ライフサイエンスコーパス: resequence

1 13221869 from this cohort, the CAV2 gene was resequenced.

2 and untranslated regions of these 3 genes by resequencing.

3 g gene expression (RNA-seq), exome or genome resequencing.

4 sity within these strains using whole-genome resequencing.

5 ation offers a cost-effective alternative to resequencing.

6 covery and genotyping in long-range targeted resequencing.

7 s the in silico analyses behind whole-genome resequencing.

8 cy of a dataset and alignment strategy after resequencing.

9 polymorphisms that are fully validated with resequencing.

10 ileptic encephalopathies to undergo targeted resequencing.

11 repertoire of variation in NLRP1 by deep DNA resequencing.

12 n neurodevelopment were investigated by exon resequencing.

13 on experiments were analyzed by whole genome resequencing.

14 the same patients for whom DNA was used for resequencing.

15 types using array hybridization and targeted resequencing.

16 rd variant calling pipeline for whole-genome resequencing.

17 ssociation approach complemented by targeted resequencing.

18 nd evaluated the best candidate using genome resequencing.

19 We resequenced 11 genes (AGT, CYP11B1, CYP17A1, HSD11B2, NR

20 Resequencing 129 Caucasian derived CRCs confirmed a 15-g

21 assess the distribution of mutation ages, we resequenced 15,336 genes in 6,515 individuals of Europea

22 We resequenced 199 Brassica rapa and 119 Brassica oleracea

23 lation levels in common conditions, and then resequence 24 autotetraploid individuals from three popu

24 We resequenced 26 candidate genes in 4,716 additional cases

25 We resequenced 28 genomes from experimentally evolved S. ce

26 e potential of the method, we simultaneously resequenced 33 clinically informative cancer genes in ei

27 understand the mechanism of their action, we resequenced a 455-kb region in type 1 diabetic patients

28 (minor allele frequency <5%) variants, using resequencing all 13 exons and exon-intron boundaries of

29 lotype analysis and targeted next-generation resequencing allowed us to identify a mutation in the KI

30 Resequencing analysis identified seven single nucleotide

31 Finally, genome resequencing analysis indicated that (1) the deletion in

32 High-throughput resequencing analysis of selected mutants resolved speci

33 A new resequencing analysis of weedy rice (Oryza sativa L.) bi

34 DNA resequencing analysis workflow (DRAW) automates the work

35 e describe Karyogene, an integrated targeted resequencing/analytical platform that detects nucleotide

36 We resequenced and analyzed 994 pearl millet lines, enablin

37 We also resequenced and analyzed the genomes of six CHO cell lin

38 rsaria chlorella virus 1 (PBCV-1) genome was resequenced and annotated to correct errors in the origi

39 To address these questions, we resequenced and reassembled the genome of H. dujardini,

40 Resequencing and analyzing 31 whole genomes of O. sinens

41 Genomic resequencing and complementation tests were used to iden

42 Using a combination of whole-genome resequencing and high-density genotyping arrays, genome-

43 Using whole-exome resequencing and high-throughput mutation analysis, we i

44 mbined homozygosity mapping with whole-exome resequencing and identified an ARHGDIA mutation that cau

45 After resequencing and imputation, we identified 2 independent

46 tly been performed, but required both genome resequencing and MethylC-seq datasets.

47 whole-genome de novo sequencing relative to resequencing and provide valuable genetic resources that

48 rom a total of 163,782 SNPs derived from DNA resequencing and RNA-sequencing of 41 groundnut accessio

49 variants in SORL1 were detected by targeted resequencing and validated by genotyping in additional f

50 nd mining of the variants from both targeted resequencing and whole exome sequencing.

51 We resequenced ANGPTL3 in 4 members of 3 kindreds originall

52 We have developed a targeted resequencing approach referred to as Oligonucleotide-Sel

53 Here we use a genome resequencing approach to investigate patterns of populat

54 We used a genome resequencing approach to resolve the evolutionary histor

55 We use exon capture and resequencing approaches to identify single-nucleotide po

56 the use of accessible and scalable targeted resequencing approaches.

57 to create customized and highly multiplexed resequencing assays of target regions across the human g

58 on of positional cloning, population genomic resequencing, association mapping and developmental data

59 90-109 years; the 90+ Study) were genotyped/resequenced at the DRD4 gene and compared with a Europea

60 b-nosed monkey (Rhinopithecus roxellana) and resequencing at 30x coverage of three related species (R

61 igh, which has limited their use thus far to resequencing bacteria.

