ライフサイエンスコーパス: exome sequencing

1 low and sampling variance is high (e.g., in exome sequencing).

2 ver Cancer (BCLC) 0/A were analyzed by whole-exome sequencing.

3 ing a subset with genome-wide genotyping and exome sequencing.

4 h were then subjected to high-depth targeted exome sequencing.

5 in sequencing requirement compared to whole exome sequencing.

6 age study design using genotyping arrays and exome sequencing.

7 AVs) are routinely found in whole genome and exome sequencing.

8 (p = .039), of which all were identified by exome sequencing.

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

10 puted regions with few genes implicated from exome sequencing.

11 issense variants in DHX37 were identified by exome sequencing.

12 mily members who were not evaluated by whole-exome sequencing.

13 genomic data in deciding whether to undergo exome sequencing.

14 1q,) cases by copy-number analysis and whole-exome sequencing.

15 the affected individuals, were identified by exome sequencing.

16 es and controls with normal hearing by whole-exome sequencing.

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

18 ncreasing abundance given expanding clinical exome sequencing.

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

20 3 (18.8%) by high-throughput panel or pooled exome sequencing.

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

22 Whole exome sequencing, a cancer gene panel, or both were carr

23 We performed whole-exome sequencing analyses of 75 patients from 40 familie

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

25 In whole-exome sequencing analyses of more than 1000 children wit

26 In whole-exome sequencing analyses of patients from families with

27 Whole exome sequencing analysis identified a rare missense mut

28 ritize candidate genes identified from whole-exome sequencing analysis of 98 cutaneous melanoma patie

29 the following approaches to augment standard exome sequencing analysis: mitochondrial genome sequenci

30 Using exome-sequencing analysis and review of matchmaker datab

31 By using exome sequencing and a gene matching approach, we identi

32 Population-based exome sequencing and agnostic ExWAS were performed 5521

33 Whole exome sequencing and autozygosity mapping unveiled a nov

34 In this study, through a combination of exome sequencing and autozygosity mapping, we have ident

35 By combining whole-exome sequencing and comparative global proteomic invest

36 he underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 tumours

37 with surgical resection and performed whole-exome sequencing and copy-number variant (CNV) analysis

38 Using exome sequencing and family based rare variant analyses,

39 Here we perform whole exome sequencing and gene expression analysis of matched

40 Deep-exome sequencing and genomic copy number profiling are p

41 calcium channels among CNVs called from both exome sequencing and genotyping arrays.

42 Using exome sequencing and international matchmaking, we ident

43 Whole-exome sequencing and linkage analysis have identified 3

44 tions cause ASD in humans, we screened whole exome sequencing and microarray data from a clinical coh

45 genetic causes of monogenic diabetes, six by exome sequencing and one by genome sequencing.

46 Using exome sequencing and read count data, we detected 16 605

47 Thus, we performed whole-exome sequencing and tested candidate mutant alleles exp

48 n models are characterised by p53 profiling, exome sequencing and transcriptomics, and karyotyped usi

49 By studying whole-exome sequencing and whole-genome bisulfite sequencing o

50 We generated whole-exome sequencing and whole-genome genotyping data to ide

51 -generation sequencing techniques, including exome sequencing and whole-genome sequencing, has demons

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

53 s standardized cloud-based workflows for PDX exome-sequencing and RNA-sequencing analyses and for eva

54 Whole-genome sequencing, whole exome-sequencing and transcriptome sequencing were perfo

55 hole-genome copy-number variant (CNV), whole-exome sequencing, and Assay for Transposase-Accessible C

56 A expression by RNA-sequencing, whole-genome/exome sequencing, and clinical covariates in 134 neurobl

57 and synthetic whole-genome sequencing, whole-exome sequencing, and deep targeted sequencing datasets

58 e in situ hybridization (FISH), whole-genome/exome sequencing, and gene-expression and copy-number ar

59 ngle-gene testing, gene panel testing, whole exome sequencing, and more recently, whole genome sequen

60 e in diagnosis and what the role is of whole-exome sequencing are relevant questions for neurologists

61 anning 31 cancers which have undergone whole exome sequencing as part of TCGA.

