ライフサイエンスコーパス: phenome

1 S and many behavioral traits, the behavioral phenome.

2 odels of the relationship between genome and phenome.

3 electronic health record (EHR) to define the phenome.

4 viduals and associated across the text-based phenome.

5 t they share signs with the BioVU-associated phenome.

6 ol levels, smoking, and diabetes with the AD phenome.

7 genes between lipids and diseases across the phenome.

8 ssion to account for correlations within the phenome.

9 nsight into associations across the clinical phenome.

10 ow the exposome shapes a single individual's phenome.

11 yeast knockout screens, which we call Yeast Phenome.

12 ss gene-disease probabilities throughout the phenome.

13 quences of T-cell fractions across the human phenome.

14 g utility in explaining the observed medical phenome.

15 the causal effect of risk factors on the AD phenome.

16 ing iron status on outcomes across the human phenome.

17 diated genic associations across the medical phenome.

18 ors for Alzheimer's disease (AD) and the "AD phenome": AD, AD age of onset (AAOS), hippocampal volume

19 the current status of agricultural genome to phenome (AG2P) work and envision the future of the AG2P

20 tudy provides the first comprehensive genome-phenome analyses of B. cenocepacia infection in cystic f

21 ata can transform understanding of the human phenome and accelerate progress toward precision medicin

22 the discovery of clinically relevant disease phenome and associated biological mechanisms.

23 h, which characterizes phenotypes as a whole phenome and systematically studies the molecular changes

24 ome network, as well as its integration with phenome and transcriptome data sets, lead to numerous bi

25 f blood pressure to identify genes, tissues, phenomes and medication contexts of blood pressure homeo

26 emerging knowledge about the corresponding "phenomes" and the relevant environmental influences.

27 enotypic traits of holobiont partners (i.e., phenomes), and skeleton morphologies.

28 tegrate our current knowledge on the genome, phenome, and environome across the CHD lifespan.

29 bgroups, bridging the gap between genome and phenome, and facilitating the identification of genetic

30 Similar integration of interactome, phenome, and transcriptome data should be possible for o

31 Last, we performed a comparative analysis of phenome- and genome-wide associations to identify putati

32 Lastly, we performed phenome- and lab-wide association analyses, which uncove

33 Our method implements a whole-phenome approach toward disease gene discovery and can b

34 t for submitting data to the European Genome-phenome Archive (EGA) through SRA, and the launch of a n

35 an Nucleotide Archive (ENA), European Genome-phenome Archive (EGA), ArrayExpress and PRoteomics IDEnt

36 45 and PRJNA324705; from the European Genome-phenome Archive under accessions EGAD00001004352 and EGA

37 Cancer Cohort, the federated European Genome-phenome Archive, the Observational Medical Outcomes Part

38 Genome Atlas (TCGA), and the European Genome-Phenome Archive.

39 Here, we introduce the Metagenomics Genome-Phenome Association (MetaGPA) study framework, which all

40 Genome-phenome association studies have created large datasets

41 and can go from raw genetic data to genome: phenome association visualization and analyses results i

42 ents while simultaneously linking genomes to phenomes at the single-cell level.

43 Our phenome-based approach leveraged phenome-wide associatio

44 In conclusion, our phenome-based functional analysis of the C. neoformans T

45 Previous phenome-based functional analysis of the C. neoformans T

46 CD9) codes are used frequently to define the phenome, but using ICD9 codes alone misses other clinica

47 such as the UK Biobank (UKB), enable massive phenome by genome-wide association studies that elucidat

48 efforts to functionally annotate genomes and phenomes by in-house curators.

49 The results demonstrated that the phenome can be further analyzed by a generative model, w

50 s in mice, analyzing the genomes of 42 Mouse Phenome Consortium priority strains.

51 ble manner, incorporating lifelong and whole-phenome context.

52 The Mouse Phenome Database (MPD) is an open source, web-based repo

53 ent published studies deposited in the Mouse Phenome Database (MPD).

54 The Mouse Phenome Database (MPD; phenome.jax.org) was launched in

55 The Mouse Phenome Database is a repository of phenotypic and genot

56 en the complex traits deposited in the Mouse Phenome Database with our genotypes.

57 A database and website (MPD: Mouse Phenome Database) have been developed to serve as a cons

58 In a subset of blood tests from the Mouse Phenome Database, dFI increased exponentially and predic

59 purified from 39 inbred strains of the Mouse Phenome Database.

60 data in a central public database, the Mouse Phenome Database.

