ライフサイエンスコーパス: human genome

1 ommonality of enhancer-like promoters in the human genome.

2 pecially in non-coding regulatory regions of human genome.

3 e Cas9 specificity with sgRNAs targeting the human genome.

4 known to contribute to the regulation of the human genome.

5 understand the function of every gene in the human genome.

6 eatly advanced our ability to manipulate the human genome.

7 ential of over 700,000 such sequences in the human genome.

8 19,175 potentially functional lncRNAs in the human genome.

9 structural information that spans the entire human genome.

10 elements comprising approximately 10% of the human genome.

11 rate is non-uniformly distributed across the human genome.

12 se tools have yet to be applied to the whole human genome.

13 bile retrotransposons comprising 17% of the human genome.

14 ersistence of its risk alleles in the modern human genome.

15 by exploring the non-coding sequences of the human genome.

16 ergence of Hsmar1-derived miRNA genes in the human genome.

17 e, site-specific genetic modification in the human genome.

18 he scarcity of protective LoF alleles in the human genome.

19 E-1 (L1), comprise approximately half of the human genome.

20 currently amplified oncogenes throughout the human genome.

21 n deletion calls and phasings on the NA12878 human genome.

22 assification of putative GQ sequences in the human genome.

23 ts (STRs) are hyper-mutable sequences in the human genome.

24 nt viruses, comprise approximately 8% of the human genome.

25 ld a high-quality, phased, de novo assembled human genome.

26 pathogen Streptococcus pneumoniae and in the human genome.

27 ell cycle and maintains the integrity of the human genome.

28 methylation state of a small portion of the human genome.

29 More than 1,000 miRNAs are encoded in the human genome.

30 ber of potential GQ forming sequences in the human genome.

31 approximately 20,000 proteins encoded in the human genome.

32 HS-EL for identifying the location of DHS in human genome.

33 le for many of the adaptive mutations in the human genome.

34 predicted 217 RPG regulatory regions in the human genome.

35 dent blocks of linkage disequilibrium in the human genome.

36 ological models for allelic exclusion in the human genome.

37 tation-prone loci that span nearly 1% of the human genome.

38 ensive catalog of functional elements in the human genome.

39 enes encode the K(+) channel subunits in the human genome.

40 proaching that of the current quality of the human genome.

41 RVs) have contributed to more than 8% of the human genome.

42 ous retroviruses (ERVs) comprise 6-8% of the human genome.

43 s that are estimated to regulate ~60% of the human genome.

44 mics era that followed the sequencing of the human genome.

45 pecific functional mammalian PREs within the human genome.

46 relics of ancestral virus infections in the human genome.

47 amily of mutators may target the LGST in the human genome.

48 interactions to regulate target genes in the human genome.

49 e largest family of druggable targets in the human genome.

50 short interspersed repeated elements in the human genome.

51 o pervasive Pol II initiation throughout the human genome.

52 ure providing PIC binding specificity in the human genome.

53 pe of regulatory activity in the much larger human genome.

54 tral, of indels in non-coding regions of the human genome.

55 mpact of indels in non-coding regions of the human genome.

56 e elements (TEs) comprise nearly half of the human genome.

57 BPDE-dG adducts generated by tXR-Seq for the human genome.

58 s only make up approximately 1% to 2% of the human genome.

59 cated and clinically important region of the human genome.

60 f alternatively spliced exons throughout the human genome.

61 enous retroviruses (HERVs) make up 8% of the human genome.

62 ruses (ERVs) occupy extensive regions of the human genome.

63 line dealing with the analysis of the morbid human genome.

64 tion and disease-associated variation in the human genome.

65 and diseases, covering 73.9 Mb (2.2%) of the human genome.

66 a comprehensive view of the sequence of the human genome.

67 g research efforts in line with those on the human genome.

68 d in AML occur in regulatory elements of the human genome.

69 ional annotation of genetic variation in the human genome.

70 ables fast and affordable sequencing of full human genomes.

71 roximately 25% of all structural variants in human genomes.

72 dern humans, the deletion is also in archaic human genomes.

73 f events between two independently sequenced human genomes.

74 he point where we have sequenced millions of human genomes.

75 advantage of the block-wise LD structures in human genomes.

76 FIPSA was independently validated on 11,257 human genomes.

77 dual genes, then all genes, and now complete human genomes.

