ライフサイエンスコーパス: genomic

1 genomes is one of the ultimate challenges in genomics.

2 ontributions to the scientific literature in genomics.

3 is limited, even with the promise of modern genomics.

4 ignment is central to many aspects of modern genomics.

5 ing all lead to different policy options for genomics.

6 es and publicly available datasets in cancer genomics.

7 ocess that can reveal the timing of specific genomic aberrations and the changing influence of mutati

8 op 'Understanding Human Birth Defects in the Genomic Age' held in the UK in November 2019, identifyin

9 rom 2,554 prostate tumours revealed that the genomic alteration signatures in Chinese patients were m

10 sent a link between inflammation and somatic genomic alterations and are thus key targets for cancer

11 In cases without perinatal sentinel events, genomic alterations contributed substantively to the dia

12 Prime editing enables diverse genomic alterations to be written into target sites with

13 he advent of genomic technologies, recurrent genomic amplification has been mapped throughout the gen

14 Focal copy-number increases (genomic amplification) pinpoint oncogenic driver genes a

15 Genomic analyses of these isolates along with those isol

16 Genomic analyses revealed that Hnf4a directly regulates

17 Recent genomic analyses revealed that the coding regions of PbA

18 Genomic analyses suggest an average window of over three

19 Our work, including genomic analyses, phenotypic assays, and identification

20 Five clades, determined by genomic analysis and named by the distinct regions where

21 We hypothesize that genomic analysis between pre-invasive and invasive compo

22 These findings demonstrate that integrative genomic analysis of dietary information may reveal molec

23 Our cross-species comparative genomic analysis provides unique insights into glioma et

24 Genomic analysis revealed adaptations to oxygen-limitati

25 Finally, a more thorough genomic analysis was performed, using CRISPR-Cas9 to del

26 According to genomic analysis, S. suis is divided into asymptomatic c

27 ata provide a unique description of the ASCP genomic and epigenomic landscape and identify candidate

28 iling to determine the clinically actionable genomic and epigenomic landscapes of N/S HNSTs.RESULTSWh

29 h region as SERBP1-binding motif; subsequent genomic and functional analyses establish SERBP1 regulat

30 Genomic and genetic studies often require a target list

31 Here we present DeepRiPP, an integrated genomic and metabolomic platform that employs machine le

32 e suggest that recent knowledge gleaned from genomic and neuroimaging investigations of eating disord

33 ighly complex virome implies the substantial genomic and pan-genomic complexity of the LUCA itself.

34 ing a trait-based approach that incorporated genomic and phenotypic information, we characterized the

35 Population genomic and subcellular localization analyses strongly s

36 eloped recombinant strains of SINV that have genomic and subgenomic viral RNAs tagged with the Brocco

37 oss of VHL through analysis of primary tumor genomic and transcriptomic data.

38 Coupling pharmacologic data with genomic and transcriptomic information, we showed that P

39 te characterization and visualization of the genomic and transcriptomic landscape of single cell and

40 ction electrophoresis to augment the heavily genomic and transcriptomic single-cell atlases with prot

41 and other aspects of their biology, numerous genomic and transcriptomic studies have been performed,

42 o integrate the body of knowledge on Xenopus genomics and biology together with the visualization of

43 Comparative genomics and phylogenetic analyses within the Malassezia

44 proach is a tool for studying bee functional genomics and potentially for safeguarding bee health.

45 ultistriata Here, we describe how functional genomics and reverse genetics have contributed to our un

46 Using comparative genomics and surface plasmon resonance, we identified pa

47 aluable resource for the fields of virology, genomics, and human disease genetics.