62 from a larger library, colony-purified, and resequenced both individually using Sanger sequencing an

63 Here, we use long read length ultra-deep resequencing-by-synthesis to interrogate regions of the

64 lling mutations from large cohorts of deeply resequenced cancer genes.

65 Circular resequencing (CirSeq) is a novel technique for efficient

66 extended to deal with missing phenotypes and resequence data with rare variants, offering a feasible

67 To efficiently facilitate large-scale NGS resequencing data analysis of genomic variations, we hav

68 thods to measure coancestry and fitness from resequencing data and use them in population management.

69 S data easily, we have also developed an NGS resequencing data browser within SoyKB to provide easy a

70 rred fine-scale genetic maps from population resequencing data for two bird species: the zebra finch,

71 enomics to S. mansoni based on high-coverage resequencing data from 10 global isolates and an isolate

72 investigate these processes using high-depth resequencing data from 31 maize landraces spanning the p

73 We used whole-genome resequencing data from 34 butterflies to detect duplicat

74 on bean (Phaseolus vulgaris) and genome-wide resequencing data from both wild and domesticated access

75 nce genome for the rabbit and compared it to resequencing data from populations of wild and domestic

76 We used next-generation resequencing data from this experiment to examine genome

77 Using targeted resequencing data from tumor specimens with orthogonally

78 s model using whole genome and transcriptome resequencing data in the guppy, a model for sexual selec

79 In this study we compared whole-genome resequencing data of Atlantic herring populations from b

80 n available, and are also applicable to deep-resequencing data of GWAS loci.

81 We analyzed the resequencing data of Sus cebifrons, a highly endangered

82 based neutrality tests from the low-coverage resequencing data of the 1000 Genomes Project, and deter

83 Analysis of genome resequencing data revealed associations of several genom

84 We use these resequencing data to establish marker trait associations

85 We then used genome resequencing data to evaluate whether genomic features (

86 or generating and processing next-generation resequencing data, discuss the influence of errors and b

87 Strikingly, in 4 of 15 regions with resequencing data, multiple disjoint NCO tracts cluster

88 forward simulation, guided by empirical deep resequencing data, to model the genetic architecture of

89 Using whole-genome population resequencing data, we estimated the population-scaled re

90 By applying the method on 35-fold human resequencing data, we showed that in comparison to the s

91 ocations at base-pair resolution in targeted resequencing data.

92 e applied to whole exome, genome or targeted resequencing data.

93 rt indels and SNPs, as demonstrated in human resequencing data.

94 PyroHMMvar to analyze one human whole genome resequencing dataset, and the results confirm that PyroH

95 t copy number variation analyses on multiple resequencing datasets in a user-friendly and seamless wa

96 elMINER to identify indels from whole genome resequencing datasets using paired-end reads.

97 Evolve and resequence (E&R) experiments use experimental evolution

98 The growing number of genome resequencing efforts and genome-wide association studies

99 Resequencing efforts are uncovering the extent of geneti

100 ancer locus and further confirms that cancer resequencing efforts should not ignore the study of nonc

101 mains challenging, especially for 'targeted' resequencing efforts.

102 Resequencing endeavors to find low-frequency variants im

103 tly its role in disease, we conducted a deep resequencing experiment of ADIPOQ in 14,002 subjects, in

104 Resequencing, expression analysis, and biochemical exper

105 Although whole-exome resequencing facilitates the identification of disease g

106 Genome resequencing found 5383 common SNPs (frequency >/= 0.05)

107 erent set of eight highly inbred, completely resequenced founders.

108 e Drosophila pseudoobscura subclade using 18 resequenced genomes aligned to the reference genome.

109 the neotropical Heliconius butterflies using resequenced genomes from 58 wild-caught individuals of H

110 Alignment of more than 50 resequenced genomes from diverse sorghum genotypes to th

111 duals of Heliconius melpomene and another 21 resequenced genomes representing 11 related species.

112 ion in tumor using the same samples in which resequencing had been performed, followed by functional

113 Genome resequencing identified 17 confirmed mutations unique to

114 Genome resequencing identified 29 variants between the nine sub

115 In-depth resequencing identified 404 FKBP5 single nucleotide poly

116 Targeted resequencing identified a single missense mutation (c.68

117 segregant analysis followed by whole genome resequencing identified three linked genes (doc-1, doc-2

118 Now, we performed detailed resequencing, imputation and genotyping in this region.

119 ion of a set of 26 candidate genes that were resequenced in 132 independent nsCPO cases and 623 indep

120 The gene was resequenced in 20 individuals.

121 The TLR8 gene was resequenced in 288 AR patients from Malmo and the data w

122 ncoding the major cardiac K(+) channels were resequenced in 80 AF probands.