62 enital heart disease who had undergone whole-exome sequencing as part of the CHD GENES study (Congeni

63 hy Nevada Project (HNP) cohort who underwent Exome + sequencing at Helix.

64 Whole-exome sequencing at multiple time points reveal acquisit

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

66 s: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of inte

67 d from a large referral database of clinical exome sequencing (Baylor Genetics) and compared with rar

68 A peptide repertoire, by incorporating whole exome sequencing, bulk and single-cell transcriptomics,

69 We further demonstrate the value of exome sequencing by surveying the prevalence of pathogen

70 numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear.

71 work provides a framework by which research exome sequencing can be rapidly translated in a cultural

72 In specific cases, whole-exome sequencing can help diagnose nonsyndromic uveitis

73 By querying clinical exome sequencing cases and through GeneMatcher-facilitat

74 as a higher accuracy for SCNA detection from exome sequencing compared with the five existing tools.

75 Retrospective whole-exome sequencing confirmed a homozygous splice-site muta

76 diction, namely somatic variant calling from exome sequencing data and peptide identification from MS

77 Using whole exome sequencing data derived from a cohort of 17 unrela

78 We generated exome sequencing data for 246 stillborn cases and follow

79 We analyzed exome sequencing data for de novo variants (DNVs) in a n

80 We applied our method to whole-exome sequencing data from 11,873 tumor-normal pairs and

81 med secondary analyses of brain MRI GWAS and exome sequencing data from adults in the UK Biobank.

82 Whole exome sequencing data from child-parent trios were inter

83 normal GnRH-1ns migration, we examined whole-exome sequencing data from KS subjects.

84 We analyzed whole-exome sequencing data of 4549 AD cases and 3332 age-matc

85 t genotyping and analysis of available whole-exome sequencing data of additional case/control samples

86 In the present study, exome sequencing data of cancer patients and analysis of

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

88 Analyzing human whole-exome sequencing data, we identified a GLI3 loss-of-func

89 atus of genes and genomic regions from whole exome sequencing data.

90 ze and visualize genetic variants from human exome sequencing data.

91 estimated model with ultrahigh coverage ExAC exome-sequencing data, we identified 1118 genes under un

92 tate of these SNPs cannot be determined from exome-sequencing data.

93 51G (p.Q184R)] in 14 families from our whole exome sequencing database composed of 1385 patients with

94 We examined the use of exome sequencing (ES) for NBS in the North Carolina Newb

95 The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of gen

96 We applied exome sequencing (ES) in a cohort of 89 families with th

97 opulations, mate-pair sequencing (MPseq) and exome sequencing (ExomeSeq) were conducted on different

98 Nonetheless, whole-exome sequencing failed to identify any shared rare codi

99 Whole exome sequencing findings were validated, and reported m

100 Whole genome and exome sequencing followed by Sanger confirmation were pe

101 pendent probe amplification assays and whole-exome sequencing for 1676 unrelated patients with Parkin

102 Using full exome sequencing for a 4-generation family and then targ

103 schizophrenia, indicate that the utility of exome sequencing for CNV calling has yet to be maximized

104 primary outcome was the diagnostic yield of exome sequencing for detecting genetic variants that wer

105 Adolescent and Young Adult Cancers, Study of Exome Sequencing for Head and Neck Cancer Susceptibility

106 g (ES) for NBS in the North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) proj

107 Functional genomics and exome sequencing further support the spliceosome as a sp

108 Whole-exome sequencing, genetic crosses, and association analy

109 Exome sequencing has revealed significant heterogeneity

110 Exome sequencing has transformed genetic diagnosis after

111 e sequencing platforms, and especially whole-exome sequencing, has helped to define the genetic lands

112 Variants discovered by research exome sequencing have the potential to improve populatio

113 Exome sequencing identified 5 additional SOS1 variants w

114 Whole-exome sequencing identified a heterozygous nonsynonymous

115 Exome sequencing identified a homozygous mutation at an

116 Whole-exome sequencing identified hemi- and heterozygous varia

117 Whole-exome sequencing identified individuals homozygous-by-de

118 Whole exome sequencing identified rare genetic variants in sev

119 Whole-exome sequencing identified two novel homozygous variant

120 Whole-exome sequencing identified UV-signature mutations in mu

121 ne-2 (TMX2); these variants were detected by exome sequencing in 14 affected individuals from ten unr

