/Latino patients, we performed whole-exome sequencing (WES) and RNA sequencing on tumor

266 We conduct an analysis of whole-exome sequencing (WES) and whole-genome sequencing

267 y, from analyses of copy number variation to whole-exome sequencing (WES) and whole-genome sequencing

268 The NBSeq project evaluated whole-exome sequencing (WES) as an innovative methodolog

269 Training data: Two sets of public whole-exome sequencing (WES) data for metastatic melanom

270 We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals w

271 We analyzed whole-exome sequencing (WES) data from 457 paired primar

272 Whole-exome sequencing (WES) finds a CKD-related mutatio

273 Although whole-exome sequencing (WES) has been applied to case se

274 Whole-exome sequencing (WES) has facilitated the discove

275 We performed whole-exome sequencing (WES) in 551 individuals with CAK

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

277 Whole-exome sequencing (WES) is now being used in clinic

278 Whole-exome sequencing (WES) of 47 tumors revealed recur

279 in BASM patients could be identified through whole-exome sequencing (WES) of an affected cohort.

280 We performed whole-exome sequencing (WES) of germline DNA and 157 pri

281 sp411Gly substitution and discovered through whole-exome sequencing (WES) of the proband.

282 We conducted whole-exome sequencing (WES) on 668 CM1 probands and 232

283 emonstrated for the first time in 2009, when whole-exome sequencing (WES) provided the definitive dia

284 We applied whole-exome sequencing (WES) to a national cohort of chi

285 We used whole-exome sequencing (WES) to evaluate the presence of

286 Whole-exome sequencing (WES), analyses of VZV T-cell imm

287 s included candidate gene Sanger sequencing, whole-exome sequencing (WES), and whole-genome sequencin

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

289 By whole-exome sequencing (WES), we here discovered bi-alle

290 Using whole-exome sequencing (WES), we identified bi-allelic T

291 addressing the use of targeted panels versus whole-exome sequencing (WES).

292 h developmental disorders when assessed with whole-exome sequencing (WES).

293 e collected to perform immune monitoring and whole-exome sequencing (WES).

294 7 patients along with matched normal DNA, by whole-exome sequencing (WES).

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

296 with or without AVSD, with genomic data from whole exome sequencing, whole genome sequencing, and/or

297 ies, including disease-specific gene panels, whole-exome sequencing, whole-genome sequencing (WGS), m

298 had a yield of 82.7% compared with 33.6% for whole-exome sequencing/whole-genome sequencing (n=143) g

299 founder mutation is not suspected, adopting whole-exome sequencing/whole-genome sequencing as a firs

300 as been on leveraging DNA sequencing such as whole exome sequencing, with the effort of using RNA-seq