48 tter term, first coined by the Evaluation of Genomic Applications in Practice and Prevention Initiati

49 tly prioritized with a convergent functional genomics approach using previous evidence in the field i

50 we evaluate how comparative, anatomical and genomic approaches have informed our current understandi

51 We here apply comparative genomic approaches to generate the first genome-wide est

52 In this Review, we discuss how genomics approaches have advanced our understanding of K

53 Since most dramatic changes in genomic architectures are caused by genome rearrangement

54 edicine contributes to growing evidence that genomic assessment of non-dysplastic BE samples can iden

55 nct from both protein-coding transcripts and genomic background noise in terms of length, number of e

56 These results set the stage for genomics-based approaches in conservation strategies.

57 red DNA is sufficient to predict the complex genomic behaviour of STRs, including abundance and mutat

58 on of Ucp1 and Pgc-1alpha with impaired ATF2 genomic binding.

59 t al employs a full court press of genetics, genomics, biochemical, and advanced analytical technique

60 ysis is a widely used approach for detecting genomic biomarkers.

61 ces appearance of dozens of robust recurrent genomic break clusters, termed RDCs, in cultured primary

62 ns due to kataegis in close proximity to the genomic breakpoints and with the activation of specific

63 erged as an important technique in bacterial genomics, but cost and labor requirements limit large-sc

64 s DSBs via their ability to join to specific genomic Cas9/single-guide RNA-generated bait DSBs.

65 e to diethyl phthalate results in measurable genomic changes in breast tissue with implications in br

66 atching patients and treatments based on the genomic characteristics of an individual and their tumou

67 Here, we provide a complete genomic characterization of 55 representative Latin Amer

68 landscape of breast cancer genomics with the genomic characterization of tumors offering exceptional

69 s reveal a mosaic of conserved and divergent genomic characters evolved from a shared ancestral genet

70 on histopathology and clinical presentation, genomic classification enables earlier treatment for hig

71 roRNAs (miRNAs), 15 of which map to a single genomic cluster that is exclusive to eutherians.

72 we infer the history of vertebrates through genomic comparisons with a new chromosome-scale sequence

73 rome implies the substantial genomic and pan-genomic complexity of the LUCA itself.

74 variation at "neutral" sites near functional genomic components.

75 e psychiatric disorders from the Psychiatric Genomics Consortium-schizophrenia (SCZ), bipolar disorde

76 can also analyze any epigenetic signal with genomic coordinates.

77 Genomic correlates of CTR and OS in IU-CRLM have not bee

78 We find moderately strong genomic correlation in puberty timing between sexes (rg

79 ansferred plasmids and permanently stored in genomic CRISPR arrays.

80 potential applications for plant functional genomics, crop improvement and crop protection, but the

81 Analyzing genomic data across populations is central to understand

82 Viral genomic data allowed us to reconstruct mumps transmissio

83 ped Epiviz as an integrative and interactive genomic data analysis tool that incorporates visualizati

84 Using phenotypic and genomic data from over 100,000 UK Biobank participants,

85 ing data from The Cancer Imaging Archive and genomic data from The Cancer Genome Atlas from 110 patie

86 However, the sheer volume and complexity of genomic data presents a challenge to interpreting enhanc

87 Previously published comparative functional genomic data sets from primates using frozen tissue samp

88 Widely accepted 'genomic data sharing beacon' protocol provides a standar

89 he efficiency and scalability to process big genomic data, particularly when annotating whole-genome

90 s dramatically increased the availability of genomic data, phased genome assembly and structural vari

91 integrating multiple sources of genetic and genomic data, we show that putative G-quadruplex forming

92 ing these measurements with population-scale genomic data, we show that the response of a model repli

93 etect disease susceptibility loci for clinic genomic data.

94 to accommodate constantly growing microbial genomic data.

95 to store, update, explore, and analyze phage genomics data.

96 Our analysis of cancer genomic databases showed that patients with wild-type RB

97 t of this conventional wisdom, we analyzed a genomic dataset for 166 translocated desert tortoises (G

98 By evaluating our mechanism on different genomic datasets, we empirically demonstrate that our pr

99 In this work, focusing on genomic datasets, we show this drawback of the DP and we

100 rdized and secure interface for querying the genomic datasets.

