ライフサイエンスコーパス: exome

1 eraction networks with data from 4,742 tumor exomes.

2 -associated alterations in the BCa cell line exomes.

3 gation Consortium (ExAC) when used on Korean exomes.

4 anels (28 of 96 [29.2%]; P < .001) and whole exomes (5 of 18 [27.8%]; P = .02) than for chromosomal m

5 We use simulations of Exome Aggregation Consortium (ExAC) data to show that sa

6 hereas none of the >60,000 subjects from the Exome Aggregation Consortium (ExAC) was homozygous for t

7 eased variant filtering power in addition to Exome Aggregation Consortium (ExAC) when used on Korean

8 allelic frequencies of LQT6 mutations in the Exome Aggregation Consortium database, and absence of pr

9 sequence data from 60,706 people through the Exome Aggregation Consortium has prompted the analyses p

10 analysis of patients with breast cancer and Exome Aggregation Consortium reference controls.

11 ividuals belonging to different ethnicities (Exome Aggregation Consortium resource).

12 rojects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of

13 Whole-exome analysis across 3 unrelated families found no path

14 Molecular investigations included whole-exome analysis in 6 patients.

15 Whole-exome and -genome sequencing studies employed here in la

16 quencing of candidate cancer genes and whole-exome and -genome sequencing, coupled with encouraging c

17 Here we perform whole-exome and -transcriptome sequencing of 500 adult patient

18 gene expression profile, RNA sequence, whole-exome and genome sequence, and immunohistochemical analy

19 Whole exome and genome sequencing of a 19-year-old girl (P7),

20 , a novel tool for detecting CNAs from whole exome and genome sequencing.

21 el retroduplications combining high-coverage exome and low-coverage whole-genome sequencing data, uti

22 An integrative analysis of whole-exome and RNA-sequencing data was employed to extensivel

23 rmed genome-wide homozygosity mapping, whole-exome and Sanger sequencing, immunophenotyping studies,

24 ents also support scaling for larger arrays, exome and sequencing studies, allowing the Catalog to ad

25 profiling was performed, in addition to bulk exome and targeted deep-sequencing.

26 Exome and targeted sequencing identified mutations in th

27 Whole-exome and targeted sequencing of 13 individuals from 10

28 m 270 sequenced controls and from all public exome and whole genome databases, including the 1000 Gen

29 ately identifies causative variants in whole exome and whole genome sequencing datasets and provides

30 Whole-exome and whole-genome sequencing have facilitated the l

31 This is the first multi-sample whole-exome and whole-transcriptome sequencing study of NF1-as

32 we investigated clonal dynamics using whole-exome and/or targeted sequencing of 699 patients, of who

33 Through comprehensive profiling of exomes and matched transcriptomes of >200 KrasG12D-initi

34 rforming genome-wide association studies and exome array analyses on the levels of each of these 156

35 genome-wide analyses and 41 associations in exome array analyses, the majority of which have not bee

36 Further, genome-wide and exome array data for each protein have been made publicl

37 previously identified lipid loci, we used an exome array to examine protein-coding genetic variants i

38 in-modifying variants in endometriosis using exome-array genotyping in 7164 cases and 21005 controls,

39 ation of F11, we explored publicly available exome-based data obtained from >60 000 individuals belon

40 Finally, we propose a highly accurate exome-based predictive model for the MSI phenotype.

41 ell lymphomas (DLBCL), including large-scale exome capture, transcriptomes, CRISPR screens, and integ

42 In addition to the standard exome capture, we included genome-wide proximal promoter

43 genetic loci associated with heart rate from Exome Chip meta-analyses.Heart rate was measured from ei

44 viduals from 30 cohorts, genotyped using the Exome Chip.

45 We performed an exome-chip based genome-wide association studies (GWAS)

46 ariation captured using exome-sequencing and exome-chip genotyping in a genetically isolated populati

47 Applying MSMuTect to whole-exome data from 6,747 human tumors representing 20 tumor

48 Further, analysis of exome datasets prepared using the Nextera library prepar

49 Whole-exome DNA sequencing (>50 times coverage) was performed

50 T2D case/control ethnic sets of 2000 to 5000 exomes each.

51 re results from alternative methods using 21 exomes for which the disease causal variant has been pre

52 TraP analysis of 843 exomes from epilepsy family trios identifies synonymous

53 isease specificity was determined using 5090 exomes from the Sweden-Schizophrenia (SZ) Population-Bas

54 Using RNA-seq, we examined whole-exome gene and exon expression in non-psychiatric contro

55 ns in SE-regulated genes identified by whole-exome/genome sequencing may have greater significance th

56 ther with the power and mapping precision of exome-guided GWAS (EG-GWAS) versus cHD-based GWAS.

57 with complex traits are located outside the exome, it is crucial to investigate the potential pathog

58 1, we genotyped 34,174 samples using a whole-exome microarray.

59 WEMA (Whole-Exome Molecular Autopsy) and surveillance of cardiac cha

60 This is at the lower end of exome mutation rates previously estimated in parent-offs

61 De novo variants in the exome occur at a rate of 1 per individual per generation

62 ses to a recent multiethnic T2D case-control exome of 12,940 individuals that found no evidence of T2

63 We sequenced the exome of individual hematopoietic colonies derived from

64 Here, we sequenced the exomes of 244 Parkinson's patients selected from the Oxf

65 Here, we sequenced the exomes of 25 bladder cancer (BCa) cell lines and compare

66 This report examines whole exomes of affected and unaffected individuals in a multi

67 Exomes of four affected and two unaffected individuals w

68 dysplastic nevi) from melanoma, we sequenced exomes of melanocytic nevi including dysplastic nevi (n

69 Whole exome or genome sequencing identified segregating homozy

70 When investigating Mendelian disease using exome or genome sequencing, distinguishing disease-causi

71 equenced genes from publicly available whole-exome or whole-genome sequencing studies (4167 probands

72 e-wide assays that broadly analyze the tumor exomes or genomes.

