ライフサイエンスコーパス: exome sequencing

1 er, lung and gastrointestinal tract by whole exome sequencing.

2 raphy, magnetic resonance imaging, and whole exome sequencing.

3 ate the diagnostic and research use of whole exome sequencing.

4 ormed using whole-genome sequencing or whole-exome sequencing.

5 despite many of them being screened by whole exome sequencing.

6 unohistochemistry, RNA sequencing, and whole-exome sequencing.

7 f normal and abnormal regions by using whole-exome sequencing.

8 tiplex family with U-HAE and performed whole-exome sequencing.

9 ithout known mutations using data from whole-exome sequencing.

10 ion and mutational load as assessed by whole exome sequencing.

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

12 e, genome-wide association, and whole genome/exome sequencing.

13 2 countries were investigated by using whole-exome sequencing.

14 a deleterious EBF3 variant detected by whole-exome sequencing.

15 GWAS) of common genetic variants and through exome sequencing.

16 pIBD and 106 control samples underwent whole-exome sequencing.

17 fDNA, sufficient for standard coverage whole-exome sequencing.

18 ased on the off-target reads from deep whole-exome sequencing.

19 cordance of cfDNA and metastatic tumor whole-exome sequencing.

20 d using haplotype sharing analysis and whole-exome sequencing.

21 .0 (2.2) days for infants undergoing proband exome sequencing, 31.5 (3.9) days for trio exome, and 22

22 ncing of positional candidate genes and with exome sequencing a homozygous missense substitution of l

23 3-generation family, we identified by whole exome sequencing a novel mutation in CDH2 (c.686A>C, p.G

24 By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ec

25 sing combined homozygosity mapping and whole exome sequencing, a genetically isolated family was foun

26 Targeted exome sequencing also proved to be an efficient and cost

27 Whole-exome sequencing analysis identified a novel homozygous

28 A trio-based whole exome sequencing analysis in the first family detected a

29 Exome-sequencing analysis of DNA from three affected sib

30 luding 436 cases and 169 controls with whole exome sequencing and an additional 6713 cases and 5964 c

31 ing random germ line mutations in mice using exome sequencing and bioinformatic annotation to priorit

32 tic techniques on data generated using whole-exome sequencing and copy number profiling of primary an

33 To address this, we performed exome sequencing and copy number variant analysis on 151

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

35 Using whole-exome sequencing and in silico neoantigen prediction, we

36 s study, we performed whole-genome and whole-exome sequencing and measured serum levels of 25 peptide

37 METHODS AND We performed whole-exome sequencing and nucleotide-level coverage analysis

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

39 er 11 (CARD11) was identified by using whole-exome sequencing and segregated perfectly to family memb

40 ently observed ASD risk factor detectable by exome sequencing and suggests that associated changes in

41 Exome sequencing and targeted analysis of these risk hap

42 Moreover, whole exome sequencing and targeted sequencing of the major pa

43 Using whole-exome sequencing and transcriptional profiling, we found

44 e performed an integrative analysis of whole-exome sequencing and transcriptome sequencing in a cohor

45 Whole exome sequencing and whole genome sequencing (WGS) are e

46 Whole-exome sequencing and whole-genome sequencing identified

47 is of nonsynonymous variation captured using exome-sequencing and exome-chip genotyping in a genetica

48 ant IRF8 alleles were identified by means of exome sequencing, and their function was tested by using

49 ficantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory

50 enomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or li

51 -center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly

52 ltiple molecular techniques, including whole exome sequencing, array comparative genomic hybridizatio

53 Here, we combined whole-exome sequencing, array-based genotyping, and linkage an

54 e of several disease-causing variants, using exome sequencing as a first-line diagnostic approach in

55 Herein, with scWES and matched bulk whole-exome sequencing (bulk WES) on two colorectal cancer (CR

56 Whole-exome sequencing can provide insight into the relationsh

57 Results For six of 12 patients in the exome sequencing cohort, mutations found in the TMN spec

58 Exome sequencing combined, where applicable, with positi

59 We utilized whole exome sequencing, copy number algorithm evaluation, and

60 rced DNA demonstrated strikingly lower whole-exome sequencing coverage than DNA from fresh blood draw