122 We performed whole-exome sequencing in 222 OCD parent-child trios (184 trio

123 the pathogenesis of GPP, we performed whole-exome sequencing in 31 individuals with GPP and demonstr

124 se Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (

125 To address this gap, we performed whole-exome sequencing in 58 men with unexplained meiotic arre

126 We performed whole-exome sequencing in 67 probands and 93 relatives from a

127 The authors performed whole-exome sequencing in a case-control cohort of 600 adult-o

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

129 Exome sequencing in a family with four affected individu

130 Using whole-exome sequencing in a family with three cases of POI, we

131 Whole exome sequencing in a further 37 uncharacterized familie

132 By whole-exome sequencing in a patient with a multisystem neurolo

133 We used whole exome sequencing in a VEOIBD patient presenting with col

134 We showed by exome sequencing in an independent cohort of patients wi

135 among the most common mutations revealed by exome sequencing in autism spectrum disorder (ASD).

136 Exome sequencing in diabetes presents a diagnostic chall

137 Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etio

138 udy illustrates the utility and potential of exome sequencing in genetically unique populations, such

139 In conclusion, whole exome sequencing in lipomas identified mutations in gene

140 score that could guide the implementation of exome sequencing in routine diagnostics.

141 one research laboratory performing genome or exome sequencing in the Clinical Sequencing Evidence-Gen

142 We undertook exome sequencing in three unrelated families of Caucasia

143 We performed exome-sequencing in 101 North American patients of Europ

144 luding an in-house-developed augmented whole-exome sequencing method (CoDE-seq) that enables simultan

145 We performed targeted exome sequencing, mRNA sequencing, and DNA methylation a

146 Here we apply multi-region exome sequencing (MSeq) to four treatment-naive dMMR GOA

147 Whole-exome sequencing (n = 22, with paired tumor/germline DNA

148 Here, we report whole exome sequencing of 112 EnOC cases following rigorous pa

149 or progression, we performed ultrahigh depth exome sequencing of 124 DNA damage repair/response (repa

150 Whole-exome sequencing of 159 prospectively resected pituitary

151 Following the whole-exome sequencing of 19 unrelated affected individuals, w

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

153 Here, through exome sequencing of 2 siblings with autosomal-recessive

154 We performed whole-exome sequencing of 250 parent-offspring trios, and obse

155 In this study, we performed whole exome sequencing of 264 individuals from 63 multiplex fa

156 of idiopathic NOA and SO, we performed whole-exome sequencing of 314 unrelated patients of Chinese Ha

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

158 s and validation of driver gene mutations by exome sequencing of 45 tumors.

159 CNVs were generated from exome sequencing of 4913 schizophrenia cases and 6188 co

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

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

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

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

164 ilial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and s

165 Whole-exome sequencing of a nuclear family revealed that three

166 Exome sequencing of a PCD subject identified an apparent

167 We use exome sequencing of a worldwide panel of almost 500 geno

168 s of crenolanib resistance, we perform whole exome sequencing of AML patient samples before and after

169 Whole-exome sequencing of donor and recipient DNA and single-c

170 Exome sequencing of infertile males revealed three heter

171 Whole-exome sequencing of post-mortem plasma-derived cell-free

172 Using whole-exome sequencing of samples from 20 PCa families, with t

173 Whole-exome sequencing of serial cfDNA, tumor biopsies and rap

174 Exome sequencing of siblings with severe neurodevelopmen

175 high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencin

176 Rapid clinical whole-exome sequencing of the patients and segregation in avai

177 Whole-exome sequencing of the patients revealed a private homo

178 Whole-exome sequencing of these cells after defined numbers of

179 eport describes the identification via whole-exome sequencing of three heterozygous mutations in SREB

180 We performed whole-exome sequencing on 166 tumors, including 5 with serial

181 tic basis of these tumors we performed whole exome sequencing on 45 tumors and matched germline DNA,

182 We performed exome sequencing on 78 individuals with 46,XX TDSD/OTDSD

183 We performed whole-exome sequencing on DNA samples from the participants, w

184 We performed whole exome sequencing on this cohort and applied 2 hypotheses

185 We performed whole-exome sequencing on two affected individuals from two se

186 e, or (2) untargeted genetic test with whole-exome sequencing or whole-genome sequencing.

