ライフサイエンスコーパス: genetic heterogeneity

1 c encephalopathies (EEs), highlighting their genetic heterogeneity.

2 aled that these disorders are also marked by genetic heterogeneity.

3 y drug resistance that can result from tumor genetic heterogeneity.

4 ar dystrophies display a wide phenotypic and genetic heterogeneity.

5 ion of susceptibility alleles due to reduced genetic heterogeneity.

6 an populations because of those populations' genetic heterogeneity.

7 (ID) is a common condition with considerable genetic heterogeneity.

8 challenging because of extreme clinical and genetic heterogeneity.

9 on and quality control fall short addressing genetic heterogeneity.

10 I deficiency is associated with clinical and genetic heterogeneity.

11 licability in basic science as a tool to map genetic heterogeneity.

12 number changes, polyclonality and/or spatial genetic heterogeneity.

13 th high heritability and both phenotypic and genetic heterogeneity.

14 (NSHL) is characterized by a high degree of genetic heterogeneity.

15 elopmental condition characterized by marked genetic heterogeneity.

16 presentation, and underlying biological and genetic heterogeneity.

17 and is characterized by marked clinical and genetic heterogeneity.

18 h, predominantly as a result of clinical and genetic heterogeneity.

19 ected (11.3% of families), suggested further genetic heterogeneity.

20 tion accumulation that leads to intra-tissue genetic heterogeneity.

21 s (ASDs) are characterized by phenotypic and genetic heterogeneity.

22 haracterized by high relapse rates and great genetic heterogeneity.

23 ment of resistance is commonly attributed to genetic heterogeneity.

24 is complicated by their extreme clinical and genetic heterogeneity.

25 o these disorders, underscoring a remarkable genetic heterogeneity.

26 i-faceted collection of values that captures genetic heterogeneity.

27 neurodegenerative disorders with significant genetic heterogeneity.

28 hypotheses about the spatial distribution of genetic heterogeneity.

29 haracterized by photoreceptor cell death and genetic heterogeneity.

30 ever, findings are inconsistent due to human genetic heterogeneity.

31 ng of the palms and soles, with clinical and genetic heterogeneity.

32 n neuropsychiatric disease despite extensive genetic heterogeneity.

33 been impeded by computational complexity and genetic heterogeneity.

34 inimal evidence for linkage due to suspected genetic heterogeneity.

35 seases characterized by a broad clinical and genetic heterogeneity.

36 recognized and characterized by clinical and genetic heterogeneity.

37 ents with classic Milroy disease, suggesting genetic heterogeneity.

38 iple genomic regions consistent with reduced genetic heterogeneity.

39 cancer is complicated by tumor diversity and genetic heterogeneity.

40 ly unknown because of extensive clinical and genetic heterogeneity.

41 ng loss is characterized by a high degree of genetic heterogeneity.

42 dial prefrontal (mPFC) circuitry and related genetic heterogeneity.

43 exposure, another genotype or any source of genetic heterogeneity.

44 ) are characterized by marked phenotypic and genetic heterogeneity.

45 le of 1,211 genes tested, suggesting extreme genetic heterogeneity.

46 SOL sample combined may represent underlying genetic heterogeneity.

47 detailed phenotype and expands the range of genetic heterogeneity.

48 cilium with widely recognized phenotypic and genetic heterogeneity.

49 effect sizes and limited power but also with genetic heterogeneity.

50 ence but its quantification is confounded by genetic heterogeneity.

51 hances disease-specific signal by minimizing genetic heterogeneity.

52 seases, and they exhibit wide phenotypic and genetic heterogeneity.

53 e 2 form a continuous clinical spectrum with genetic heterogeneity.

54 e in each CLL sample despite the presence of genetic heterogeneity.

55 nosis, potentially stemming from substantial genetic heterogeneity.

56 Genetic heterogeneity [3] and a historical lack of appro

57 ve for gene prioritization in the context of genetic heterogeneity across families and prioritized to

58 rts the hypothesis of the presence of sexual genetic heterogeneity across high-level phenotypes.

