ライフサイエンスコーパス: exome

1 errors even in deeply sequenced genomes and exomes.

2 n a large cohort of 89 whole genomes and 973 exomes.

3 omes and the TCGA database of 10,000 somatic exomes.

4 s somatic mutations derived from 6,789 tumor exomes across 14 cancer types from The Cancer Genome Atl

5 sequenced in diagnostic laboratories and the Exome Aggregation Consortium database for replication an

6 all WNT10A missense variants reported in the Exome Aggregation Consortium database.

7 Using whole exome analysis, a novel double homozygous mutation p.L81

8 rming genome-wide association studies, whole-exome analysis, fine mapping, Mendelian randomization, a

9 nchmark with microarray, high-coverage whole-exome and -genome approaches, where the low-coverage WGS

10 Using data from 138,632 exome and genome sequences(2), we developed gene variati

11 The application of exome and genome sequencing has greatly improved the rat

12 candidate gene sequencing and most recently, exome and genome sequencing.

13 etiological genetic variation apart from the exome and regions of high linkage disequilibrium.

14 neoantigen frequencies and immune escape in exome and RNA sequencing data from 879 colon, stomach an

15 We integrated multiregion exome and RNA-sequencing (RNA-seq) data with spatial his

16 s consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological exami

17 ly reported associations between OM and PLG, exome and Sanger sequencing, RNA-sequencing of saliva an

18 ients with multiple trichilemmal cysts using exome and Sanger sequencing.

19 We performed whole-exome and shallow whole-genome sequencing to identify ge

20 s of HCC from 76 Mongolian patients by whole-exome and transcriptome sequencing.

21 Whole-exome and whole-genome sequencing are becoming financial

22 -targeted sequencing panels as well as whole-exome and whole-genome sequencing.

23 with alkylating agents, as well as in whole-exome and whole-genome-sequenced tumors identified signa

24 genesis, here we analyze whole-genome, whole-exome and/or transcriptome data from 702 neuroblastoma s

25 e genomic analysis of MCL using data from 51 exomes and 34 genomes alongside previously published exo

26 ween the gnomAD database of 120,000 germline exomes and the TCGA database of 10,000 somatic exomes.

27 alterations, mutational signatures in whole exome, and tumor mutational burden in predicting NAC res

28 The overwhelming success of exome- and genome-wide association studies in discoverin

29 minor allele frequency, <=5%) measured by an exome array were aggregated by genes and evaluated by a

30 116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cig

31 An exome-based diagnostic panel in an infant with epilepsy

32 versity across the range of P. densata using exome capture sequencing.

33 sequenced the transcriptome and developed an exome-capture assay to sequence the coding regions of th

34 We performed a GWAs using Human Core Exome-chip (Illumina) in 78 patients stroke patients tre

35 We used exome-chip data to examine the associations between comm

36 , we resequenced the genes identified in the exome cohort in 191 MCL tumors, each having clinical fol

37 nd 34 genomes alongside previously published exome cohorts.

38 lapsed MM and an additional set of 125 whole exomes collected from 51 patients.

39 that enables simultaneous detection of whole-exome copy number variations (CNVs) and point mutations

40 Exome coverage was highly concordant in direct FFPE and

41 This suggests that exome data alone will miss much of the heritability for

42 s-i.e., existing PRS cannot be computed from exome data alone.

43 d many known and novel signatures from whole exome data, but many still remain undiscovered.

44 e substantially less variable if compared to exome-derived segments.

45 Results of whole-exome DNA sequencing of primary and metastatic tumors in

46 onic non-coding regions that eluded previous exome focused strategies.

47 Its application to 10 172 tumor exomes found known and novel cancer drivers with high ti

48 we generated a ~7x nuclear genome and a ~38x exome from H. latidens using shotgun and target-capture

49 Exomes from 8,574 individuals referred for cardiac cathe

50 well for PGx studies, is efficient for whole exome/genome association analysis and provides better po

51 itory with renal agenesis and analyzed their exome/genome data.

52 Here, by whole-exome/genome sequencing we identify heterozygous, autoso

53 riants and small insertions and deletions in exomes has been understudied.

54 alysis of somatic mutations from tumor whole exomes has fueled discovery of novel cancer driver genes

55 Whole-genome copy-number and whole-exome mutational profiling of multiple regions per tumor

56 oncurrently measures genomic copy number and exome mutations from archival cryostored plasma samples.

57 diversity, we used whole-genome (n = 61) and exome (n = 21) sequencing (74% cMCL, 26% nnMCL) combined

58 ing targeted (n = 1914 microbiopsies), whole-exome (n = 655), and whole-genome (n = 88) sequencing.

59 Forty-one advanced HCC and 156 whole exome of Barcelona Clinic Liver Cancer (BCLC) 0/A were a

60 f-target effects, we determined the complete exome of the BCBL-1Cas9 and BC-1Cas9 cells.

61 of 73 HNF1A missense variants identified in exomes of 12,940 individuals.

62 Exomes of 2 siblings with IMD identified a novel heteroz

63 We sequenced and analyzed the exomes of 6,716 individuals from a Southwestern American

64 e I error and provide decent power for whole exome or genome analysis in Pharmacogenetics (PGx) studi

65 sive carcinomas from 18 patients using whole exome or targeted sequencing.

66 nts and their relatives subjected to genome, exome, or capillary sequencing.