101 ion in regenerating transgenic fish, and its genomic deletion perturbed caudal fin regeneration and a

102 Genomic deoxyribonucleic acid was genotyped for the rs46

103 y interpretable results for phenotype-driven genomic diagnostics.

104 finding from a clinicomolecular diagnosis of genomic disease.

105 el sequencing technologies has revealed that genomic disorders and monogenic aetiologies contribute m

106 vo emergence of MDR-TB was assumed where the genomic distance was 5 or fewer single-nucleotide polymo

107 Genomic diversity and characterization were performed by

108 domestication genes with drastically lowered genomic diversity in the cultivated but not wild rubber

109 Their genomic diversity is enormous; actinobacteriophages comp

110 ghts our still preliminary assessment of the genomic diversity of eukaryotic viruses, reinforcing the

111 Using data from two publicly available human genomic diversity resources, we estimated the age of mor

112 The organization of genomic DNA into nucleosomes profoundly affects all DNA-

113 Genomic DNA is folded into a higher-order structure that

114 osome inactivation ratios were determined in genomic DNA isolated from blood (n = 42) and saliva (n =

115 The association of nucleosomes with most genomic DNA prevents initiation from cryptic promoters.

116 ed to three different gRNAs targeting HEK293 genomic DNA, resulting in a set of 55 high-confidence gR

117 Persistent protein obstacles on genomic DNA, such as DNA-protein crosslinks (DPCs) and t

118 ed in the circulation by both mRNA-based and genomic DNA-based sequencing.

119 s) enable targeted C*G-to-T*A conversions in genomic DNA.

120 pled with the ability to precisely target by genomic editing most areas of the genome, is producing i

121 nly able to produce an inconsistent range of genomic editing rates between 0.03-3%.

122 N-protein condenses with specific RNA genomic elements under physiological buffer conditions a

123 ome-assembled genomes often exclude repeated genomic elements, such as mobile genetic elements, compr

124 selection on drought stress, and can inform genomics-enabled breeding for climate-resilient cereals.

125 Our results show how genomic epidemiology can help to understand the link bet

126 gunya viruses, to demonstrate the utility of genomic epidemiology to support the prevention and contr

127 t can exhibit subclonal heterogeneity at the genomic, epigenetic and phenotypic levels.

128 Using genomic estimates of realized inbreeding, we discovered

129 Despite this, the genomic events that drive metastatic recurrence are poor

130 or using paleo-climatic, archaeological, and genomic evidence to establish the timing of and conditio

131 coalescent, which assumes a neutral model of genomic evolution, and those are best suited for organis

132 tial of unveiling new functionalities of the genomic expressions, which might be dormant in a single-

133 fied over 90 putative bacterial and archaeal genomic families and nearly 300 previously unknown gener

134 nts against a huge database with billions of genomic features.

135 (bits) representing the genomic positions of genomic features.

136 The expected genomic footprints of population genetic models of sweep

137 evolution from dicistronic to monocistronic genomic form within the family Dicistroviridae To our be

138 Recent advancements in genomics have made it easier than ever to investigate th

139 -tumor matched data and can be confounded by genomic heterogeneity and presence of sub-clonal mutatio

140 upport for the phylogeny contrasts with high genomic heterogeneity in phylogenetic signal and introgr

141 We used pan-genomic HIF-binding and transcriptomic data to identify

142 Current genomic HPV genotyping algorithms use a simple read-alig

143 fferent antibodies), array-based comparative genomic hybridization and targeted next generation seque

144 Genomic imprinting and X-chromosome inactivation (XCI) a

145 Genomic imprinting establishes parental allele-biased ex

146 Genomic imprinting is an epigenetic phenomenon leading t

147 Considering the importance of genomics in the development of any crop, this analysis u

148 genome editing has revolutionized functional genomics in vertebrates.