59 s gambiae complex, An. funestus shows marked genetic heterogeneity across its range.

60 To reduce genetic heterogeneity, all participants were of European

61 iliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which has been iden

62 ation (CGH), differences were traced back to genetic heterogeneity already in the cells from the orig

63 The genetic heterogeneity among A. actinomycetemcomitans str

64 Although genetic heterogeneity among CHO cell lines has been well

65 joint-family analysis, implying substantial genetic heterogeneity among families for complex traits

66 ve genetic parameter estimates stemming from genetic heterogeneity among individuals with unknown par

67 Analysis of genetic heterogeneity among multiple HCAs, from differen

68 Here, we show that GxS interactions and genetic heterogeneity among sexes are small but common f

69 nical conditions, suggesting high degrees of genetic heterogeneity among stains.

70 framework to assess and to test formally for genetic heterogeneity among study subjects.

71 traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variabili

72 (ecDNA) amplification promotes intratumoral genetic heterogeneity and accelerated tumor evolution(1-

73 hey influence microbial population dynamics, genetic heterogeneity and biogeochemical cycles in marin

74 There is incomplete understanding of genetic heterogeneity and clonal evolution during cancer

75 equencing promises a high-resolution view of genetic heterogeneity and clonal evolution in cancer.

76 roducibility, and power to reveal underlying genetic heterogeneity and clonal phylogeny.

77 As genetic heterogeneity and complexity may influence clini

78 We illustrate a likely manifestation of genetic heterogeneity and demonstrate how it may affect

79 Genetic heterogeneity and environmental factors pose sig

80 isease progression associates with increased genetic heterogeneity and gain of RAS/RTK pathway mutati

81 ancer (MIUC) is characterized by substantial genetic heterogeneity and high mutational frequency.

82 mponent phenotypes, such as RRBs, can reduce genetic heterogeneity and improve statistical power.

83 Genetic heterogeneity and linkage disequilibrium in the

84 African Americans had greater intratumor genetic heterogeneity and more basal gene expression tum

85 idy, can promote tumorigenesis by increasing genetic heterogeneity and promoting tumour evolution.

86 Genetic heterogeneity and signaling alterations diminish

87 ical expertise, the same factors, along with genetic heterogeneity and the relative absence of ingrai

88 llenging to study due to small sample sizes, genetic heterogeneity and uncertainty about relevant non

89 ders disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to deter

90 urodevelopmental disorder exhibiting extreme genetic heterogeneity, and more than 500 genes have been

91 Different patterns of inheritance and genetic heterogeneity are known in this syndrome.

92 The enormous genetic heterogeneity associated with ASD emphasizes the

93 ur study provides a framework to disentangle genetic heterogeneity associated with autism and points

94 This report serves to expand the genetic heterogeneity associated with Leigh syndrome and

95 Clinical and genetic heterogeneity associated with retinal diseases m

96 erized by clinical variability and extensive genetic heterogeneity, associated with different cilia u

97 at ductal carcinomas in situ show intratumor genetic heterogeneity at diagnosis and that these lesion

98 y developed a general measure of intra-tumor genetic heterogeneity based on whole-exome sequencing (W

99 ny solid cancers have demonstrated extensive genetic heterogeneity between as well as within individu

100 We identify genetic heterogeneity between cortical measures and brai

101 Nevertheless, we observe genetic heterogeneity between divergent populations at s

102 LP) markers as a means to assess small-scale genetic heterogeneity between geographic locations and a

103 gainst inflated false-discovery rates due to genetic heterogeneity between populations.

104 techniques have reported various degrees of genetic heterogeneity between primary tumours and their

105 In contrast, we find evidence of genetic heterogeneity between sexes for waist-hip ratio

106 dentify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC.