123 Resequencing in 1107 samples from patients with myelopro

124 nophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD.

125 Sex-specific genome resequencing in a recent species radiation, the An. gamb

126 bining homozygosity mapping with whole-exome resequencing in a sibling pair with an NPHP-related cili

127 ed genome-wide analysis followed by targeted resequencing in a Turkish consanguineous multiplex famil

128 Here, we conduct whole-genome resequencing in Capsella bursa-pastoris, a recently form

129 tion of an ancestral proband by whole-genome resequencing in combination with high-density SNP genoty

130 nable cost-effective multiplex targeted gene resequencing in large cohorts.

131 Resequencing in larger, multiethnic population samples a

132 e combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency

133 Using whole-exome and candidate-gene Sanger resequencing in PCD-affected families afflicted with com

134 We performed exome and targeted resequencing in samples obtained from 586 additional pat

135 ation of whole-exome sequencing and targeted resequencing in three ET families.

136 ethod enabling ultra-low-cost candidate gene resequencing in very large cohorts.

137 Here, through next-generation resequencing, in vivo functional studies and gene microa

138 There are a number of approaches to targeted resequencing, including microfluidic PCR amplification,

139 a within individuals with cystic fibrosis by resequencing individual colonies and whole populations f

140 rtant in the clinical setting where targeted resequencing is frequently being applied to rapidly asse

141 Uncovering genetic variation through resequencing is limited by the fact that only sequences

142 ajority sequence analysis workflows, such as resequencing, is the alignment of genomic reads to a ref

143 tional candidate genes, we selected IRS1 and resequenced its 2-kb promoter region and exons for seque

144 Using L1-targeted resequencing (L1-seq), we studied different stages of fo

145 We developed an R package for resequencing microarray data analysis that integrates a

146 thin a day using a single hybridization to a resequencing microarray.

147 15 tumor/normal pairs, followed by targeted resequencing, miRNA analysis and immunohistochemical ana

148 Here, we identify by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as

149 es were detected by targeted next-generation resequencing (NGS) in 18 of 88 (20.4%; sensitivity appro

150 inese American healthy subjects were used to resequence NPR3 exons, splice junctions, and flanking re

151 us variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR

152 Targeted resequencing of 1000 genes located in the critical regio

153 untreated patients at diagnosis and targeted resequencing of 101 SS cases.

154 e using whole-genome sequencing and amplicon resequencing of 112 EACs.

155 Here, the authors perform deep genome resequencing of 117 diverse accessions and reveal compre

156 We performed whole-genome resequencing of 12 field isolates and eight commonly stu

157 ucleotide polymorphisms detected by targeted resequencing of 18 153 genes in a population of 391 unre

158 Here we describe the targeted resequencing of 18 genes mutated in this discovery cohor

159 We perform targeted massively parallel resequencing of 19 known and 46 candidate genes for epil

160 We performed high-throughput resequencing of 22 genes in 53 patients with LT after MP

161 Whole-genome resequencing of 25 resistant mutants revealed from one t

162 From whole-genome resequencing of 292 Cajanus accessions encompassing bree

163 Resequencing of 3.7 Mb of MSY DNA in 334 males, comprisi

164 Genome resequencing of 33 representative individuals from world

165 ions were estimated from pooled whole-genome resequencing of 48 individuals per population.

166 On the basis of resequencing of 513 DCM cases and 1,150 matched controls

167 Using resequencing of 60 wild individuals and 100 landraces fr

168 The array has been built from the high-depth resequencing of 63 different cultivars covering most of

169 Here we report on the resequencing of 64 candidate neurodevelopmental disorder

170 In this study, targeted resequencing of 644 individuals with epileptic encephalo

171 Population resequencing of 80 individuals showed effective populati

172 llion SNPs of African rice from whole-genome resequencing of 93 landraces.

173 Today, resequencing of a human genome can be performed in appro

174 -resolution copy-number analysis, and Sanger resequencing of a large cohort of T-PLL.