78 m are highly conserved in yeast, insect, and human genomes.

79 nd most common type of genetic variations in human genomes.

80 time (SMRT) sequencing data from two haploid human genomes.

81 nts to evaluate NRGC by taking a set of real human genomes.

82 , which make up nearly half of the mouse and human genomes.

83 ral variation as well as somatic mutation in human genomes.

84 y identify coding variants within individual human genomes.

85 direct comparison between archaic and modern human genomes.

86 to lineage-specific new exons in primate and human genomes.

87 assembly of structurally altered regions in human genomes.

88 mble and detect structural variants (SVs) in human genomes.

89 he introgression of ancient MEIs into modern human genomes.

90 re than a decade after the sequencing of the human genome, a deluge of genome-wide population data ar

91 ing interest in obtaining haplotype-resolved human genomes, a range of new sequencing protocols and t

92 This integration bridges from the human genome across protein sequence to 3D structure spa

93 he evolution of RV-C and helped shape modern human genomes against the virus-susceptible, albeit ance

94 from the Sequence Read Archive (SRA) to the human genome and compared detected exon-exon junctions w

95 le nucleotide variants (SNVs) from the whole human genome and compared the efficiency of SNV calling

96 s one of the most polymorphic regions in the human genome and contributes in large part to the divers

97 a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciat

98 n the epigenetic regulatory landscape of the human genome and demonstrate ubiquitous presence of tran

99 IBD) is associated with risk variants in the human genome and dysbiosis of the gut microbiome, though

100 Human genome and exome sequencing are powerful research

101 polymorphism varies substantially across the human genome and fundamentally influences evolution and

102 can coexist with canonical duplex DNA in the human genome and have been suggested to suppress gene tr

103 er apply our model to predict binding on the human genome and identify 15 genes with potential for se

104 cterization of the molecular function of the human genome and its variation across individuals is ess

105 investigate the diploid architecture of the human genome and reveal the full range of structural var

106 hole-genome sequencing data from the NA12878 human genome and the HCC1954 breast cancer cell line.

107 odel organisms has been used to annotate the human genome and to increase the understanding of human

108 Improved functional annotation of the human genome and transition to sequencing of patient gen

109 jor source of differences between individual human genomes and has been linked to disease phenotypes.

110 undance of repeats and genetic variations in human genomes and the limitations of existing sequencing

111 ws that these sequences are prevalent in the human genome, and are present in development-related gen

112 re than 25% of protein-coding genes from the human genome, and constitutes, to our knowledge, the lar

113 n variation, sites of HPV integration in the human genome, and HPV-associated histone enrichment site

114 h in scale from a few kilobases to the first human genome, and now to millions of human and a myriad

115 ly active, autonomous retrotransposon in the human genome, and they make major contributions to human

116 nding frequencies across the lambdaphage and human genomes, and explain why Cas9's off-target activit

117 3 in 156 human populations, in eight ancient human genomes, and in primate genomes.

118 The two chromosomal copies of the human genome are highly polymorphic, and the allelic con

119 Mutations in human genome are mainly through single nucleotide polymo

120 The majority of CpG dinucleotides in the human genome are methylated at cytosine bases.

121 on changes at a discrete set of sites in the human genome are predictive of chronological and biologi

122 ost transcription units (gene bodies) in the human genome are thought to be heavily methylated.

123 Hundreds of thousands of human genomes are now being sequenced to characterize ge

124 Human genomes are routinely compared against a universal

125 ERVs), which make up approximately 8% of the human genome, are overexpressed in some breast cancer ce

126 It can also be applied to other phased human genomes, as well as genomes from other species.

127 is work presents the most contiguous diploid human genome assembly so far, with extensive investigati

128 The glucocorticoid receptor (GR) binds the human genome at >10,000 sites but only regulates the exp

129 mory than existing methods for inferring the human genome at high resolution (10 kbp).

130 (metazoan), and high (some plants), with the human genome at the extreme end of the middle domain.

131 We report on the sequencing of 10,545 human genomes at 30x-40x coverage with an emphasis on qu

132 an pluripotent stem cells provide a powerful human-genome based system for modeling human diseases in

133 ing new insights into the forces that shaped human genomes before and after the Out-of-Africa migrati

134 nse to draw on representative collections of human genomes, brought together into reference cohorts.