107 We find evidence of genetic heterogeneity between the sub-phenotypes of NSOF

108 erved in PCOS is suggestive of an underlying genetic heterogeneity, but a recent meta-analysis of Eur

109 Genetic mapping studies suggest high genetic heterogeneity, but no IS disease-causing gene ha

110 ypic plasticity in melanoma, a source of non-genetic heterogeneity, but the molecular framework is po

111 Human tumors show a high level of genetic heterogeneity, but the processes that influence

112 study has demonstrated the value of reducing genetic heterogeneity by clinical stratification implica

113 recently discovered disease genes exhibiting genetic heterogeneity, by combining clinical and populat

114 g in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicis

115 Genetic heterogeneity combined with the activity of deve

116 lopmental disorders with high phenotypic and genetic heterogeneity, complicating the discovery of cau

117 Genetic heterogeneity contributes to clinical outcome an

118 most common familial heart disease with vast genetic heterogeneity, demonstrated over the past 20 yea

119 ht their key features as they are related to genetic heterogeneity, dosage effect, unaffected carrier

120 Despite remarkable genetic heterogeneity, evidence is emerging for convergi

121 ing) cases and controls revealed significant genetic heterogeneity exceeding 20% observed for 6 SNPs

122 Our study emphasizes that substantial genetic heterogeneity exists in ASD, necessitating the u

123 The lack of evidence for substantial genetic heterogeneity for body size is consistent with e

124 proach to the quantification of intratumoral genetic heterogeneity for clinical specimens.

125 The findings have revealed extensive genetic heterogeneity for ID, as well as examples of a c

126 This has led to concerns about genetic heterogeneity for this condition but also sugges

127 blood isolates mostly mirrored pre-existing genetic heterogeneity found in the probiotic product.

128 n loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic diseas

129 table cardiovascular conditions display vast genetic heterogeneity, genetic overlap between phenotype

130 Intratumoral genetic heterogeneity, germline mutations, and therapeut

131 Contrary to the view that non-allelic genetic heterogeneity hampers gene discovery, this study

132 Intra-tumoral genetic heterogeneity has been characterized across canc

133 enic changes in EVC or EVC2, however further genetic heterogeneity has been suggested.

134 (pncA), responsible for drug activation, but genetic heterogeneity has hindered development of a mole

135 But the extent of genetic heterogeneity has not been described in detail n

136 ism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene di

137 The genetic heterogeneity highlights the complexity of the g

138 Likely reasons include genetic heterogeneity (i.e., multiple causal genetic var

139 Genetic heterogeneity in a mixed sample of tumor and nor

140 anding the generation and maintenance of non-genetic heterogeneity in a population of cancer cells, a

141 Here, we review the different forms of genetic heterogeneity in cancer and re-analyse the exten

142 A major cause of genetic heterogeneity in cancer is genomic instability.

143 However, the extraordinary intratumor genetic heterogeneity in cancers revealed by deep sequen

144 sion, our data suggest the existence of high genetic heterogeneity in CG and provide evidence for the

145 ngle cells will enable the de-convolution of genetic heterogeneity in diverse cell populations.

146 These data demonstrate extensive genetic heterogeneity in endometrial cancers and relativ

147 In order to determine the role of genetic heterogeneity in environmental fitness we presen

148 e field by revealing new evidence of a clear genetic heterogeneity in how sleep consolidation contrib

149 rted contribute to the origin of intra-tumor genetic heterogeneity in neuroblastoma.Chromosomal abnor

150 be, in part, because of greater clinical and genetic heterogeneity in PAD.

151 The detection and quantification of genetic heterogeneity in populations of cells is fundame

152 ble mechanism for self-renewal by preserving genetic heterogeneity in quiescent stem cells, and also

153 Demonstrate intratumoral genetic heterogeneity in rectal cancer.

154 fter multiple-testing correction, suggesting genetic heterogeneity in some families carrying suscepti

155 We found staggering genetic heterogeneity in the dataset, identifying a tota

156 Here, we identify non-genetic heterogeneity in the fidelity and timing of dama

157 Tumors harbor extensive genetic heterogeneity in the form of distinct clone geno

158 equencing, we identified a high reservoir of genetic heterogeneity in the form of several driver gene

159 ariation in protein abundances thus leads to genetic heterogeneity in the population.