61 and nail manifestations, we scrutinized the exome sequencing data for additional potentially deleter

62 mal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease case

63 We analyzed whole exome sequencing data from 12 MPNST and SNP arrays for a

64 We analysed whole-exome sequencing data from 5777 solid tumours, spanning

65 In exome sequencing data from a sister population, the Nuna

66 nge, we performed in-depth analysis of whole-exome sequencing data from cell lines generated by a bar

67 utations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with ASD, and con

68 ation of PVP for the interpretation of whole exome sequencing data in patients suffering from congeni

69 pplication in a more clinical context, where exome sequencing data is abundant and the discovery of r

70 Exome sequencing data of 24 MSI colorectal cancers revea

71 Exome sequencing data of families were filtered for rare

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

73 Pathogenic variants in the whole exome sequencing data were identified using established

74 keywords: "whole genome", "transcriptome or exome sequencing data", and "genome-wide genotyping arra

75 when integrating whole-genome CNVs and whole-exome sequencing data.

76 Integrative analysis of whole-genome/exome-sequencing data has been challenging, especially f

77 n the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no prev

78 Whole-exome sequencing detected a de novo variant (S541Y) of C

79 s and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutation.

80 In the third family, whole exome sequencing established compound heterozygosity for

81 Exome sequencing excluded the involvement of other BA me

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

83 rectal adenocarcinoma were chosen for whole-exome sequencing followed by mutation detection analysis

84 We performed whole-exome sequencing, followed by Sanger confirmation, asses

85 We performed whole exome sequencing for an individual with clinical feature

86 o identified in gene-based analysis of whole exome sequencing for early onset myocardial infarction.

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

88 al hereditary motor neuropathy, we performed exome sequencing for two affected individuals and two un

89 ugs as well as genomic data, including whole-exome sequencing, gene and miRNA transcripts, DNA copy n

90 More recently, whole exome sequencing has associated pathogenic genetic varia

91 Exome sequencing has readily enabled the discovery of th

92 More-recent data that are based on whole-exome sequencing have confirmed this heterogeneity and s

93 Gene panel and exome sequencing have revealed a high rate of molecular

94 Recent innovations in tumour exome sequencing have signalled the new era of personali

95 amily, homozygosity mapping coupled to whole exome sequencing identified a homozygous nucleotide subs

96 Whole exome sequencing identified a missense mutation in FLNA

97 re: 4.64; theta=0); in this region, targeted exome sequencing identified a novel heterozygous mutatio

98 Whole exome sequencing identified a single mutation in SLC30A9

99 Exome sequencing identified an autosomal recessive mutat

100 bers from one family with familial PA, whole-exome sequencing identified cosegregation of the PA phen

101 Exome sequencing identified de novo heterozygous missens

102 Whole-exome sequencing identified diagnostic mutations in a su

103 generation phenotype in Reep6-/- mice, whole exome sequencing identified homozygous REEP6-E75K mutati

104 Whole exome sequencing identified two COL6A5 rare variants co-

105 rformed next-generation sequencing and whole-exome sequencing, identifying new driver genes while als

106 racted from brain tissue in all cases before exome sequencing (Illumina Nextera 62 Mb capture) with v

107 Here we present the results of exome sequencing in 121 large consanguineous Pakistani I

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

109 We performed homozygosity mapping and whole-exome sequencing in 5 probands and 2 unaffected family m

110 Whole-exome sequencing in 997 subjects failed to identify any

111 By using whole-exome sequencing in a further Palestinian-Jordanian SPG2

112 We performed exome sequencing in a large family affected by an autoso

113 Using exome sequencing in a multiplex family and three simplex

114 We performed exome sequencing in a patient and his unrelated, unaffec

115 riant in Kir2.1 (Gly52Val) revealed by whole-exome sequencing in a patient presenting with symptoms o

116 We performed exome sequencing in a patient with NDM and autoimmune ly

117 Using whole-exome sequencing in a remotely consanguineous patient fr

118 Homozygosity mapping and whole-exome sequencing in an IO IBD patient and subsequent seq

119 etic variants on atherosclerosis using whole exome sequencing in cases and controls from the autopsy

120 ovide an overview of the diagnostic yield of exome sequencing in consanguineous families.