187 Results of rapid clinical whole-exome sequencing, performed to identify a potential mono

188 tally found TTNtvs are common among clinical exome sequencing referrals.

189 time from hospital admission to ultra-rapid exome sequencing report was 17.5 days (95% CI, 14.6-21.1

190 mean time from sample receipt to ultra-rapid exome sequencing report was 3.3 days (95% CI, 3.2-3.5 da

191 in clinical management after the ultra-rapid exome sequencing report, the time from hospital admissio

192 was time from sample receipt to ultra-rapid exome sequencing report.

193 thout a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influen

194 Whole exome sequencing revealed 120,582 genetic variants.

195 Trio whole-exome sequencing revealed a de novo missense variant in

196 Whole-exome sequencing revealed a novel homozygous frameshift

197 Whole exome sequencing revealed a rare shared heterozygous mis

198 Exome sequencing revealed a recessive germline 21-bp in-

199 Whole-exome sequencing revealed homozygous, truncating nonsens

200 Whole-exome sequencing revealed no other variants in previousl

201 RNA and whole-exome sequencing revealed RAS-mediated TORC1 activation

202 Exome sequencing revealed that each affected person was

203 In chRCC, whole-exome sequencing revealed that TP53 mutations were not r

204 Whole-exome sequencing revealed three different homozygous var

205 Whole exome sequencing revealed two novel compound heterozygou

206 The exome sequencing revealed two stop-gain mutations, c.247

207 itudinal pairs) using whole-genome and whole-exome sequencing reveals that chromothripsis affects a s

208 hole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases of unkn

209 the effectiveness of rapid whole-genome or -exome sequencing (rWGS or rWES, respectively) in serious

210 Whole exome sequencing showed a KMT2C-specific pathogenic muta

211 In all affected cases, exome sequencing showed a pathogenic homozygous nonsense

212 Parental exome sequencing showed that both parents were heterozyg

213 Recent exome sequencing studies have implicated two MYRF ICA do

214 Exome sequencing studies in 13 families revealed bi-alle

215 at there is little concordance between whole exome sequencing studies of SMZL.

216 ll lymphoma (DLBCL) patients, 2 recent whole-exome sequencing studies proposed partially overlapping

217 Exome-sequencing studies have mapped many protein-coding

218 We present the largest exome sequencing study of autism spectrum disorder (ASD)

219 Here we show via exome sequencing that mutations in ASPRV1 (aspartic pept

220 iseases, but even with whole genome or whole exome sequencing, the majority of cases remain unsolved.

221 In population-based research exome sequencing, the path from variant discovery to ret

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

223 We performed whole exome sequencing to define the mutational spectrum in te

224 ome profiling as well as mitochondrial whole-exome sequencing to detect mitochondrial alterations in

225 Applying whole-exome sequencing to eight triplicate samples, we identif

226 establish the diagnostic utility of clinical exome sequencing to evaluate the role of small genomic c

227 Using whole-exome sequencing to examine the genetic causes of immune

228 We used whole-exome sequencing to identify novel monogenic causes of s

229 ditional patients were sequenced using whole-exome sequencing to infer the clonal evolution patterns.

230 Applying exome sequencing to populations with unique genetic arch

231 We performed exome sequencing to uncover the causative gene, and func

232 volution in conditional mutant mice by whole-exome sequencing, transposon mutagenesis forward genetic

233 Exome sequencing was performed in 2 unrelated families w

234 Whole-exome sequencing was performed in children with CTRD and

235 Whole exome sequencing was performed in three affected members

236 Exome sequencing was performed on 412 probands and famil

237 Exome sequencing was performed on 599 sudden infant deat

238 Exome sequencing was performed on 62 HGT1 and 15 matched

239 Whole exome sequencing was performed on all patients.

240 Whole-exome sequencing was performed on both patients, and the

241 netic basis of docetaxel resistance in TNBC, exome sequencing was performed on matched TNBC patient-d

242 Whole-exome sequencing was used to construct phylogenetic tree

243 Exome sequencing was used to detect variants identified

244 is not routinely evaluated by gene panel or exome sequencing, was detected in ~1% of our HCM cohort.