149 e ways that such data can be complemented by genomic information and linked back to extant communitie

150 s essential for the cell as the integrity of genomic information guaranties reproduction of a whole o

151 to translate the deluge of microbiome-based genomic information into a catalog of microbial traits.

152 Genomic instability (GI) predisposes cells to malignant

153 nscriptional R-loops and DNA damage to avert genomic instability and neurodegeneration in SMA.

154 of BCCIP function was sufficient to trigger genomic instability and tumorigenesis.

155 e propagation of cells with a high degree of genomic instability remain unclear.

156 R loops arising during transcription induce genomic instability, but how cells respond to the R loop

157 ochondrial dysfunction, telomere shortening, genomic instability, epigenetic changes, protein aggrega

158 due to poor tumor cellularity and extensive genomic instability.

159 -stranded DNA) create DNA damage and lead to genomic instability.

160 ATR plays a crucial role in maintaining genomic integrity by responding to a large spectrum of D

161 le in DNA replication and the maintenance of genomic integrity.

162 ts well-established role in safeguarding the genomic integrity.

163 Here we map genomic interactions for each parental genome (including

164 We identify more than 8000 genomic interactions in each PEL cell line.

165 abetes mellitus (T1DM) affects long-distance genomic interactions.

166 (eQTL) information to help annotate a set of genomic intervals in terms of transcription regulation.

167 sistome features, therefore facilitating pan-genomic investigation of ARGs.

168 ne repertoire including the acquisition of a genomic island strongly enriched in glycosyltransferase

169 Two open reading frames predicted from the genomic islands coded for enzymes belonging to the Nitro

170 2SigFinder is more efficient in identifying genomic islands.

171 studies of emerging species have identified genomic "islands" of elevated differentiation against a

172 es and the infusion of molecular biological, genomic, isotopic, and geochemical modeling approaches h

173 larify this point, we have characterized the genomic landscape of 34 BI-ALCLs (15 tumor and 19 in sit

174 To increase understanding of the genomic landscape of acral melanoma, a rare form of mela

175 (Hi-C)(1,2) analysis has revealed a complex genomic landscape of internal chromosomal structures in

176 erall goal of this study was to describe the genomic landscape of myeloma using deep whole-genome seq

177 We assessed the genomic landscape of sRCC using targeted panel sequencin

178 Its unique genomic landscape shaped by oncogenic drivers promotes i

179 , Vdelta1 and Vdelta2 PCGDTLs harbor similar genomic landscapes with potentially targetable oncogenic

180 Genomic location of the overlapping deleted region start

181 DNA replication initiates from multiple genomic locations called replication origins.

182 The genomic locations of SRTs are recovered from mRNA, and S

183 DNA double-strand breaks (DSBs) at specific genomic locations that correspond to PRDM9-binding sites

184 splicing when introduced in their endogenous genomic locations.

185 ein pool to protect exposed ssDNA and repair genomic loci affected by DNA damage.

186 is now possible to visualize not only single genomic loci but the whole genome simultaneously.

187 RNA polymerase transcribes certain genomic loci with higher errors rates.

188 mechanisms bridging the association of their genomic loci with IR.

189 durable engraftment with edits at all three genomic loci.

190 Although conventional genomic markers (such as tumor mutation burden and neoan

191 omains from the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, a ra

192 ther low-resource settings, thereby bringing genomic medicine in these countries closer to clinical f

193 Here we report ac(4)C-seq, a chemical genomic method for the transcriptome-wide quantitative m

194 ntial challenge: the need to erase and reset genomic methylation(1).

195 Genomic occupancy analysis revealed that the repertoire

196 Population genomics offers innovative approaches to test hypotheses

197 alth of structured and standardized genetic, genomic, phenotypic, and disease-related data for eight

198 nality were reliably inferred from different genomic platforms, and these characteristics displayed m

199 nation and selection, which is attributed to genomic position and the kinetics of lineage commitment.

200 sed of binary digits (bits) representing the genomic positions of genomic features.