61 port on RGD's development towards creating a phenome database.

62 collaborative efforts and accessible genome-phenome databases have partially elucidated the genomic

63 context of large population-level genome and phenome databases.

64 ion study (PheWAS) of bipolar disorder using phenomes derived from the electronic health records of p

65 uces latent variables (topics) to govern the phenome distribution.

66 dation and compared it to a state-of-the-art phenome-driven DTI prediction approach.

67 argetPredict outperformed a state-of-the-art phenome-driven DTI prediction system as measured by prec

68 One challenge in human phenome-driven DTI predictions is integrating and modeli

69 th System EHR to test the replication of the phenome enrichment using the same phenotyping and analys

70 a more robust representation of the medical phenome for global use in discovery research.

71 al opportunities and challenges in genome to phenome (G2P) research is the focus of this paper.

72 two-step procedure in bridging the genome to phenome gap where external phenotypes are viewed as emer

73 PhenoHM is a human-mouse comparative phenome-genome server that facilitates cross-species ide

74 The phenome has been also explored for drug repositioning wi

75 rom advances in genomics, profiling the crop phenome (i.e., the structure and function of plants) ass

76 tematic characterization of pQTLs across the phenome identified protein-drug-disease links and eviden

77 Member 6 (CYP2A6), we investigated the human phenome in a total of 11,271 individuals.

78 with analysis of the blood pressure clinical phenome in MVP.

79 The behavioral phenome included 50 traits from the domains of psychopat

80 We developed our model on the phenome information in Side Effect Resource (SIDER).

81 hotspots act as epigenetic marks that create phenome instability; high prevalence favors cooccurring

82 iological information from the genome to the phenome is an important step in discovering new experime

83 mpact of one or more genetic variants on the phenome is starting to be characterized both in clinical

84 hasizes that the immune effector and memory "phenome" is a function of the overall infection experien

85 The Mouse Phenome Database (MPD; phenome.jax.org) was launched in 2001 as the data coordi

86 We compared this map to a phenome map of the germline obtained by RNA interference

87 the genetic insights derived from genome-to-phenome mapping have not yet been incorporated in predic

88 conditions, increasing the possibilities for phenome mapping in C. elegans.

89 mportant new perspective: that the genome-to-phenome mapping of social organisms might be organized t

90 from both large-scale phenotypic analysis ("phenome mapping") and transcriptome profiling.

91 unbiased understanding of the transcriptome-phenome mapping.

92 ciations between the methylome, proteome and phenome may provide insight into biological pathways gov

93 ematic study of its effects across the human phenome may uncover novel associations.

94 knockins) under the scope of genome/proteome/phenome, may provide a more complete understanding of th

95 lite profiles associated with an adverse CVD phenome (myocardial structure/function, fitness, vascula

96 Here, we present the genomes and phenomes of 157 industrial Saccharomyces cerevisiae yeas

97 h, width, and color, to generate single-hair phenomes of diverse conditions across the lifespan of mi

98 analysis generates a comprehensive "disease phenome" of real-world patients computed from large, noi

99 aradigm takes advantage of a curated medical phenome, often derived from electronic health records, t

100 in in a manner that did not correlate to the phenome previously described.

101 rols who were enrolled as part of the Autism Phenome Project and were of a similar age, 2-4 years old

102 The Mouse Phenome Project was launched a decade ago to complement

103 rdination center for the international Mouse Phenome Project.

104 of whom were enrolled as part of the Autism Phenome Project.

105 ssociation studies, sequencing and the Mouse Phenome Project.

106 d strains from priority group A of the Mouse Phenome Project.

107 e and environment is a step toward the Human Phenome Project.

108 able users to integrate and interpret genome-phenome relations across the database.

109 everse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts.

110 aligning sequences to modeling the genome-to-phenome relationship.

111 characterization of the complex human genome-phenome relationship.

112 The phenome represents a distinct set of information in the

113 markers correlated with the index phenotype (phenome scan).

114 This tool aims to facilitate 'phenome scans', the cross-referencing of genetic variant

115 This online tool facilitates 'phenome scans', where genetic variants are cross-referen

116 es to predict the specifics of a given human phenome (set of all expressed phenotypes) encoded by eac

117 ects of genetically predicted BMR across the phenome sex-specifically.

