ライフサイエンスコーパス: human genome

1 g portion of the BAM file (about 75% for the human genome).

2 herichia coli, Chlamydomonas reinhardtii and human genomes).

3 version of T*A to C*G point mutations in the human genome.

4 As for all protein-coding transcripts in the human genome.

5 .3% of most deleterious substitutions in the human genome.

6 xa across all domains of life, including the human genome.

7 a MGW census for 199 038 197 SNPs across the human genome.

8 ocessed and joined during replication of the human genome.

9 ononucleotide repeat tracts in the reference human genome.

10 folate deprivation drives instability in the human genome.

11 racting loci cover a total of ~3.5 Mb of the human genome.

12 tion signals lie in noncoding regions of the human genome.

13 maps for 1,778 enhancers within 2.5% of the human genome.

14 ne integration at predetermined sites in the human genome.

15 nly autonomously active elements left in the human genome.

16 e evolution of many organisms, including the human genome.

17 del to study the organization of the diploid human genome.

18 rts to generate the complete assembly of the human genome.

19 some of the most polymorphic regions in the human genome.

20 olerance and promoter CpG density across the human genome.

21 onent of the cis-regulatory landscape of the human genome.

22 enzymes have already been annotated such in human genome.

23 ion of new regulatory domains throughout the human genome.

24 sequences comprise approximately 17% of the human genome.

25 ment (TE) insertions, including ERVs, in the human genome.

26 ndem satellite repeats account for 3% of the human genome.

27 ons and short variants from a representative human genome.

28 splicing rates and yield are encoded in the human genome.

29 tly and are undergone by 14% (430 Mb) of the human genome.

30 Alu expansion had a stabilizing role on the human genome.

31 sequence to the emergence of CHRFAM7A in the human genome.

32 emaining multimegabase gaps in the reference human genome.

33 cisely identify and characterize m6dA in the human genome.

34 cilitate fine-tuning of transcription in the human genome.

35 ding dynamics at target sites throughout the human genome.

36 ily of cell-surface receptors encoded by the human genome.

37 ) T cells and viral integration sites in the human genome.

38 presence in active chromatin regions in the human genome.

39 to understand its role in the maintenance of human genome.

40 activity of highly repetitive regions of the human genome.

41 nformation to the existing annotation of the human genome.

42 family of mirtrons with two instances in the human genome.

43 e individuals but missing from the reference human genome.

44 nd created a 30-way primate alignment on the human genome.

45 s across all protein-coding sequences in the human genome.

46 )-mediated targeting of specific loci in the human genome.

47 es and variants in repetitive regions of the human genome.

48 ed repeat sequences that make up much of the human genome.

49 vide a map of endogenous abasic sites in the human genome.

50 all eukaryotes and are most abundant in the human genome.

51 unctional regulatory elements throughout the human genome.

52 representing 20,193 proteins encoded in the human genome.

53 s that were inserted as a substrate into the human genome.

54 al complexes at thousands of loci across the human genome.

55 here DNA replication starts and stops in the human genome.

56 variants fall in the non-coding part of the human genome.

57 orial regulatory patterns that appear on the human genome.

58 etroviruses (ERVs), that comprise ~8% of the human genome.

59 l to structural or functional regions of the human genome.

60 ible contacts between EBV episome(s) and the human genome.

61 codon pairs that are overrepresented in the human genome.

62 s of Pol delta's activity in replicating the human genome.

63 ds of measurements for every basepair in the human genome.

64 fication of structural variants (SVs) in the human genome.

65 ral selection optimizes codon content in the human genome.

66 r 741 transcription factors (TFs) across the human genome.

67 hensively understand the impact of SV in the human genome.

68 mutable microsatellite loci found within the human genome.

69 LE-associated regulatory architecture of the human genome.

70 deleted sequences did not integrate into the human genome.

71 prehensive map of functional elements in the human genome.

72 ruct an in silico sgRNA library spanning the human genome.

73 cant advance toward the complete assembly of human genomes.

74 ructural variants in 17,795 deeply sequenced human genomes.

75 n cells and identify m6dA characteristics in human genomes.

76 put sequencing (HTS) to large collections of human genomes.

77 ing datasets and provide benchmark calls for human genomes.