135 elements are predicted to be present in the human genome, but direct evidence for their biological f

136 ons represent approximately one sixth of the human genome, but only the human-specific L1HS-Ta subfam

137 d the de novo assembly of several individual human genomes, but with inherent limitations in characte

138 mate mutation parameters for each STR in the human genome by correlating STR genotypes with local seq

139 recently discovered widespread uTISs in the human genome can be a previously unappreciated substrate

140 We find that 84% of an individual human genome can be sequenced confidently.

141 ng polypurine mirror repeat sequences in the human genome can create endogenous triplex structures ev

142 With <2% of the human genome coding for proteins, a major challenge is t

143 le to interrogate the entire sequence of the human genome (coding and noncoding) to fill in the missi

144 s than 30% of the 10-mers needed to span the human genome compared to minimizers.

145 The three-dimensional arrangement of the human genome comprises a complex network of structural a

146 an autonomous non-LTR retrotransposon in the human genome, comprising 17% of its genomic mass and con

147 Human genome data contain valuable but highly sensitive

148 It is important to protect human genome data.

149 previous best-performing algorithm KMC2 for human genome dataset.

150 We validate this method by assembling a human genome, de novo, from short reads alone (67x cover

151 The human genome displays a rich fossil record of past gamma

152 olyticus T3SSs (T3SS1 and T3SS2) to identify human genome disruptions conferring resistance to T3SS-d

153 demonstrate these advances on data from the Human Genome Diversity Panel and 1000 Genomes Project, w

154 ta, the method showed high resolution on the Human Genome Diversity Project (HGDP) East Asian dataset

155 single nucleotide polymorphism data from the Human Genome Diversity Project and the HapMap Project.

156 the 1000 Genomes Project and a subset of the Human Genome Diversity Project panel.

157 reference genome will accelerate mapping all human genome diversity.

158 sed 10-fold in the presence of contaminating human genome DNA.

159 Complete and robust human genome duplication requires loading minichromosome

160 ecisely replicate the 6 billion bases in the human genome each time a normal cell divides.

161 re system, we demonstrate the feasibility of human genome editing in the eye for this important disea

162 potent immune-activating receptor that binds human genome-encoded ligands, whose expression is neglig

163 The human genome encodes 45 kinesin motor proteins that driv

164 Given that the human genome encodes for more than 60 2KG-dependent diox

165 A large portion of the human genome encodes proteins used to assemble signaling

166 The human genome encodes two active Vaccinia-related protein

167 We searched the MEDLINE, Human Genome Epidemiology Network, and WHO International

168 alternative splicing plays a central role in human genome evolution, and possibly human cognitive pre

169 y more pyknon-containing genomic loci in the human genome exhibit tissue-specific and disease-specifi

170 y radiation damage at the scale of an entire human genome (fibroblast, male) and using Geant4-DNA mod

171 In vivo, the human genome folds into a characteristic ensemble of 3D

172 The human genome folds to create thousands of intervals, cal

173 This observation led us to interrogate the human genome for dCn runs.

174 help identify and prioritize SNVs across the human genome for further investigation.

175 d a study population of 475 deeply sequenced human genomes for genomic call rate, genotype and allele

176 The current release of the human genome, GRCh38, contains 146 putatively active L1

177 The number of proteins encoded in the human genome has been estimated at between 20,000 and 25

178 d by one of the largest gene families in the human genome has come to the fore relatively recently, c

179 ncing technologies, the cost of sequencing a human genome has plummeted, and genomics has started to

180 e quantification of enhancer activity in the human genome has proven to be a challenging problem.

181 machine learning approach, a recent study of human genomes has revealed widespread footprints of rece

182 Recent studies of the human genome have indicated that regulatory elements (e.

183 Over the past decade, thousands of human genomes have been sequenced, contributing deeply t

184 ion of a subset of these ERV elements in the human genome impaired expression of adjacent IFN-induced

185 teriousness scores of all common SNPs in the human genome in 44 cell lines.

186 s detect common and rare variants across the human genome in many individuals, it is known that joint

187 o analyze sequence data from over a thousand human genomes in Africa and Eurasia, hundreds of genomes

188 it can construct the graph for 100 simulated human genomes in less than a day and eight real primates

189 ed interactions at multiple positions in the human genome including remote loci.