121 ine the diagnostic yield and use of clinical exome sequencing in critically ill infants.

122 Whole exome sequencing in five affected family members and fiv

123 Whole-exome sequencing in five families affected by mild to se

124 Using whole-exome sequencing in four probands with undiagnosed skin

125 gh genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families pr

126 We performed whole exome sequencing in individuals from a family with autos

127 We performed whole-exome sequencing in individuals with sensorineural heari

128 Whole-exome sequencing in MF5L12 identified an Actr2 gene poin

129 Our results demonstrate that exome sequencing in multigenerational families with BD i

130 control of human growth and demonstrate that exome sequencing in OGID has a high diagnostic yield.

131 Through whole-exome sequencing in subjects with Joubert syndrome, we i

132 firming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoenceph

133 g linkage and haplotype analyses followed by exome sequencing in the Erasmus Rucphen Family (ERF) stu

134 performed in-depth medical examinations and exome sequencing in the homozygous individuals.

135 t mutations revealed by multi-gene panel and exome sequencing in the remaining 43% (1% were found to

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

137 (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a fi

138 Clinical indications for exome sequencing included a range of medical concerns.

139 tients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in

140 le and rapid ethnicity annotation from whole exome sequencing individual's data, validated it on 1000

141 Exome sequencing is a powerful tool for the diagnostic e

142 g MHC isolation, peptide identification, and exome sequencing is an effective platform to uncover tum

143 The assessments of exome sequencing, methylation profiling, metabolome prof

144 had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, a

145 Forty-six PMMs underwent targeted exome sequencing of 111 cancer-associated genes.

146 ng gene regions on HIV-1 progression through exome sequencing of 1327 individuals.

147 cleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanese pati

148 entify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients.

149 Exome sequencing of 291 parent-offspring trios with midl

150 Whole-exome sequencing of 33 unrelated patients with EoE revea

151 Here, we report the targeted exome sequencing of 330 genes, including genes known to

152 We then performed whole-exome sequencing of 42 unrelated children with acute myo

153 We performed whole-exome sequencing of 43 unrelated probands affected by se

154 Exome sequencing of 5 affected members identified a sing

155 l, 100 patients were evaluated using focused exome sequencing of 6100 genes.

156 Whole-exome sequencing of a breast cancer from a c.104T>C carr

157 DZ domain-containing 2 (MAGI2) through whole-exome sequencing of a deeply phenotyped cohort of patien

158 Through whole exome sequencing of a family of three affected siblings

159 Here, we performed whole-exome sequencing of a patient with disseminated Mycobact

160 Here, exome sequencing of a single cohort of 2,871 CHD proband

161 Whole-exome sequencing of cell-free DNA (cfDNA) could enable c

162 Targeted exome sequencing of genes encoding the mitochondrial pro

163 Whole exome sequencing of HLHS fibroblasts identified deleteri

164 Autozygosity mapping in families and exome sequencing of index patients were performed in 152

165 Moreover, exome sequencing of individuals with idiopathic SZ ident

166 Here, we analyze whole exome sequencing of matched pre- and post-neoadjuvant ci

167 Here we conduct exome sequencing of nine non-serous epithelial ovarian t

168 These mutations can be best identified by exome sequencing of parent-offspring trios.

169 Here, we conducted whole-exome sequencing of patients with optic atrophy and othe

170 However, exome sequencing of PP;Trp53 KO melanomas failed to reve

171 Exome sequencing of Tet2(-/-) tumours reveals accumulati

172 Whole-exome sequencing of the remaining 424 families revealed

173 Exome sequencing of two Finnish sisters with non-syndrom

174 Here we conducted a targeted exome-sequencing of 63 trios of Chinese epilepsy familie

175 We performed whole-exome sequencing on 10 relapsing individuals and 11 cont

176 cohort study, we performed multiregion whole-exome sequencing on 100 early-stage NSCLC tumors that ha