78 low the regulation of genetic instability in human genomes.

79 d sequence data and analyzed SVs for fifteen human genomes.

80 yeast and displayed high indel frequency in human genomes.

81 n imaging of large swaths of, if not entire, human genomes.

82 Of the human genome, 144.4 million nucleotides (4.7%) are occup

83 ith a length not exceeding the length of the human genome (3.24 Gbp).

84 central processing unit hours to assemble a human genome and are being outpaced by sequencing techno

85 counted from paired-end tags (PETs) from the human genome and are normalized to the total PETs from t

86 epetitive elements (REs) compose ~50% of the human genome and are normally transcriptionally silenced

87 e elements (TEs) comprise nearly half of the human genome and are often transcribed or exhibit cis-re

88 t family of membrane proteins encoded in the human genome and are the targets of about one-third of p

89 associations between genetic variants in the human genome and complex traits for more than a decade.

90 of ncRNA that is currently annotated in the human genome and describe how each class is assigned a s

91 The increasing number of human genome and exome sequences available has revealed

92 approach we have identified 301 LG4s in the human genome and find LG4s prone to mutation and signifi

93 plementary information for understanding the human genome and genetic variation.

94 the knowledge of the 3D architecture of the human genome and GWAS data.

95 elements (RE) constitute the majority of the human genome and have a range of functions both structur

96 teraction between a common oncovirus and the human genome and identify novel regulatory nodes and dru

97 osition is an important force in shaping the human genome and is involved in prenatal development, di

98 informative continent for understanding the human genome and its contribution to complex disease.

99 enrichment of specific chromosomes from the human genome and of low-abundance organisms in mixed pop

100 Here we present a complete ancient human genome and oral microbiome sequenced from a 5700 y

101 suggested to have a widespread impact on the human genome and phenotypes.

102 cific silencing is widespread throughout the human genome and probably contributes substantially to t

103 nvolving 10,635 nsSNPs from 2154 ORFs in the human genome and recognized disease-associated nsSNPs wi

104 ingle-nucleotide polymorphisms (SNPs) in the human genome and release the Atlas of Variant Age as a p

105 used to interrogate the coding and noncoding human genome and simultaneously to identify genes, predi

106 e integrated at highly distinct sites in the human genome and were preferentially located in centrome

107 unknown how the APE2 gene is altered in the human genome and whether APE2 is differentially expresse

108 iation can aid in clinical interpretation of human genomes and can advance disease gene discovery(1-4

109 comprise a large proportion of variation in human genomes and impact health conditions.

110 molecule, real-time sequence data from three human genomes and recover 33-79 megabase pairs (Mb) of d

111 Today, we can read human genomes and store digital data robustly in synthet

112 identify important noncoding regions in the human genome, and emphasize the potential significance o

113 ipeline on data sets from the well-annotated human genome, and evaluated its performance on data from

114 The GPCR superfamily is the largest in the human genome, and GPCRs are common pharmaceutical target

115 Transposable elements are abundant in the human genome, and great strides have been made in pinpoi

116 enhancer localization, conservation with the human genome, and hypoxia-inducible factor 1alpha depend

117 are genetic variants are abundant across the human genome, and identifying their function and phenoty

118 transposons account for more than 10% of the human genome, and insertions of these elements create st

119 equences constitute approximately 42% of the human genome, and mobilisation of retrotransposons has r

120 ually review large indels and SVs within the human genome, and report their genotype and size accurac

121 a major source of structural variants in the human genome, and some mobile elements can regulate gene

122 STRs are abundant throughout the human genome, and specific repeat expansions may be asso

123 region is the most polymorphic region of the human genome, and the levels of polymorphism seen exceed

124 coronaviridae family of viruses, the overall human genome, and the transcriptome of specific human ti

125 Rs using 21 long-read sequencing datasets on human genomes, and build a genomic-scale database called

126 types of input data, is compatible with non-human genomes, and supports the analysis of non-standard

127 tide resolution across the S. cerevisiae and human genomes-and use the meiotic Spo11 protein to valid

128 utionary stability of gene expression in the human genome are established by an array of redundant en