118 Next, we applied the model on the whole phenome to narrow down repositioning candidates and sugg

119 , ADH1B may be a gene relevant for the human phenome via both alcohol metabolism-related mechanisms a

120 an alternative to ICD9 coding, a text-based phenome was defined by 23 384 clinically relevant terms

121 For a comprehensive analysis of the phenome, we assumed that all phenotypes (indications and

122 hallenges in our ability to capture disease "phenomes." We propose a previously unreported method for

123 nsidering the interwoven nature of the human phenome when evaluating public health patterns.

124 This genome-phenome wide association study (GPWAS) is both a multi-m

125 notypes were assessed with the multivariable Phenome Wide Association Study (PheWAS) method.

126 approach to investigate disease associations phenome wide for 412,181 Finnish individuals and 2,459 d

127 various tools such as genome-wide (GWAS) and phenome-wide (PheWAS) association studies.

128 Phenome-wide analyses and genome-wide association studie

129 Phenome-wide analyses in >350,000 UK Biobank participant

130 Phenome-wide analyses of 365 outcomes in UK Biobank did

131 Phenome-wide analyses on 311 complex traits and endpoint

132 Moreover, by performing biobank phenome-wide analyses, we find that IBD genes have pleio

133 notypes to boost computational efficiency in phenome-wide analyses.

134 A phenome-wide analysis across 953 disease endpoints revea

135 d assessment of the retinal vasculature with phenome-wide and genome-wide analyses may yield new insi

136 Phenome-wide application of GLMMs identifies phenotypes

137 An intensive phenome-wide assessment of a single human was performed

138 innovations such as cellular GWA studies and phenome-wide association (PheWA) studies as well as by i

139 tailed clinical data available, we performed phenome-wide association analyses between individual CNV

140 k participants and performed hypothesis-free phenome-wide association analyses between major depressi

141 34,706 UK Biobank participants and conducted phenome-wide association analyses considering 2,291 fact

142 Cardiovascular phenome-wide association analyses did not identify addit

143 Mendelian randomization-phenome-wide association analyses identified novel assoc

144 tropic effects of QT interval variants using phenome-wide association analyses in 302 000 unrelated i

145 l infarction and Alzheimer's disease (AD) in phenome-wide association analyses in the Michigan Genomi

146 Phenome-wide association analyses in the UK Biobank show

147 We performed phenome-wide association analyses to test their associat

148 In phenome-wide association analyses, we demonstrate the as

149 Additionally, phenome-wide association analysis demonstrated that TRIM

150 Phenome-wide association analysis in the UK Biobank demo

151 A phenome-wide association analysis of over 1,410 traits i

152 A phenome-wide association analysis using the POE mQTL SNP

153 stigations using Mendelian randomization and phenome-wide association analysis were conducted.

154 Furthermore, our phenome-wide association analysis with socioeconomic fac

155 ge linked analyses were conducted, including phenome-wide association analysis, polygenic risk score

156 Our phenome-wide association and Mendelian randomization ana

157 Phenome-wide association is a novel reverse genetic stra

158 calization, immune-cell-type enrichment, and phenome-wide association methods to investigate the effe

159 stenosis (remaining n=308 683 individuals), phenome-wide association of >10 000 traits showed multip

160 ariant in an electronic medical record-based phenome-wide association scan of over 9000 AAs.

161 Phenome-wide association scanning showed that CCDC92 lik

162 cal records (EMRs) offers the possibility of phenome-wide association scans (PheWAS) for disease-gene

163 Phenome-wide association studies (PheWAS) have been used

164 In the past 10 years since its introduction, phenome-wide association studies (PheWAS) have uncovered

165 Additionally, we employed Phenome-Wide Association Studies (PheWAS) to select two

166 clinical and population-based settings using phenome-wide association studies (PheWAS).

167 variants in MYBPC3 and MYH7 for gene burden phenome-wide association studies (PheWAS).

168 Phenome-wide association studies (PheWASs) have been a u

169 SIGN, SETTING, AND PARTICIPANTS: A series of phenome-wide association studies (PheWASs) of polygenic

170 Phenome-wide association studies (PheWASs) offer an alte

171 Our phenome-based approach leveraged phenome-wide association studies (PheWASs) to identify e

172 However, standard phenome-wide association studies analyze associations wi

173 PRS-based phenome-wide association studies further demonstrated ro

174 Finally, phenome-wide association studies in the 39,000 participa

175 In comprehensive phenome-wide association studies involving 102,138 eMERG

176 For example, Phenome-Wide Association Studies may have a wide range o

177 Individual-level phenome-wide association studies of height and a height

178 inkage disequilibrium is widespread in naive phenome-wide association studies of proteins.