160 European settlement and support substantial genetic heterogeneity in the United States beyond that u

161 d recent studies have highlighted remarkable genetic heterogeneity in this subset of AML.

162 he presence of multiple independent SNPs and genetic heterogeneity in trait-associated loci.

163 Although the involvement of intra-tumor genetic heterogeneity in tumor progression, treatment re

164 sing alternative for explaining the observed genetic heterogeneity in tumor samples.

165 ation events, propagation of aneuploidy, and genetic heterogeneity in xenograft models likely through

166 ed numerous samples with marked intratumoral genetic heterogeneity, including branching evolution acr

167 ble to deal with confounding factors such as genetic heterogeneity, incomplete penetrance, individual

168 y) set of drugs changes as the complexity of genetic heterogeneity increases.

169 It is unclear whether this genetic heterogeneity indicates an equal heterogeneity o

170 negative tumor prevalence but not intratumor genetic heterogeneity influenced the magnitude and signi

171 Genetic heterogeneity is an important feature of many bi

172 A comprehensive characterization of tumor genetic heterogeneity is critical for understanding how

173 Significant genetic heterogeneity is established for this familial c

174 The genetic heterogeneity is highly unlikely to be a result

175 Knowledge of this genetic heterogeneity is important for both analysis of

176 ures of cells in which information regarding genetic heterogeneity is lost.

177 (microcephalic primordial dwarfism), but the genetic heterogeneity is probably more extensive.

178 t resistance, and metastasis is established, genetic heterogeneity is seldom examined in clinical tri

179 Intra-tumour genetic heterogeneity is the result of ongoing evolution

180 overned by variations in blood flow, whereas genetic heterogeneity is typically ascribed to random mu

181 To determine genetic heterogeneity, it was compared with the genomes

182 Intra-tumour genetic heterogeneity (ITH) fosters drug resistance and

183 omplexity, increasing evidence of intratumor genetic heterogeneity (ITH) is emerging, both within ind

184 postzygotic DNA mutations results in tissue genetic heterogeneity known as somatic mosaicism.

185 n, contrasting with a rampant within-patient genetic heterogeneity mainly targeting multiple phase-va

186 Due to inter-tumor genetic heterogeneity many driver mutations within a gen

187 lling of clonal dynamics indicates that high genetic heterogeneity may be a feature of those mild dys

188 ents, changes in C. jejuni morphology due to genetic heterogeneity may promote C. jejuni survival.

189 ting the activity of targeted agents, tumour genetic heterogeneity may provide a new therapeutic oppo

190 Tumor genetic heterogeneity may underlie poor clinical outcome

191 In spite of this genetic heterogeneity, MMs share a characteristic malign

192 Despite genetic heterogeneity, myelodysplastic syndromes (MDSs)

193 r cell survival under stress and fosters non-genetic heterogeneity (NGH).

194 a part of clinical work-up, and based on the genetic heterogeneity, numerous new names are being coin

195 These results extend the genetic heterogeneity observed in HX and indicate that v

196 the tissue-specific levels of aneuploidy and genetic heterogeneity observed in primary tumors.

197 ndings explain the clinical, pathologic, and genetic heterogeneity observed in some multi-incident fa

198 kely in part due to the extreme cellular and genetic heterogeneity observed in these tumors.

199 This explains the source of genetic heterogeneity observed in tumor sequencing data.

200 The clinical and genetic heterogeneities of NMDs make disease diagnosis c

201 Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elu

202 Despite the clinical and genetic heterogeneity of autism, bulk gene expression st

203 tically unresolved (GUR), suggesting further genetic heterogeneity of both disorders.

204 ly by taking into account the phenotypic and genetic heterogeneity of BP features.