190 Many forms of variations exist in the human genome including single nucleotide polymorphism, s

191 Inspection of the human genome indicates that dCn runs are enriched in cri

192 second most common type of variation in the human genome, insertions and deletions (indels) have bee

193 icient compaction of the nearly 2-meter-long human genome into a roughly 10-micron-diameter cell nucl

194 The human genome is 99% complete.

195 Natural genetic variation in the human genome is a cause of individual differences in res

196 Writing specific DNA sequences into the human genome is challenging with non-viral gene-editing

197 Forty percent of the human genome is comprised of transposable element sequen

198 The human genome is hierarchically organized into local and

199 Complete annotation of the human genome is indispensable for medical research.

200 Half the human genome is made of transposable elements (TEs), who

201 anslational research because over 98% of the human genome is non-coding and 93% of disease-associated

202 Approximately 8% of the human genome is of retroviral origin.

203 of the non-coding transcripts encoded by the human genome is the coveted goal of the modern genomics

204 location of retroviral integration into the human genome is thought to play a role in the clonal exp

205 The human genome is tightly packaged into chromatin whose fu

206 ent studies suggest that the majority of the human genome is transcribed, but only about 2% accounts

207 cterization of causal non-coding variants in human genomes is challenging and requires substantial ex

208 te, accurate, and cost-effective assembly of human genomes is of great importance for realizing the p

209 ing for high nucleosome occupancy, as in the human genome, is in fact a universal feature of multicel

210 Flicr neighbors Foxp3 in mouse and human genomes, is specifically expressed in mature Tregs

211 rival of nucleosome positioning maps for the human genome, it was discovered that in our genome, unli

212 romes are not normally found in bacterial or human genomes, leaving the cellular substrates and funct

213 ; however, the abundance of variation in the human genomes makes the identification of a disease-caus

214 thousands of cytosine-rich sequences in the human genome may fold into i-motif structures under phys

215 Inappropriate disclosure of human genomes may put the privacy of study subjects and

216 ydatidiform mole genome (CHM1) and a diploid human genome (NA12878) to test our approach.

217 ds of sncRNA genes are known to exist in the human genome, no single database provides searchable, un

218 them to the complementary repair maps of the human genome obtained by excision repair sequencing to g

219 the milestone of sequencing and assembling a human genome on this platform was achieved for the first

220 c DNA elements that are not alignable to the human genome or exhibit no p63 binding in the orthologou

221 tor of all eukaryotic cells, and much of the human genome originated in microorganisms.

222 On a real Hi-C data set of the human genome, our method produced chromosome and genome

223 Applied to the human genome, our model detects thousands of template sw

224 eWAS for the characterization of the complex human genome-phenome relationship.

225 The human genome produces thousands of long noncoding RNAs (

226 However, with the completion of the Human Genome Project and follow-up ENCODE data, it is no

227 the drug discovery horizon, well before the Human Genome Project gave it promise at the turn of the

228 Since the completion of the Human Genome Project in 2003, significant advances have

229 ion of KLLN, a gene uncovered well after the human genome project, has been linked to Cowden cancer-p

230 technologies that have been gained from the Human Genome Project, it has been possible to begin to u

231 s, including chromosomal position within the human genome; protein modifications; and metabolic pathw

232 ailed map of parental epigenetic bias in the human genome, providing insights into potential parent-o

233 rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in m

234 8 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural proje

235 is work was supported in part by US National Human Genome Research Institute (NHGRI)/National Heart,

236 licy efforts in human genomics, the National Human Genome Research Institute is committed to establis

237 art, Lung, and Blood Institute- and National Human Genome Research Institute-funded DCM Precision Med

238 Many modern human genomes retain DNA inherited from interbreeding wi

239 Applying MAGIC to a sample of human genomes reveals evidence of non-demographic factor

240 Due to the large size of human genome sequence data files (varying from 30 GB to

241 1) insertions comprise as much as 17% of the human genome sequence, and similar proportions have been

242 The potential threat is evident from the human genome sequence, which reveals many past epidemics

243 to the functional annotation of variation in human genome sequences.

244 er throughput nanopore sequencers, mean that human genome sequencing at scale is now possible.