177 We performed whole-exome sequencing on individuals with histologically conf

178 We performed whole-exome sequencing on matched samples of breast cancer and

179 Methods We performed whole-exome sequencing on pre- and post-ASCT samples from 12 p

180 We performed whole exome sequencing on six out of nine members in a three-g

181 ndscape of non-DS-AMKL, we performed RNA and exome sequencing on specimens from 99 patients (75 pedia

182 We then carried out whole exome sequencing on the remaining negative cases includi

183 Whole-exome sequencing or whole-genome sequencing was used to

184 o a clinical diagnostic laboratory for whole-exome sequencing; our goal was to determine the frequenc

185 Here, we report results of whole exome sequencing performed on members from a single mult

186 tia, such as the 1000 genomes project, NHLBI Exome Sequencing Project and the Exome Aggregation Conso

187 utations in RGS2 identified in various human exome sequencing projects and evaluated their ability to

188 alleles emerging from whole-genome or whole-exome sequencing projects as 'drivers' or 'passengers'.

189 variation catalogued in the 1000 Genomes and Exome Sequencing Projects to a spectrum of populations r

190 Whole-exome sequencing provided a diagnosis in 22 of 92 patien

191 Whole-exome sequencing reached a read depth of 10x across 90%

192 ailure, we estimated GSTM1 copy number using exome sequencing reads in the Atherosclerosis Risk in Co

193 Combination of Sanger and Exome sequencing revealed 38 alleles, including 22 novel

194 The exome sequencing revealed a heterozygous mutation, c.770

195 Exome sequencing revealed a heterozygous, nonconservativ

196 Whole-exome sequencing revealed a homozygous 2 bp deletion, n.

197 Whole-exome sequencing revealed a homozygous premature stop co

198 Critical trio exome sequencing revealed a molecular diagnosis in 32 of

199 Whole-exome sequencing revealed compound heterozygous CLDN10 s

200 Exome sequencing revealed compound heterozygous mutation

201 In addition, exome sequencing revealed de novo and recessive variants

202 Whole-exome sequencing revealed homozygous missense and compou

203 Whole-exome sequencing revealed homozygous missense mutations

204 Whole exome sequencing revealed KMT2A-associated Wiedemann-Ste

205 Although exome sequencing revealed several of the KDSR mutations,

206 Exome sequencing revealed that dysplastic nevi harbored

207 Whole-exome sequencing revealed that the Kras(mut) allele was

208 tions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide copy-

209 The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data o

210 Recently single-cell whole-exome sequencing (scWES) has deeply expanded and sharpen

211 Recent exome sequencing studies identified filamin C (FLNC) as

212 Recent exome sequencing studies of SCZ have uncovered numerous

213 zophrenia (SZ) Population-Based Case-Control Exome Sequencing study.

214 e clinical study involving multiregion whole-exome sequencing suggest that driver mutations in cancer

215 ermline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or R

216 ssociation studies, whole genome studies, or exome sequencing technologies.

217 Given the accessibility of exome sequencing, this problem has thus far been address

218 average false genotype rate than using whole-exome sequencing to assess more than 300 genes in all pa

219 METHODS AND We used whole exome sequencing to detect pathogenic variants in 55 pat

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

221 In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adu

222 Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.40

223 Here, we have performed whole exome sequencing to identify recessive causes of SRNS.

224 individuals with idiopathic DCM will undergo exome sequencing to identify relevant variants in genes

225 The aim of this study was to use whole-exome sequencing to improve understanding of the genetic

226 We used whole-exome sequencing to investigate the underlying cause in

227 uence on patient outcomes, we analyzed whole exome sequencing tumor data for 333 patients from Myelom

228 ns for testing, diagnostic yield of clinical exome sequencing, turnaround time, molecular findings, p

229 Exome sequencing types included proband exome, trio exom

230 Here, whole exome sequencing uncovered a novel molecular basis for i

231 Whole genome and exome sequencing usually include reads containing mitoch

232 Whole exome sequencing, verified by Sanger sequencing, identif

233 lecular karyotyping, the diagnostic yield of exome sequencing was 60% (77/129).

234 To map the genes associated with PNTM, whole-exome sequencing was conducted in 12 PNTM families and 5

235 ar diagnoses in 4.9% of cases in which whole-exome sequencing was informative.