129 Most of the millions of SNPs in the human genome are non-coding, and many overlap with putat

130 A subset of genes in the human genome are uniquely human and not found in other s

131 Most human genomes are characterized by aligning individual r

132 Nearly 50% of mouse and human genomes are composed of repetitive sequences.

133 Human genomes are typically assembled as consensus seque

134 These regions, comprising just 0.1% of the human genome, are inter-correlated over long genomic dis

135 quencing many thousands-and soon millions-of human genomes as part of various gene mapping studies, b

136 Shasta produced a complete haploid human genome assembly in under 6 h on a single commercia

137 Here we present a human genome assembly that surpasses the continuity of G

138 To enable rapid human genome assembly, we present Shasta, a de novo long

139 As examining the human genome at more refined levels increases, so is the

140 the direct quantification of 5fC levels in a human genome background by covalent enrichment.

141 ylogeny of the protein kinase domains in the human genome based on our alignment indicates that ten k

142 The number of human genomes being genotyped or sequenced increases exp

143 Here, we develop a human genome benchmark derived from a diploid assembly f

144 iruses (HERV) form a substantial part of the human genome, but mostly remain transcriptionally silent

145 ulatory sequences have been annotated in the human genome, but the genes they control remain poorly d

146 Furthermore, their removal across the human genome by RNase H1 overexpression causes the selec

147 alogue of functional elements encoded in the human genome by the addition of a large set of elements

148 snationally share data on at least 1 million human genomes by 2022.

149 evolved in the postgenomic era in which the human genome can be directly measured.

150 The human genome can be segmented into topologically associa

151 Each human genome carries tens of thousands of coding variant

152 The majority of the human genome comprises noncoding sequences, which are in

153 Most of the human genome consists of DNA genes that are translated i

154 Nearly half of the human genome consists of endogenous retroelements (EREs)

155 The human genome contains "dark" gene regions that cannot be

156 presented in humans and rodents; whereas the human genome contains a single active gene (AOX1), those

157 The human genome contains an estimated 600 ubiquitin E3 liga

158 The human genome contains vast genetic diversity as naturall

159 This interface, GenCoF, rapidly removes human genome contaminants from metagenomic datasets.

160 Enhancer elements in the human genome control how genes are expressed in specific

161 r toolkit, we assembled 11 highly contiguous human genomes de novo in 9 d.

162 some of the most challenging regions of the human genome, detect previously inaccessible structural

163 ranscription to build an overview of how the human genome differentially regulates alternative organ

164 The use of human genome discoveries and other established factors t

165 sive analysis of structural variation in the Human Genome Diversity panel, a high-coverage dataset of

166 opying probabilities." In application to the Human Genome Diversity Project, we corroborate many prev

167 resources including 1000 Genomes Project and Human Genome Diversity Project.

168 As the human genome does not encode l-Met-degrading enzymes, we

169 The majority of the human genome does not encode proteins.

170 ormation about polymorphic inversions in the human genome due to the difficulty of their detection.

171 In this Perspective, we discuss advances in human genome editing and consider ethical questions and

172 uman subjects might accommodate all types of human genome editing, including editing of the germline;

173 start of the Second International Summit on Human Genome Editing, where researchers, ethicists and o

174 Replicating the human genome efficiently and accurately is a daunting ch

175 The human genome encodes >600 tRNA genes, providing both the

176 The human genome encodes 10 different sHsps (HspB1-10).

177 The human genome encodes an arsenal of proteins that protect

178 The human genome encodes an order of magnitude more gene exp

179 The human genome encodes for over 1,500 RNA-binding proteins

180 The human genome encodes hundreds of transfer RNA (tRNA) gen

181 The human genome encodes more than 300 potential immune inhi

182 that contains the raw read data for over 250 human genomes, encompassing trillions of bases of DNA, a

183 The human genome folds in 3 dimensions to form thousands of

184 f HLA affinity predictions, we annotated the human genome for its translatability to HLA binding pept

185 e revolutionized our ability to engineer the human genome for robust functional interrogation of comp

186 a catalog of rare epigenetic changes in the human genome, gives insight into the underlying origins

187 The human genome harbors a variety of genetic variations.

188 The human genome harbors an abundance of repetitive DNA; how

189 While the human genome harbors hundreds of thousands of TRs, analy

190 n 1,600 transcription factors encoded in the human genome has been assayed.