245 witnessed an explosion of successful ancient human genome-sequencing projects, with genomic-scale anc

246 Finally, some regions in the human genome show high sequence divergence from the refe

247 domain to introduce DNA methylation into the human genome specifically at the EpCAM, CXCR4 and TFRC g

248 ease that has a critical role in maintaining human genome stability.

249 cell line, LNCaP as a model to perform whole human genome STARR-seq (WHG-STARR-seq) to reliably obtai

250 ted by some known structural patterns of the human genome, such as chromosome compartmentalization, c

251 rch and investigation of regions in the full human genome that show highly coordinated methylation.

252 x alternative MHC reference sequences of the human genome that we completed and refined.

253 T cell response due to conservation with the human genome, the links between the T-cell epitopes and

254 The most polymorphic part of the human genome, the MHC, encodes over 160 proteins of dive

255 We also demonstrate that across the human genome, the presence of MSR1 repeats in the promot

256 the method is applied to five different full human genomes, the top enriched function for each is inv

257 f repetitive elements, such as LINEs, in the human genome, thereby revealing the strong correlation b

258 ulatory sequences have been predicted in the human genome through analysis of DNA methylation, chroma

259 es site-specific genetic modification of the human genome through homology-directed repair (HDR).

260 meric signaling receptors encoded within the human genome to be exploited for basic research and drug

261 with additional 32 modern-day and 46 ancient human genomes to reconstruct genetic histories of severa

262 In the human genome, translation initiation from non-AUG codons

263 etrotransposon insertions selectively in the human genome, transposon insertion profiling by next-gen

264 jacent samples) were analyzed using GeneChip Human Genome U133 Plus 2.0 arrays.

265 f haplotypes that extend megabases along the human genome using high molecular weight (HMW) DNA.

266 The Human Genome Variation Archive (HGVA) tackles these chal

267 leucine to serine substitution at codon 102 (Human Genome Variation Society nomenclature: p.Leu102Ser

268 dation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, cl

269 Despite efforts to interrogate human genome variation through large-scale databases, sy

270 sis reveals key features of the landscape of human genome variation, including that the rate of accum

271 formation dataset, recently obtained for the human genome via G4-seq methodology.

272 For many years, only a small fraction of the human genome was believed to regulate cell function and

273 When applied to the human genome, we achieve 55-fold genome coverage, allowi

274 sequencing reads that map uniquely onto the human genome, we discovered that the overwhelming majori

275 equence alignments of protein domains in the human genome, we extend the principle of recurrence anal

276 disease and trait-associated regions of the human genome, we identify novel epigenetic ageing change

277 orphan SULT by computational analysis of the human genome, we recently reported that SULT1C3 is expre

278 instance, three minimal absent words of the human genome were found in Ebola virus genomes.

279 Captured sequences mapped to the reference human genome were then used for the detection of somatic

280 n a standard workstation to process the full human genome when as little as 1 GB of RAM is made avail

281 principle for protein-DNA recognition in the human genome, which can lead to a better mechanistic und

282 Human genome-wide association studies have demonstrated

283 Human genome-wide association studies have revealed nove

284 high-density lipoprotein gene discovered in human genome-wide association studies, promotes the ubiq

285 Using human genome-wide association study (GWAS) data, evidenc

286 Finally, integrating our data with human genome-wide association study data implicates two

287 ormance of three available second-generation human genome-wide CRISPR-KO libraries that included at l

288 Here we use human genome-wide genotyping arrays and new whole-genome

289 his study, we present the first quantitative human genome-wide map of DNA lesions induced by ultravio

290 d also incorporate regulatory domains of the human genome with critical ramifications for the control

291 led single-nucleotide variant calling on the human genome with increased sensitivity (15%) over the n

292 ough the bioinformatic analysis of the whole Human Genome with Oligo Microarrays and quantitative rea

293 ation of user-defined DNA sequences from the human genome with programmable selectivity for both cano

294 ncestry in two published data sets: European human genomes with Neanderthal ancestry and brown bear g

295 st widely studied regulatory features of the human genome, with critical roles in development and dis

296 , present in over 50% of the proteins in the human genome, with important roles in cell-cell communic

297 onal annotation of TE-derived regions in the human genome, with improved speed.

298 proteins are the most polymorphic within the human genome, with thousands of different allelic varian

299 can typically uniquely identify loci in the human genome without full read alignment.

300 second most common RNA binding domain in the human genome, yet their RNA-binding properties remain po