205 irew at al. provides an in-depth analysis of genetic heterogeneity of breast tumor xenografts and sho

206 ms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy

207 f sub-clonal events; the pervasive nature of genetic heterogeneity of chromosomal amplifications; and

208 However, dynamic non-genetic heterogeneity of clonal cell populations continu

209 dissecting, in its many forms, intra-tumoral genetic heterogeneity of CNAs, the magnitude with which

210 t disorders and demonstrate the clinical and genetic heterogeneity of developmental brain disorders.

211 the scientific field's understanding of the genetic heterogeneity of DLBCL deepens, a precision medi

212 chemoradiation-is limited in part due to the genetic heterogeneity of glioblastoma.

213 ent of effective treatment regimens, but the genetic heterogeneity of HCV has limited the efficacy of

214 Genetic heterogeneity of hearing loss was striking with

215 We investigated the association between the genetic heterogeneity of HEV quasispecies in ORF1 and th

216 Because of the genetic heterogeneity of HTG, a family study design is o

217 Given the vast genetic heterogeneity of human cancers and difficulty to

218 Mouse tumors that mimic the genetic heterogeneity of human cancers can aid our under

219 Our data highlight the genetic heterogeneity of ICF syndrome; however, they pro

220 allelic associations that shed light on the genetic heterogeneity of inflammatory arthritides and on

221 Genetic heterogeneity of lung function might be extensiv

222 s required, but this study suggests that the genetic heterogeneity of MDD is not attributable to geno

223 ed axonopathies display an extreme degree of genetic heterogeneity of Mendelian high-penetrance genes

224 The clinical and genetic heterogeneity of mitochondrial myopathies presen

225 Genetic heterogeneity of Mycobacterium tuberculosis (MTB

226 These studies expand the genetic heterogeneity of NM and implicate a critical rol

227 l/elife/12-05-2020/backup/r analyses reveal: genetic heterogeneity of non-tumor cells (i.e. stroma) w

228 novel approaches are needed to overcome the genetic heterogeneity of pancreatic cancer predispositio

229 One likely contributing factor is the genetic heterogeneity of patients that might modify thei

230 oordinate searches of the gene map, views of genetic heterogeneity of phenotypes in Phenotypic Series

231 ries have been created to facilitate viewing genetic heterogeneity of phenotypes.

232 to become liver CSCs and the phenotypic and genetic heterogeneity of primary liver cancer.

233 The complexity and genetic heterogeneity of psychiatric disorders have chal

234 Genetic heterogeneity of rare mutations with deleterious

235 Our theory quantifies the genetic heterogeneity of resistance that exists before t

236 Genetic heterogeneity of SCID frequently delays the diag

237 Identifying the genetic heterogeneity of small deletions remains a major

238 sory neuropathy DNMT1 gene, highlighting the genetic heterogeneity of spastic paraplegia.

239 election on regional populations may lead to genetic heterogeneity of susceptibility to complex disea

240 ber of models that capture greater molecular/genetic heterogeneity of the cancer type.

241 Examination of intra-host genetic heterogeneity of the colonizing S. aureus popula

242 ode of inheritance, clinical penetrance, and genetic heterogeneity of the condition.

243 g to age structures of the pedigrees and the genetic heterogeneity of the disease, this strategy allo

244 We consider evidence for the genetic heterogeneity of the disorder and the likelihood

245 was determined for all families, confirming genetic heterogeneity of the population and indicating t

246 Our results demonstrate broad genetic heterogeneity of the RVA strains and suggest the

247 Despite significant progress, the high genetic heterogeneity of these disorders often requires

248 incidence over the past 4 decades yet marked genetic heterogeneity of this disease has precluded adva

249 The genetic heterogeneity of this disease poses significant

250 The extensive genetic heterogeneity of this disorder requires a genome

251 However, our knowledge of intra-tumoral genetic heterogeneity of this important class of somatic

252 tions of viral phenotypic, morphological and genetic heterogeneity on pathogenesis and medicine.