73 iterative data analysis from targeted, whole-exome, or whole-genome sequencing a wellspring to identi

74 Tumor exomes provide comprehensive information on mutated, ove

75 spatial multiparametric MR imaging and whole-exome radiogenomic analysis of prostate glands with aden

76 An X-chromosome exome screen identified a missense mutation, which encod

77 patient exomes were compared to 884 control exomes selected from the UK10K datasets.

78 ith or without UVR were analyzed by RNA-seq, exome-seq, and H3K27ac ChIP-seq at 4 h and 72 h followin

79 years old at diagnosis) and performed whole-exome sequence analyses.

80 We performed whole-exome sequence analysis of individuals in a high-risk fa

81 Exome sequence analysis of three SCT patients negative f

82 re deleterious genetic variation using whole-exome sequence data from 262 case subjects with pulmonar

83 Here we analyze exome sequence data from 60,706 individuals to make geno

84 Analysis of simulated data and exome sequence data from the 1000 Genomes project demons

85 housands of humans have had their genomes or exomes sequenced, and access to the resulting data sets

86 Exome sequences account for only 2% of the genome and ma

87 Using exome sequences from 3222 British-Pakistani individuals

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

118 Exome sequencing and targeted analysis of these risk hap

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

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

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

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

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

124 Whole-exome sequencing can provide insight into the relationsh

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

126 Exome sequencing combined, where applicable, with positi

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

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

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

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

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

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

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

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

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

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

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

138 Exome sequencing excluded the involvement of other BA me

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

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

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

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

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

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

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

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

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

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

149 Whole exome sequencing identified a single mutation in SLC30A9

150 Exome sequencing identified an autosomal recessive mutat

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

152 Whole-exome sequencing identified diagnostic mutations in a su

153 Whole exome sequencing identified two COL6A5 rare variants co-

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

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

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

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

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

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

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

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

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

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

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

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

166 Whole exome sequencing in five affected family members and fiv

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

184 Exome sequencing of 291 parent-offspring trios with midl

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

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

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

188 Exome sequencing of 5 affected members identified a sing

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

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

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

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

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

194 Targeted exome sequencing of genes encoding the mitochondrial pro

195 Whole exome sequencing of HLHS fibroblasts identified deleteri

196 Moreover, exome sequencing of individuals with idiopathic SZ ident

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

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

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

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

201 Whole-exome sequencing of the remaining 424 families revealed

202 Exome sequencing of two Finnish sisters with non-syndrom

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

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

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

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

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

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

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

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

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

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

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

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

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

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

217 Whole-exome sequencing revealed a homozygous premature stop co

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

219 Whole-exome sequencing revealed homozygous missense mutations

220 Whole exome sequencing revealed KMT2A-associated Wiedemann-Ste

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

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

223 Recent exome sequencing studies of SCZ have uncovered numerous

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

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

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

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

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

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

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

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

232 Whole genome and exome sequencing usually include reads containing mitoch

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

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

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

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

237 Whole-exome sequencing was performed to identify gene variants

238 Whole-exome sequencing was performed to identify mutations in

239 Whole-exome sequencing was used to independently identify all

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

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

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

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

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

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

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

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

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

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

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

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

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

253 Whole exome sequencing, verified by Sanger sequencing, identif

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

255 Using exome sequencing, we identified 14 different novel varia

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

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

258 Using exome sequencing, we identified dominant mutations in DN

259 Using whole exome sequencing, we identified homozygous truncating va

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

280 analysis of somatic variants in >6500 cancer exomes shows that putative loss-of-function variants pre

281 genomic multiparametric MR imaging and whole-exome spatial characterization in six patients with pros

282 oil domain, so far exclusively found in fALS exomes, specifically affect the ability of SFPQ to local

283 ompared with the group who underwent regular exome testing.

284 er variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to

285 We carried out whole-exome ultra-high throughput sequencing in brain samples

286 or variant classes, most notably between the exome variant sets which suggests that future rare varia

287 and that WDR26 might be poorly annotated in exome variant-interpretation pipelines, we would anticip

288 average of 3.6 +/- 1.2 somatic mutations per exome was identified in HSPCs from patients with SCN com

289 overy Cohort and, after quality control, 228 exomes were available for analyses.

290 The PD patient exomes were compared to 884 control exomes selected from

291 pes derived from whole-genome (WGS) or whole-exome (WES) sequencing.

292 rial fibrillation and 115,142 referents; the exome-wide association studies (ExWAS) and rare variant

293 We conducted a case-control exome-wide association study to discover germline varian

294 y genes associated with RHD, we performed an exome-wide association study with 195 unresolved case su

295 We performed a case-control exome-wide collapsing analysis including 262 unrelated i

296 additional 6713 cases and 5964 controls with exome-wide genotyping.

297 ns targeted by current agents or a burden of exome-wide nonsynonymous mutations (NsM) that exceed a p

298 tify individual common variants that reached exome-wide significance using single variant analysis.

299 analysis did not identify genes that reached exome-wide significance.

300 For rare variant aggregate analysis, an exome-wide significant association (p < 2.5 x 10(-6)) wa