175 This finding was confirmed with exhaustive resequencing of a mouse library constructed from 20 pg o

176 on the Ion Torrent PGM platform for targeted resequencing of a panel of six Plasmodium falciparum gen

177 Genome resequencing of a representative suppressor revealed a u

178 pattern in a flowering plant, we use shotgun resequencing of a wild population of the monkeyflower Mi

179 Resequencing of ABR6 allowed the creation of a single-nu

180 Genome resequencing of an Sse(A+) SpeB(A+) isolate identified a

181 Resequencing of CALR, encoding calreticulin, was then pe

182 Targeted resequencing of cancer genes in large cohorts of patient

183 Targeted resequencing of candidate genes was performed in an inde

184 (cDNA-smMIPs) that enable highly multiplexed resequencing of cDNA target regions of approximately 100

185 of differential mRNA expression by targeted resequencing of complementary DNA using single-molecule

186 Here we have undertaken a population-based resequencing of complete mitochondrial genomes in Europe

187 for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,

188 Genome resequencing of DG-8052 showed no general regulator muta

189 alms, SNP discovery was performed using deep resequencing of eight libraries derived from 132 Elaeis

190 Targeted resequencing of FGFR1 in multiple tissues from an indepe

191 Resequencing of GADL1 revealed a novel variant, IVS8+48d

192 Resequencing of NNT in additional LVNC families identifi

193 (four missense and one frameshift); targeted resequencing of PTCH1 in a second cohort of 48 ODA patie

194 For amplification-based resequencing of regions that cannot be amplified by a si

195 Genome resequencing of seven additional horseweed biotypes was

196 Here we use whole-genome resequencing of six 293 cell lines to study the dynamics

197 Targeted resequencing of six collagen genes replicated this assoc

198 Resequencing of SLCO2A1 revealed a nonsynonymous variant

199 Subsequent targeted resequencing of TENM4 led to the discovery of two novel

200 sidered to be positive for FK by cloning and resequencing of the amplified ITS fragment and by a path

201 crepant results were resolved by cloning and resequencing of the amplified ITS fragments.

202 Similarly, targeted resequencing of the AR gene in CWR-R1 cells led to the d

203 Resequencing of the CHGA promoter in an Indian populatio

204 Targeted resequencing of the DLL4 gene with a custom enrichment p

205 Here we report resequencing of the genomes of wild-type M145 and the ci

206 Whole genome resequencing of the human fungal pathogen Cryptococcus d

207 Using targeted resequencing of the KWE critical region in five South Af

208 assessed Ptpn22 as a candidate for Idd18.2; resequencing of the NOD Ptpn22 allele revealed 183 singl

209 ction of DNA from blood samples and complete resequencing of the SYNE1 gene.

210 The resequencing of the two parents of a cross between Eucal

211 Using next-generation resequencing of the WWOX region, we first identified 8 v

212 Previously, as part of a large systematic resequencing of the X chromosome in 208 unrelated famili

213 Resequencing of these derived strains revealed between 1

214 Resequencing of these differentially expressed genes unv

215 ntal disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with AS

216 Resequencing of this region in 10 genetically and geogra

217 Resequencing of three plasmids in a reference Klebsiella

218 exemplifies the promise of future widespread resequencing of tumor genomes in providing new insights

219 We also report resequencing of two cultivated peppers and de novo seque

220 rogress in de novo assembly and whole-genome resequencing of wild and cultivated soybean genomes, in

221 o (OR) = 25, P = 2.9 x 10(-14)) through deep resequencing of XFS cases and controls from nine countri

222 'Targeted resequencing' of a custom panel including genes coding f

223 Targeted resequencing offers a cost-effective alternative to whol

224 n in FKBP5 identified by Next Generation DNA resequencing on response to gemcitabine treatment of pan

225 d for testing whether prioritizing genes for resequencing on the basis of signatures of purifying sel

226 ce of private genomic variation using genome resequencing or ChIP-seq data, we find that up to 85% of

227 vealed once complete assemblies will replace resequencing or other reference-dependent methods.

228 Resequencing or reference-based assemblies reveal large

229 equencing, and simplifies retooling targeted resequencing pipelines to focus on new targets as new ge

230 We then resequenced pools of fish from a wide geographic range,

231 etitive region and was not a true variant in resequenced populations.

232 ations were confirmed by at least one of the resequencing procedures.

233 strains to produce the Saccharomyces Genome Resequencing Project (SGRP)-4X mapping population and se

234 such, the GMS should be considered in every resequencing project to pinpoint the 'dark matter' of th

235 sting datasets from the Saccharomyces Genome Resequencing Project, we identify a rich seam of ribosom

236 dentified using PGen from additional soybean resequencing projects adding to 500+ soybean germplasm l

237 As resequencing projects become more prevalent across a lar

238 tool for use in eukaryotic population-based resequencing projects, particularly for assessing the jo

239 fectively to identify indels in whole-genome resequencing projects.

240 ta and to detect somatic mutations in genome resequencing projects.