191 While the human genome has been extensively annotated and studied,

192 mplex transcriptional output of not only the human genome has remained elusive.

193 rstanding the "code of life" and mapping the human genome have been monumental and era-defining scien

194 kably, approximately 10% of the genes in the human genome have the potential to be regulated by IFNs.

195 and new aDNA protocols, hundreds of ancient human genomes have become available.

196 A small number of de novo assembled human genomes have been reported to date, and few have b

197 To identify toxic R-loops in the human genome, here, we map RNA:DNA hybrids, replication

198 We sequence a human genome HX1 and a Chlamydomonas reinhardtii genome

199 de for the continued restraint of ERV in the human genome.IMPORTANCE Although APOBEC3 proteins are kn

200 to characterize the RT program in the entire human genome in a high-throughput and high-resolution fa

201 with the three-dimensional structure of the human genome in infected cells.

202 een EBV episome(s) and active regions of the human genome in lymphoblastoid cells.IMPORTANCE EBV is a

203 Mutations arise in the human genome in two major settings: the germline and the

204 and analyzing conformational changes to the human genome induced by SVs across populations.

205 DNA double-stranded breaks (DSBs) trigger human genome instability, therefore identifying what fac

206 g our understanding of mechanisms underlying human genome instability.

207 effects of many genetic variants across the human genome into a single score and have recently been

208 ed spatial segregation of chromosomes in the human genome into distinct subcompartments.

209 repetitive regions, and fail to resolve the human genome into haplotypes.

210 the study of mid-range (e.g., 20 kb-2 Mb for human genome) intra-chromosomal contacts; however, with

211 The human genome is composed of two haplotypes, otherwise ca

212 Approximately 8% of the human genome is derived from endogenous retroviruses (ER

213 ation of functional regions in the noncoding human genome is difficult but critical in order to gain

214 The human genome is extensively folded into 3-dimensional or

215 The human genome is folded into regulatory units termed 'top

216 ty to characterize repetitive regions of the human genome is limited by the read lengths of short-rea

217 More than 98% of the human genome is made up of non-coding DNA, but technique

218 Accessibility of the human genome is modulated by the ATP-driven SWI/SNF chro

219 ces in technology have demonstrated that the human genome is more diverse than originally thought.

220 The human genome is not randomly organised, with respect to

221 esults demonstrate that finishing the entire human genome is now within reach, and the data presented

222 a model in which, at the scales probed, the human genome is often free of knots.

223 The human genome is replete with repetitive DNA sequences th

224 in the last decade, our understanding of the human genome is still in its infancy.

225 One key bottleneck in understanding the human genome is the relative under-characterization of 9

226 ation of ancient viral genes embedded in the human genome is theorized to lead to motor neuron degene

227 ntial decrease in the cost of sequencing the human genome is transforming the practice of medicine.

228 xposome at a scale comparable to that of the human genome is warranted.

229 Safe and effective heritable editing of the human genome is years away from the clinic because of fo

230 Reconstruction of haplotypes for human genomes is an important problem in medical and pop

231 technologies, such as the sequencing of the human genome, metabolomics, and proteomics, have provide

232 that CasX is active for Escherichia coli and human genome modification.

233 RISPR knock-out library, Mini-human, for the human genome (n = 17,032 constructs targeting 16,977 pro

234 Using whole-genome Hi-C data for two human genomes (NA19240 and NA12878), we demonstrate that

235 While thousands of sncRNA genes exist in the human genome, no single resource provides searchable, un

236 Virus integration into the human genome occurs frequently and represents a key driv

237 Structural variations (SVs) in the human genome originate from different mechanisms related

238 Applied to four public human genomes, PGP1, HG002, NA12878 and HG00733, DipAsm

239 In the wake of the Human Genome Project (HGP), strong expectations were set

240 s of genomics from pea plant genetics to the human genome project and highlight the molecular, techni

241 The clinical relevance of the Human Genome Project and next-generation sequencing tech

242 The completion of the Human Genome Project in 2003 and the continuous technolo

243 Starting with the launch of the Human Genome Project three decades ago, and continuing a

244 Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the prom

245 , with the advent of positional cloning, the human genome project, solid-state genotyping technologie

246 g studied before the productive phase of the Human Genome Project.