201 values between siblings is a strong test of genomic prediction in humans.

202 We use genomic profiling to reveal strong and broad loss of neu

203 the biology of relapse through comprehensive genomic profiling, incorporation of molecularly targeted

204 Our study provides insights into the genomic properties of structural variant classes and sho

205 We integrate the genomics, proteomics, and phosphoproteomics of 480 clini

206 elements (including prophages) combined with genomic rearrangements.

207 We mapped this trait difference to a single genomic region and, using third generation, long-read se

208 asurements and Main Results: We discovered a genomic region at 1q32 that was significantly associated

209 ensable genes are associated with hemizygous genomic regions affected by structural variants, which o

210 sensitivity sequencing (MH-seq), to identify genomic regions associated with open chromatin in Arabid

211 y linked to wing-color pattern loci or other genomic regions associated with visual mate preference.

212 These allele-specific CNAs affect genomic regions containing well-known breast-cancer gene

213 nspositional insertions into piRNA clusters, genomic regions encoding the Piwi-interacting RNAs (piRN

214 fer the true copy number status of genes and genomic regions from whole exome sequencing data.

215 Multi-enhancer interactions formed at genomic regions harboring genes with prominent roles in

216 sally associated with the risk of CAD within genomic regions known to be associated with CAD.

217 Targeting highly conserved genomic regions make pan-family assays robust and resili

218 reated, for example, by duplication of large genomic regions or de novo, from previously non-coding D

219 Whether the SNPs in different genomic regions play different roles in trait heritabili

220 ility of optical mapping for the analysis of genomic regions that are difficult to sequence.

221 ng the evolutionary degeneration expected at genomic regions that cannot freely recombine.

222 ce of migration all map to a small number of genomic regions that do not overlap with results from ot

223 onsistent, deep coverage of information rich genomic regions to characterize polyclonal Plasmodium fa

224 The genomic regions under selection between cattle breeds si

225 led to the identification of new, unexplored genomic regions with roles in trichome formation in toma

226 of human chromosome 21 or orthologous mouse genomic regions, are providing valuable insights into th

227 sequences derived from natively differential genomic regions, identifying E-box motifs common to epit

228 posit the histone variant H3.3 into specific genomic regions.

229 n of oligonucleotides hybridized to selected genomic regions.

230 Those iMs appear to be genomic regulatory elements and might modulate transcrip

231 oid receptor (GR) and STAT3 bind to the same genomic regulatory regions, which were specifically open

232 was diagnosed, WGS was used to determine the genomic relatedness between initial and subsequent isola

233 TR sequence and secondary structure on their genomic representation and mutability.

234 Modern genomic research is driven by next-generation sequencing

235 g these data has become a major challenge in genomic research.

236 een devised to address the need for targeted genomic resequencing.

237 Elements (ENCODE) project has established a genomic resource for mammalian development, profiling a

238 rmed by advances in technology, foundational genomic resources and analytical tools, and by access to

239 review, we provide an overview of functional genomic resources and methods that can be used to interp

240 attention for conservation, but the lack of genomic resources for Dalbergia hinders evolutionary stu

241 e enset genome to develop molecular markers, genomics resources, and characterize enset landraces whi

242 Genomic risk for alcohol use was enriched in gene sets t

243 ssociation study (GWAS) identified one novel genomic risk locus on chromosome 8 (lead SNP rs17052966,

244 s, aggregated into a polygenic score, enable genomic risk stratification, and to test whether alcohol

245 diffusely distributed in the cytoplasm with genomic RNA also in perinuclear vesicle-like structures

246 egavirales, utilizes a complex consisting of genomic RNA, nucleoprotein, the RNA-dependent RNA polyme

247 ng CRISPR screening and guilt-by-association genomic search strategies.

248 We perform deep sequencing across the DAP1 genomic segment in 2032 SLE patients, and healthy contro

249 nd interrogation of the functions of sizable genomic segments in mammalian cells represent important

250 uired in genome-wide association studies and genomic selection.