241 We resequenced protein coding regions of 3 genes with estab

242 Whole-genome resequencing proved to be a powerful strategy to rapidly

243 Genome resequencing revealed an increasing number of genotype c

244 Superimposing these data with resequencing revealed CNVs to (1) be sufficient to cause

245 ere, we use transcriptome sequencing, genome resequencing scans for selection, and stress tolerance a

246 We resequenced SF3B1, U2AF35, and SRSF2 in 371 children wit

247 ion mutation was identified in either WES or resequencing step.

248 f 201 phenotypic traits measured in multiple resequenced strains of S. cerevisiae.

249 In this study, we provide a comparison of resequencing strategies, with regard to their utility, a

250 Targeted large-scale resequencing studies have confirmed the significance of

251 Large-scale population resequencing studies have revealed that gene space is fa

252 /CCH predisposition genes we undertook exome resequencing studies in a family with apparent predispos

253 Y-chromosome resequencing studies in Europe have highlighted the prev

254 Resequencing studies of 20 cases originally classified a

255 These extensive resequencing studies show a significant accumulation of

256 Our data also suggest that CNV analyses and resequencing studies unbiased for previous mutational bu

257 me-wide association studies and whole-genome resequencing studies, have identified genes that are ass

258 ession, and mutation data from cancer genome resequencing studies, we identified RNA binding motif pr

259 f testing specific hypotheses in large-scale resequencing studies.

260 in the workflow of high-throughput targeted resequencing studies.

261 This comprehensive FKBP5 resequencing study provides insights into the role of ge

262 and tetraploid Stuberosum exceeded any crop resequencing study to date, in part due to expanded wild

263 In a separate family-based resequencing study, we identified a CXCR2 frameshift mut

264 , referred to as N, was discovered through a resequencing survey of the entire coding region of STAT2

265 Targeted resequencing technologies have allowed for efficient and

266 ral hundred new candidate genes and targeted resequencing technologies that allow screening of dozens

267 Here we introduce a new method to resequence the exome of NHP species by a designed captur

268 We used exome capture to resequence the gene space along a latitudinal and two al

269 We resequence the genomes of 147 cotton accessions, includi

270 BAC-by-BAC approach to sequence the MSY and resequence the Y regions of 24 wild males and the Y(h) r

271 identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 childr

272 of of concept for our discovery pipeline, we resequenced the entire major but conserved flowering tim

273 To this end, we resequenced the four products of 13 meiotic tetrads alon

274 pectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previ

275 Resequencing the CDKN2A-CDKN2B locus in 2,407 childhood

276 ions in individuals with ataxia worldwide by resequencing the SYNE1 gene.

277 e of 'citizen scientists', whose interest in resequencing their own Y chromosomes is generating a wea

278 Resequencing this region in selected individuals did not

279 obust in-solution approach for capturing and resequencing thousands of target human genome loci such

280 e genome sequence and used population genome resequencing to assess genomic changes associated with t

281 g of MA lines was combined with whole genome resequencing to develop a high-resolution picture of the

282 Here we have used whole-genome resequencing to reveal some of the loci that underlie ph

283 ch include de novo genome sequencing, genome resequencing, transcriptome sequencing and genomic locat

284 , chromosomal microarray (CMA), and targeted resequencing (TRS) of candidate genes.

285 95-8, C666-1, and HKNPC1) genomes were first resequenced using the sequencing workflow of target enri

286 cluding 282 unpublished trios, and performed resequencing using multiple independent technologies.

287 nked mutations, we introduced deep candidate resequencing using the new Ion Torrent Personal Genome M

288 Although targeted resequencing utilized for the identification of causal v

289 Targeted resequencing was performed in a well-characterized cohor

290 essed genes, mapping information, and genome resequencing, we identified a 129-bp deletion in Glyma.1

291 f homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain

292 genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21

293 ogether with exon capture array and targeted resequencing, we identified three novel single nucleotid

294 Through exome resequencing, we identified two unique mutations in reco

295 We utilized high quality (15x) whole-genome resequencing (WGRS) on 106 diverse soybean lines and ide

296 increasing adoption of clinical whole-genome resequencing (WGS) demands for highly accurate and repro

297 ost of DNA sequencing, it is now possible to resequence whole genomes in order to systematically char

298 We recently investigated TE insertions in 31 resequenced wild and cultivated soybean (Glycine max) ge

299 published reports, were analyzed by targeted resequencing with a customized enrichment system.

300 range polymerase chain reaction and amplicon resequencing with maize, one of the most repetitive geno