179 We then performed phenome-wide association studies on variants in these 5

180 Large-scale phenome-wide association studies performed using densely

181 DeepPheWAS is an R package for phenome-wide association studies that creates clinically

182 Multivariable-adjusted phenome-wide association studies were performed.

183 n studies and gene-environment interactions, phenome-wide association studies, as well as copy number

184 and potential drug targets for COPD and, in phenome-wide association studies, autoimmune-related and

185 esults from genome-wide association studies, phenome-wide association studies, gene-based tests and g

186 med, including fine-mapping, colocalization, phenome-wide association studies, pathway, and tissue en

187 iations with clinical outcomes in subsequent phenome-wide association studies.

188 s, including schizophrenia and psychosis, in phenome-wide association studies.

189 We used a Mendelian randomization phenome-wide association study (MR-pheWAS) approach to s

190 lly, using our pQTL findings, we performed a phenome-wide association study (PheWAS) across 2 large m

191 lar, we demonstrate a novel extension to the phenome-wide association study (pheWAS) approach, using

192 to alcohol and nicotine use, we conducted a phenome-wide association study (PheWAS) in a large multi

193 Using a gene-based phenome-wide association study (PheWAS) in the EHR-linke

194 Finally, a phenome-wide association study (PheWAS) MR analysis eval

195 Here, we conducted a multi-step phenome-wide association study (PheWAS) of bipolar disor

196 Phenome-wide association study (PheWAS) of these instrum

197 profile copy number, we report results of a phenome-wide association study (PheWAS) of VNTRs and mul

198 We can interpret the phenome-wide association study (PheWAS) result for a sin

199 A human phenome-wide association study (PheWAS) showed that most

200 A phenome-wide association study (PheWAS) that was perform

201 ies (GWAS) in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to identify pote

202 A phenome-wide association study (PheWAS) together with a

203 A phenome-wide association study (PheWAS) was conducted to

204 A phenome-wide association study (PheWAS) was performed fo

205 rescribing and hospital incidence records, a phenome-wide association study (PheWAS) was performed to

206 A phenome-wide association study (PheWAS) was used to iden

207 Mendelian Randomization (MR) and phenome-wide association study (Phewas) were also explor

208 associations from an independent UK Biobank phenome-wide association study (PheWAS), providing a str

209 e applied to human subjects in the form of a phenome-wide association study (PheWAS).

210 A phenome-wide association study and Mendelian randomizati

211 The phenome-wide association study approach implicated sodiu

212 A phenome-wide association study assessing 106 clinical ph

213 We performed a phenome-wide association study between LPA genotypes and

214 A phenome-wide association study confirmed the link betwee

215 A phenome-wide association study confirmed these findings

216 A phenome-wide association study confirms that higher DBP

217 We performed a phenome-wide association study for a genetic risk score

218 A phenome-wide association study for rs12960630 showed a p

219 formed into interpretable phenotypes using a phenome-wide association study framework.

220 A phenome-wide association study identified 25 Internation

221 Lastly, a phenome-wide association study identified a link between

222 Phenome-wide association study identified atrial fibrill

223 ctors for MDD and loneliness by conducting a phenome-wide association study in 18,385 European-ancest

224 In a Phenome-Wide Association Study in 192,868 MVP participan

225 Initially, we conducted a phenome-wide association study in 3,401 nicotine-exposed

226 Here, we perform a multi-ancestry phenome-wide association study in 7789 children aged 9-1

227 netics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children s

228 A phenome-wide association study in the UK Biobank identif

229 A phenome-wide association study in the UK Biobank was per

230 A phenome-wide association study indicated multiple associ

231 Finally, we found in a phenome-wide association study involving 9438 unrelated

232 In a phenome-wide association study mapping ICD-10 diagnoses

233 A phenome-wide association study revealed an association b

234 Furthermore, a phenome-wide association study revealed that five of the

235 Pathway enrichment analyses and a phenome-wide association study search associated these C

236 DESIGN, SETTING, AND PARTICIPANTS: This phenome-wide association study used health data from par

237 A phenome-wide association study using polygenic risk scor

238 A phenome-wide association study using this index showed r

239 A phenome-wide association study was performed based on a

240 A phenome-wide association study was performed using the P

241 sion-quantitative trait locus analysis and a phenome-wide association study were performed on the lea

242 are also assessed for pleiotropy using the "phenome-wide association study" approach, testing each S

243 diagnostic criteria, and performed a PheWAS (phenome-wide association study).