253 The impact of HPV-6 genetic heterogeneity on persistence and progression to

254 therapies has been alternatively ascribed to genetic heterogeneity or to epigenetic transitions that

255 g to clinical overlap between the dementias, genetic heterogeneity, pleiotropy and concurrent mutatio

256 sease genetic data, including phenotypic and genetic heterogeneity, polygenic forms of inheritance an

257 This intratumor genetic heterogeneity poses a substantial challenge for

258 However, the clinical variability and genetic heterogeneity prevents the identification of the

259 ial-like cells, in parallel with intra-tumor genetic heterogeneity profiling from bulk DNA, is a powe

260 ontributes to the phenomenon of intratumoral genetic heterogeneity, provides the genetic diversity re

261 tubal intraepithelial carcinoma (STIC), with genetic heterogeneity providing a platform for HGSC evol

262 Intratumor genetic heterogeneity reflects the evolutionary history

263 disease, and their considerable clinical and genetic heterogeneity render the development of these st

264 study was to determine whether intra-tumour genetic heterogeneity resulting from clonal evolution an

265 typically united by PTEN is reflected by the genetic heterogeneity revealed through gene discovery.

266 Murine EfRMS display genetic heterogeneity similar to their human counterpart

267 44+/CD24- cell state can promote intra-tumor genetic heterogeneity, spur tumor evolution and increase

268 ses of incomplete penetrance and evidence of genetic heterogeneity support a model of PAH as a Mendel

269 cant challenge because of the structural and genetic heterogeneity that occurs during the progression

270 Thus, our study reveals the tremendous genetic heterogeneity that underlies lymphomas and highl

271 Interestingly, we found genetic heterogeneity (that is, different sets of loci a

272 including modulating effects of clinical and genetic heterogeneity, the authors studied a large multi

273 ical, prognostic, neuropathological, and now genetic heterogeneity, the concept of ALS as one disease

274 es influencing complex traits is hampered by genetic heterogeneity, the modest effect size of many al

275 itations of the power of this approach under genetic heterogeneity through simulation.

276 ic population-level mechanism that relies on genetic heterogeneity to rapidly tune the expression of

277 Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-

278 Intratumor genetic heterogeneity underlies the ability of tumors to

279 Despite considerable genetic heterogeneity underlying neurodevelopmental dise

280 remains unknown, likely pointing to complex genetic heterogeneity underlying this phenotype.

281 increased tumorigenicity and associated with genetic heterogeneity, undermining its use as a marker i

282 riants (SNVs) is important for understanding genetic heterogeneity using next-generation sequencing (

283 r of this approach under different levels of genetic heterogeneity using simulations.

284 Significant genetic heterogeneity was detected between the two adult

285 Intratumor genetic heterogeneity was greater in African American th

286 Little genetic heterogeneity was observed between primary and m

287 Using datasets reproducing tumor genetic heterogeneity, we demonstrate that Mutascope has

288 leukemia (AML) is characterized by a marked genetic heterogeneity, which complicates the development

289 man cancers display substantial intratumoral genetic heterogeneity, which facilitates tumor survival

290 ggressive bone tumours with a high degree of genetic heterogeneity, which has historically complicate

291 Intratumor genetic heterogeneity, which occurs in addition to inter

292 ndrome is complicated on account of the vast genetic heterogeneity with >75 candidate disease-associa

293 The disease displays great genetic heterogeneity with some forms allelic to Marfan

294 showed varied binding strengths, and marked genetic heterogeneity, with high mutation frequencies.

295 The genetic heterogeneity within ASD is striking, with even

296 ent studies have pointed to large stochastic genetic heterogeneity within cancer lesions, where no pa

297 neity in cancer and re-analyse the extent of genetic heterogeneity within seven types of untreated ep

298 Together, our findings show the existence of genetic heterogeneity within the basal-like breast cance

299 in cell compartments but also because of the genetic heterogeneity within the mitochondrial pool-netw

300 sequencing cancer genomes can be thwarted by genetic heterogeneity within tumors.