251 t from genome bins and show that substantial genomic sequence variation is present in a real metageno

252 mic sequences, as the relative activities of genomic sequences are best explained by the predicted oc

253 bust, and cost-efficient, and generates full genomic sequences of diverse strains of HIV without bias

254 This grammar plays only a small role for genomic sequences, as the relative activities of genomic

255 Modern genomic sequencing efforts are identifying potential dia

256 omized, controlled trial of rapid diagnostic genomic sequencing of infants in regional ICUs.

257 Genomic sequencing revolutionized the epidemiological un

258 Genomic sex estimates were 100% consistent with proteomi

259 resent that may benefit the host, as well as genomic signatures of host association and immune system

260 idization across species pairs contrast with genomic signatures of past introgression.

261 To explore the genomic signatures, we comprehensively analyzed 2,492 co

262 spiratory and systemic strains with distinct genomic signatures.

263 olled and efficient DSB formation at defined genomic sites and will be valuable tools to study DSB re

264 he passaged viruses, demonstrating long-term genomic stability of complex VSV recombinants carrying l

265 can4 is involved in telomere maintenance and genomic stability of mouse embryonic stem cells.

266 The maintenance of genomic stability relies on DNA damage sensor kinases th

267 critical role in regulating gene expression, genomic stability, and cell fate commitment.

268 e that regulates transcription and maintains genomic stability.

269 a role for this modification in safeguarding genomic stability.

270 nes from the MIxS standards developed by the Genomics Standard Consortium (GSC) and adopted by the th

271 t how cells respond to the R loop-associated genomic stress is still poorly understood.

272 More recently, large-scale genomic studies have expanded the clock into a complex n

273 While recent genomic studies have partly clarified the complex relati

274 Those results are congruent with genomic studies indicating a genetic continuity within t

275 e execution of such studies, particularly in genomic studies of human cancer.

276 Genomic studies performed in cancer patients and tumor-d

277 Recent genomic studies together with in vitro measurements sugg

278 cation from new phylogenies, archaeology and genomic studies.

279 B. distachyon, which will aid in functional genomics studies of other C3 grasses.

280 n repressive elements in the loci, forming a genomic subcompartment, rather than by cohesion/CTCF-med

281 We also implemented approaches using genomic subsets to account for phylogenetic uncertainty

282 ch needed incorporation of plasmid data into genomic surveillance systems, an essential step toward a

283 We conducted a genomic survey of clinical polymyxin-resistant (PR) Kleb

284 entionally defined as AG-rich motifs, recent genomic surveys reveal great sequence diversity, questio

285 generate C-to-T nucleotide substitutions in genomic target sites without inducing double-strand brea

286 cing are sufficient to produce 3D maps of 36 genomic targets across six chromosomes in hundreds to th

287 s of distinct plant groups using comparative genomic techniques is now feasible.

288 With the advent of genomic technologies, recurrent genomic amplification ha

289 We combined functional genomics to identify a missing pathway enzyme, protein e

290 s the most compelling recent applications of genomics to investigate the mechanisms underpinning bee

291 thus genome expands the power of comparative genomics to understand traits of importance to Andropogo

292 We compare the multiple mouse systems and genomic tools that are commonly used for in vivo screens

293 rivation from dysplastic lesions facilitated genomic, transcriptional and functional evaluation of ga

294 gence of drug resistance: inference based on genomic, transcriptomic, epigenomic and/or proteomic ana

295 High-throughput technologies for genomics, transcriptomics, proteomics, and metabolomics,

296 largest openly accessible catalogue of human genomic variation developed from samples spanning five c

297 Linking genomic variation to phenotypical traits remains a major

298 tween CRCs due to intertumoral molecular and genomic variation, and differences in environmental mili

299 Among those tools is single-virus genomics, which yields sequenced reference genomes from

300 insight into the landscape of breast cancer genomics with the genomic characterization of tumors off