67 and to newly generated matched scRNA-seq and exome-seq data from 32 human dermal fibroblast lines, id

68 the published data as a backdrop to a whole-exome sequence(WES)-based characterization of MITF(E318K

69 We leveraged exome-sequence and single nucleotide polymorphism (SNP)

70 Here we describe the release of exome-sequence data for the first 49,960 study participa

71 orders, we integrate healthcare and research exome-sequence data from 31,058 parent-offspring trios o

72 r signatures of natural selection in 122,678 exome sequenced participants from six ethnic groups in t

73 Expanded analysis on tumor only exome sequenced samples yielded similar correlation (R =

74 tracted from blood of participants and whole-exome sequenced.

75 If available, normal tissue was also exome sequenced.

76 ) variants against 4264 phenotypes in 49,960 exome-sequenced individuals from the UK Biobank and 1934

77 nucleotide variants (SNVs) identified in the exome sequences across all samples.

78 s, electronic health records, familial whole-exome sequences and neurodevelopmental gene expression p

79 We analyzed exome sequences from 35 416 individuals in the UK Bioban

80 Rare CASR variants were identified in whole-exome sequences from 51,289 de-identified individuals in

81 Exome sequences from the first 49,960 participants highl

82 ation and joint analysis of large numbers of exome sequences has recently made it possible to derive

83 mutations from 4,645 whole-genome and 19,184 exome sequences that encompass most types of cancer.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

117 Whole exome sequencing and autozygosity mapping unveiled a nov

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

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

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

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

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

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

124 Using exome sequencing and international matchmaking, we ident

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

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

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

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

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

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

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

132 Whole-exome sequencing at multiple time points reveal acquisit

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

151 Whole exome sequencing findings were validated, and reported m

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

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

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

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

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

157 Exome sequencing has revealed significant heterogeneity

158 Exome sequencing has transformed genetic diagnosis after

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

160 Exome sequencing identified 5 additional SOS1 variants w

161 Whole-exome sequencing identified a heterozygous nonsynonymous

162 Exome sequencing identified a homozygous mutation at an

163 Whole-exome sequencing identified hemi- and heterozygous varia

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

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

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

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

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

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

170 Whole exome sequencing in a further 37 uncharacterized familie

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

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

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

174 Exome sequencing in diabetes presents a diagnostic chall

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

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

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

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

179 We undertook exome sequencing in three unrelated families of Caucasia

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

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

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

183 Whole-exome sequencing of 159 prospectively resected pituitary

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

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

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

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

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

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

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

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

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

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

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

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

196 Exome sequencing of infertile males revealed three heter

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

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

199 Exome sequencing of siblings with severe neurodevelopmen

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

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

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

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

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

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

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

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

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

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

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

211 Whole exome sequencing revealed a rare shared heterozygous mis

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

213 Whole-exome sequencing revealed no other variants in previousl

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

215 Exome sequencing revealed that each affected person was

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

217 Whole-exome sequencing revealed three different homozygous var

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

219 Recent exome sequencing studies have implicated two MYRF ICA do

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

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

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

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

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

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

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

227 Applying exome sequencing to populations with unique genetic arch

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

229 Exome sequencing was performed in 2 unrelated families w

230 Exome sequencing was performed on 599 sudden infant deat

231 Exome sequencing was performed on 62 HGT1 and 15 matched

232 Whole exome sequencing was performed on all patients.

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

234 Whole-exome sequencing was used to construct phylogenetic tree

235 Exome sequencing was used to detect variants identified

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

254 Using exome sequencing, we identified heterozygous KIF3B varia

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

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

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

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

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

260 ncreasing abundance given expanding clinical exome sequencing.

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

262 3 (18.8%) by high-throughput panel or pooled exome sequencing.

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

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

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

266 in sequencing requirement compared to whole exome sequencing.

267 age study design using genotyping arrays and exome sequencing.

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

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

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

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

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

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

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

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

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

277 Exome-sequencing studies have mapped many protein-coding

278 identify thousands of mutations in the human exome, some of which are disease associated.

279 sease, making them good candidates for whole-exome studies.

280 rare VTE risk variants, we performed a whole-exome study of 393 individuals with unprovoked VTE and 6

281 the JCI, Ben-Shlomo et al. performed a whole-exome study of pituitary adenomas.

282 Here, using whole-exome, targeted capture and RNA-sequencing, we report re

283 ct offering within this spectrum are focused exomes, targeting ~5,000 genes know to be implicated in

284 Employing whole-genome, exome, transcriptome, and methylation sequencing of 83 c

285 terms in 846 individuals with existing whole-exome trio data and assessed associated clinical feature

286 al power in our rare-disease cohort (N = 104 exomes), we utilized extreme-phenotype cohorting, functi

287 Genome-wide association studies, followed by exome-wide analyses, led to identification of genetic ri

288 We then extended our exome-wide analysis and identified rare protein-altering

289 Our study presents the first large-scale, exome-wide analysis of rare variants in AMD.

290 iagnostic screen for pathogenic variants and exome-wide and gene-set rare variant collapsing analyses

291 tion test, SAIGE-GENE, that is applicable to exome-wide and genome-wide region-based analysis for hun

292 Gene set enrichment analysis of exome-wide association data identified increased adaptiv

293 alue as a tool that can be used to interpret exome-wide association studies, we overlapped mantis-ml

294 Herein, we performed an exome-wide association study of systemic sclerosis in a

295 Among 2,772 SCZ probands, exome-wide DNM burden remained modest.

296 nflated type I error rates (90 times that of exome-wide sequencing alpha = 2.5 x 10(-6)).

297 For this exome-wide sequencing study, study participants were ide

298 No single gene surpassed exome-wide significance; however, 16 genes were recurren

299 An exome-wide, gene-based burden analysis was performed to

300 e; 6.8% in cases versus 5.9% in controls) or exome-wide.