247 ances, such as the Allen Brain Atlas and the Human Genome Project.

248 ontal pleiotropy is pervasive throughout the human genome, prominent among highly polygenic phenotype

249 s, yet their genome is roughly 100 times the human genome, providing significantly more genetic diver

250 iversity, and is not well represented in the human genome reference.

251 criptional networks, thereby contributing to human genome regulation.

252 It can be an important resource for the human genome-related biomedical studies, such as cancer

253 ng the three-dimensional organization of the human genome represents a major research goal.

254 half of the research community, the National Human Genome Research Institute recently completed a mul

255 d Digestive and Kidney Diseases and National Human Genome Research Institute.

256 Mutation of the human genome results in three classes of genomic variati

257 Coanalysis with human genomes reveals aspects of dog population history

258 head of these methods remain prohibitive for human-genome-scale data.

259 In interphase, the human genome sequence folds in three dimensions into a r

260 ch sites have been precisely resolved on the human genome sequence(6).

261 ex approximately 3.6 million DHSs within the human genome sequence, providing a common coordinate sys

262 For diploid human genomes sequenced to 30x HiFi coverage, HiCanu ach

263 und in the world-wide population revealed by human genome sequencing efforts and the highly variable

264 Human genome sequencing efforts have greatly expanded, a

265 With further, more accurate human genome sequencing, additional mutation hotspots, m

266 scovery of single nucleotide variants in the human genome, stimulating the development of predictors

267 DNA rearrangements resulting in human genome structural variants (SVs) are caused by div

268 ncy by which the m6dA mark occurs within the human genome, suggesting that m6dA marks are precisely i

269 Analysis of yeast, fly and human genomes suggests that sequence divergence is not t

270 roduce a new data set of RNA elements in the human genome that are recognized by RNA-binding proteins

271 oncept of urbanome which is analogous to the human genome that can be used to characterise the form a

272 ylation is an epigenetic modification of the human genome that has been associated with both cigarett

273 ap to over 48,000 orthologous regions in the human genome that include regions in genes linked to dea

274 encode protein, yet the exact portion of the human genome that is translated remains to be ascertaine

275 ally, single nucleotide polymorphisms in the human genome that occur near the region syntenic to the

276 Efforts to link variation in the human genome to phenotypes have progressed at a tremendo

277 n humoral immune response to find 30% of the human genome transcribed during this process, yet 58% of

278 De novo assembly of a human genome using nanopore long-read sequences has been

279 Human genome variation in conferring risk for A(H7N9) in

280 nologies have proven their use in cataloging human genome variation, computational analysis of the da

281 chnologies and a deeper understanding of the human genome, we are now in a strong position to more fu

282 overage of all 28 million common CpGs in the human genome, we assay methylation in MDD cases and cont

283 etic diversity and the diploid nature of the human genome, we hypothesize that using a generic refere

284 Reads not aligning to the human genome were analyzed using an in-house pipeline to

285 our method to tandem repeat sequences in the human genome, where it demonstrates the different behavi

286 o error correct Rmap data generated from the human genome, whereas Elmeri required less than 15 CPU h

287 all proportion of the total CpG sites in the human genome, which considerably limited the scope of th

288 esolve the cis-regulatory compartment of the human genome, which encodes unexpectedly diverse cell- a

289 Evidence from preclinical studies and human genome-wide analyses, supported by new molecular a

290 linked TGF-beta signaling to emphysema, and human genome-wide association studies (GWAS) studies of

291 Human genome-wide association studies (GWAS), transcript

292 Human genome-wide association studies have linked polymo

293 To gain insights, we performed a human genome-wide CRISPR/Cas9 screen in Burkitt lymphoma

294 with an efficient algorithm that can analyze human genome-wide data within a few hours.

295 ns of T cell receptors (TCRs) from viral and human genome-wide libraries.

296 database for evaluating motif matches to the human genome with both reference and variant alleles and

297 Malaria has had a major effect on the human genome, with many protective polymorphisms-such as

298 circular RNA from a random genomic locus on human genome, with potential biogenesis factors of circu

299 codon pairs that are overrepresented in the human genome without changing overall codon usage and am

300 Knots in the human genome would greatly impact diverse cellular proce