236 Clinical exome sequencing was performed for 278 unrelated infants

237 Research-based exome sequencing was performed for patients without a pr

238 METHODS AND Whole exome sequencing was performed in 2 cousins in this fami

239 es with BD could be associated with disease, exome sequencing was performed in multigenerational fami

240 vel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous f

241 METHODS AND Whole exome sequencing was performed on 2 cousins with ARVC.

242 Whole exome sequencing was performed on 62 sIBM patients.

243 Whole-exome sequencing was performed on tumor DNA extracted fr

244 and clinically heterogeneous disease, whole-exome sequencing was performed on tumor/normal pairs fro

245 Whole-exome sequencing was performed to identify gene variants

246 Whole-exome sequencing was performed to identify mutations in

247 Whole-exome sequencing was used to independently identify all

248 eles in 349 brains (23.9% of 1461 undergoing exome sequencing), we saw an association between rare va

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

250 Using trio whole-exome sequencing, we have identified de novo heterozygou

251 Using whole-exome sequencing, we have shown that this condition is a

252 Using exome sequencing, we identified 14 different novel varia

253 By whole-exome sequencing, we identified a heterozygous truncatin

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

255 By using whole-exome sequencing, we identified a novel missense mutatio

256 Using exome sequencing, we identified dominant mutations in DN

257 By whole-exome sequencing, we identified homozygous missense muta

258 Using whole exome sequencing, we identified homozygous truncating va

259 Using whole exome sequencing, we identified in a child with congenit

260 Using whole-exome sequencing, we identified rare homozygous missense

261 Using whole-exome sequencing, we identified two frameshift mutations

262 ng a combination of homozygozity mapping and exome sequencing, we mapped this phenotype to deleteriou

263 Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obes

264 Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-functi

265 Using whole-exome sequencing, we validate the concordance of clonal

266 Using high-coverage exome-sequencing, we studied the exonic variants in 1265

267 Linkage analysis and whole exome sequencing were performed in consanguineous and no

268 ct in the group that underwent critical trio exome sequencing were significantly different compared w

269 Here, we performed whole exome sequencing (WES) and canine high-density (cHD) SNP

270 Whole-exome sequencing (WES) and de novo variant detection hav

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

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

273 enetic susceptibility to leprosy,while whole exome sequencing (WES) approach has not yet been applied

274 an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data to identify rare and intrage

275 e benefits of whole-genome rather than whole-exome sequencing (WES) for identifying the genetic cause

276 The utility of whole-exome sequencing (WES) for the diagnosis and management

277 Recently whole exome sequencing (WES) has become primary strategy for s

278 Whole-exome sequencing (WES) has been successful in identifyin

279 Whole-exome sequencing (WES) has increasingly enabled new path

280 In these six affected individuals, whole-exome sequencing (WES) identified biallelic mutations in

281 We performed whole exome sequencing (WES) in a consanguineous family with T

282 Using trio whole-exome sequencing (WES) in an sbds-negative SDS family an

283 Optimal use of whole-exome sequencing (WES) in the pediatric setting requires

284 Whole Exome Sequencing (WES) is a powerful clinical diagnostic

285 Whole exome sequencing (WES) is widely utilized both in transl

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

287 h allelic fractions down to 0.03% in a whole exome sequencing (WES) study with a background error rat

288 We used whole exome sequencing (WES) to identify mutations present in

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

290 fy and validate novel HSCR genes using whole exome sequencing (WES), burden tests, in silico predicti

291 at might contribute to nsCPO risk, via whole-exome sequencing (WES), in multiply affected Central Eur

292 We performed whole exome sequencing (WES), RNA sequencing (RNA-seq), and T

293 cting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with CAK

294 d to increased utilization of clinical whole-exome sequencing (WES).

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

296 tility-related beta-defensin genes and whole exome sequencing (WES).

297 ctive for a variety of data types, including exome sequencing, whole-genome sequencing, RNA-seq, ChIP

298 were molecularly diagnosed in 39 (48.1%) by exome sequencing, with implications for recurrence risk

299 achieved in 102 infants (36.7%) by clinical exome sequencing, with relatively low yield for cardiova

300 Modern disease studies rely heavily on exome sequencing, yet an adequate method for the detecti