244 In a phenome-wide association study, a 10 single-nucleotide p

245 We extended this analysis with a phenome-wide association study, in which we tested for c

246 In this Mendelian randomization (MR) phenome-wide association study, using two-sample MR meth

247 In the cardiometabolic phenome-wide association study, we found that a higher n

248 cant loci were characterized further through phenome-wide association study.

249 , which enable genome-wide association(3,4), phenome-wide association(5,6) and polygenic risk score(7

250 traits and 115 cardiovascular diseases using phenome-wide association.

251 in patterns of asymmetry changes show robust phenome-wide associations across 959 distinct variables

252 s from Mount Sinai Hospital (MSH) to compute phenome-wide associations between birth month and CVD.

253 It also documented additional phenome-wide associations that will serve as a reference

254 otyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing

255 he opportunity to systemically integrate the phenome-wide data available for genetic association anal

256 associated with 22 distinct diseases in the phenome-wide discovery stage, with the strongest signal

257 s as independent data sets, we found strong, phenome-wide disease associations shared by two or more

258 landscape of copy-number variation and their phenome-wide effects in a sample of 472,228 array-genoty

259 ndomization analyses were performed to infer phenome-wide effects of free testosterone on 461 outcome

260 his, we have investigated the results from a phenome-wide evaluation of schizophrenia genetic liabili

261 Finally, we undertook phenome-wide evaluations at associated loci to investiga

262 s), that is applicable for genome-wide scale phenome-wide G x E studies.

263 Our approach of characterizing the phenome-wide genomic landscape, developing population-sp

264 ommon condition, we designed and undertook a phenome-wide Mendelian randomisation (MR) study.

265 with almost 20,000 clinical phenotypes via a phenome-wide Mendelian randomisation study (MR-pheWAS).

266 Phenome-wide Mendelian randomization analysis in 4,439 p

267 A phenome-wide Mendelian randomization analysis of an enha

268 Phenome-wide Mendelian randomization showed weak causal

269 We additionally conducted a phenome-wide MR study for each of these 12 genes to asse

270 fect profiles across 367 traits evaluated in phenome-wide MR.

271 icularly, we apply associationSubgraphs to a phenome-wide multimorbidity association matrix generated

272 GWAS was developed to enhance exploration of phenome-wide pleiotropy at the genome-wide level through

273 Finally, we perform phenome-wide polygenic risk score (PRS) analyses on 67 c

274 Phenome-wide polygenic risk score analysis in an indepen

275 We examined phenome-wide profiles of associations for the entire dis

276 eb platform features construct downloads and phenome-wide PRS association study results (PRS-PheWAS)

277 ship between plasma lipids and diseases on a phenome-wide scale and can provide context for future pr

278 udy of disease phenotypic relationships on a phenome-wide scale is limited because large-scale machin

279 stematic study of disease relationships on a phenome-wide scale is limited due to the lack of large-s

280 can also facilitate replication studies on a phenome-wide scale.

281 ial risk markers for cancers by performing a phenome-wide scan (PheWAS).

282 Using a phenome-wide scan of psychiatric diagnoses, we found sig

283 A phenome-wide scan of rs9291211 in the UK Biobank (N > 36

284 Here we describe CoPheScan (Coloc adapted Phenome-wide Scan), a Bayesian approach that enables an

285 i-/multi-variable Mendelian randomization, a phenome-wide scan, genetic colocalization and within-sib

286 (3) to identify disease associations using a phenome-wide scan.

287 nfluences with PR interval and QRS duration. Phenome-wide scanning indicate associations with atrial

288 species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 5

289 ting, followed by polygenic risk scoring and phenome-wide screening, to identify genetic comorbiditie

290 , angina, and pre-infarction syndrome passed phenome-wide significance and their seasonal patterns ma

291 e ratio: 3'-hydroxycotinine/cotinine) on the phenome-wide significant (PWS) signals were then estimat

292 33 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 x 10(-11)) at 2,

293 king behaviors and identified multiple novel phenome-wide significant and suggestive findings related

294 After discovering 97 genes with exome-by-phenome-wide significant phenotype associations (P < 10(

295 schemia had consistent patterns but were not phenome-wide significant.

296 ancements as scientists begin to incorporate phenome-wide strategies in human genomic research to und

297 med statistical decomposition of matrices of phenome-wide summary statistics, and identified latent g

298 Here, we conducted a phenome-wide, two-sample Mendelian randomization (MR) an

299 nts of genetic associations across the human phenome will accelerate biomedical hypothesis generation

300 t that connections between transcriptome and phenome will require expression data from multiple tissu