245 Through trio exome sequencing we identified de novo mutations in SLC1

246 By whole-exome sequencing we identify EMP3, encoding epithelial m

247 rgeted next-generation sequencing, and whole-exome sequencing, we describe distinct missense and spli

248 Through exome sequencing, we find that PAPPA syndrome is caused

249 Using whole-exome sequencing, we identified 4 novel LRP6 heterozygou

250 Using exome sequencing, we identified a de novo KCNN2 frameshi

251 Upon whole exome sequencing, we identified a homozygous mutation (c

252 By whole-exome sequencing, we identified a novel frameshift varia

253 Using exome sequencing, we identified heterozygous KIF3B varia

254 Using whole exome sequencing, we identified homozygous frameshift CC

255 By exome sequencing, we identified missense mutations in TB

256 By whole-exome sequencing, we identified mutations affecting the

257 By whole-exome sequencing, we identified rare homozygous germline

258 By using clinical exome sequencing, we identified six de novo pathogenic m

259 a mixed strategy of functional candidacy and exome sequencing, we identify RRAS2 as a gene implicated

260 l cohort of 27,232 individuals who underwent exome sequencing, we implicate de novo variants in MAPK8

261 gh a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromosome

262 Clinical characterization and exome sequencing were performed on three patients, with

263 gnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approac

264 Hispanic/Latino patients, we performed whole-exome sequencing (WES) and RNA sequencing on tumor sampl

265 consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS)

266 m analyses of copy number variation to whole-exome sequencing (WES) and whole-genome sequencing (WGS)

267 The NBSeq project evaluated whole-exome sequencing (WES) as an innovative methodology for

268 Training data: Two sets of public whole-exome sequencing (WES) data for metastatic melanoma.

269 undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with un

270 We analyzed whole-exome sequencing (WES) data from 457 paired primary tumo

271 Whole-exome sequencing (WES) has facilitated the discovery of

272 We performed whole-exome sequencing (WES) in 551 individuals with CAKUT and

273 We performed whole exome sequencing (WES) in DNA samples collected from fiv

274 Whole-exome sequencing (WES) is now being used in clinical pra

275 Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and thei

276 Whole-exome sequencing (WES) of 47 tumors revealed recurrently

277 We performed whole-exome sequencing (WES) of germline DNA and 157 primary a

278 ly substitution and discovered through whole-exome sequencing (WES) of the proband.

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

280 strate its application in the 3C-Dijon whole exome sequencing (WES) study (n = 1924, nWESextremes = 5

281 netic variants associated with AgP via whole exome sequencing (WES) through a familial screening appr

282 We applied whole-exome sequencing (WES) to a national cohort of children

283 Whole exome sequencing (WES) was performed in the first family

284 Whole exome sequencing (WES) was performed.

285 Whole-exome sequencing (WES), analyses of VZV T-cell immunity,

286 We perform whole exome sequencing (WES), RNA sequencing, methylation micr

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

288 Whole exome sequencing (WES), targeted gene panel sequencing a

289 hile TMB was previously determined via whole exome sequencing (WES), there have been approaches with

290 By whole-exome sequencing (WES), we here discovered bi-allelic va

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

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

293 ide UV mutation features, we performed whole exome-sequencing (WES) to profile single nucleotide subs

294 ol used for the analysis of whole genome and exome sequencing (WGS/WES) for the Alzheimer's Disease S

295 sent a cohort of 20 individuals referred for exome sequencing who harbor pathogenic variants in the A

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

297 yield of 82.7% compared with 33.6% for whole-exome sequencing/whole-genome sequencing (n=143) giving

298 er mutation is not suspected, adopting whole-exome sequencing/whole-genome sequencing as a first-line

299 genomic landscapes of N/S HNSTs.RESULTSWhole-exome sequencing within a precision oncology program ide

300 cross-referenced expression differences with exome sequencing within our colony to pinpoint candidate