ライフサイエンスコーパス: genetic heterogeneity

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

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

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

4 haracterized by high relapse rates and great genetic heterogeneity.

5 ment of resistance is commonly attributed to genetic heterogeneity.

6 is complicated by their extreme clinical and genetic heterogeneity.

7 o these disorders, underscoring a remarkable genetic heterogeneity.

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

9 neurodegenerative disorders with significant genetic heterogeneity.

10 hypotheses about the spatial distribution of genetic heterogeneity.

11 haracterized by photoreceptor cell death and genetic heterogeneity.

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

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

14 n neuropsychiatric disease despite extensive genetic heterogeneity.

15 been impeded by computational complexity and genetic heterogeneity.

16 inimal evidence for linkage due to suspected genetic heterogeneity.

17 seases characterized by a broad clinical and genetic heterogeneity.

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

19 ents with classic Milroy disease, suggesting genetic heterogeneity.

20 iple genomic regions consistent with reduced genetic heterogeneity.

21 cancer is complicated by tumor diversity and genetic heterogeneity.

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

23 ly unknown because of extensive clinical and genetic heterogeneity.

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

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

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

27 genetic approaches has been hindered by its genetic heterogeneity.

28 essive retinal dystrophy that manifests with genetic heterogeneity.

29 elopmental condition characterized by marked genetic heterogeneity.

30 nosis, potentially stemming from substantial genetic heterogeneity.

31 neage differentiation and not only by clonal genetic heterogeneity.

32 rently identified BBS genes suggests further genetic heterogeneity.

33 milies), suggesting an even greater level of genetic heterogeneity.

34 in four additional UFS patients, indicating genetic heterogeneity.

35 tumours have a large degree of cellular and genetic heterogeneity.

36 ochastic partitioning contributes to the non-genetic heterogeneity.

37 has been proposed to have both clinical and genetic heterogeneity.

38 ly in patients with significantly higher HCV genetic heterogeneity.

39 emerging for PCD and demonstrates extensive genetic heterogeneity.

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

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

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

43 ar dystrophies display a wide phenotypic and genetic heterogeneity.

44 ion of susceptibility alleles due to reduced genetic heterogeneity.

45 an populations because of those populations' genetic heterogeneity.

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

47 challenging because of extreme clinical and genetic heterogeneity.

48 on and quality control fall short addressing genetic heterogeneity.

49 I deficiency is associated with clinical and genetic heterogeneity.

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

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

52 th high heritability and both phenotypic and genetic heterogeneity.

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

54 elopmental condition characterized by marked genetic heterogeneity.

55 presentation, and underlying biological and genetic heterogeneity.

56 and is characterized by marked clinical and genetic heterogeneity.

57 Although K. kingae exhibits noteworthy genetic heterogeneity, a limited number of distinct clon

58 African Americans, consistent with pervasive genetic heterogeneity across ancestral groups, and may e

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

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

61 UMs with genetic heterogeneity across multiple sample sites showe

62 To reduce genetic heterogeneity, all participants were of European

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

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

65 The genetic heterogeneity among A. actinomycetemcomitans str

66 Although genetic heterogeneity among CHO cell lines has been well

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

68 parametric linkage analyses and allowing for genetic heterogeneity among families, we found two loci

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

70 We find evidence that there is genetic heterogeneity among metastasis-initiating cells,

71 Analysis of genetic heterogeneity among multiple HCAs, from differen

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

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

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

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

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

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

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

79 As genetic heterogeneity and complexity may influence clini

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

81 Genetic heterogeneity and environmental factors pose sig

82 s (CNVs) represent a significant part of our genetic heterogeneity and have also been associated with

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

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

85 Therefore, they may contribute to both genetic heterogeneity and phenotypic variation of psychi

86 Genetic heterogeneity and signaling alterations diminish

87 cess, which has generally been attributed to genetic heterogeneity and small gene effects.

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

89 nts need to be studied to determine possible genetic heterogeneity and to establish whether there are

90 These data suggest that cell line genetic heterogeneity and/or multiple determinants modul

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

92 the global clonal distribution, concomitant genetic heterogeneity, and increased NAL resistance of S

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

94 f difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental co

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

96 Clinical and genetic heterogeneity associated with retinal diseases m

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

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

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

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

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 with culturing of the organism and a lack of genetic heterogeneity between strains.

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

108 n 2 hospitals, there was a 7.7% reduction in genetic heterogeneity between the hospitals' MRSA popula

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

110 Our analyses showed a high degree of genetic heterogeneity both within and between distinct t

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

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

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

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

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

116 However, due to significant genetic heterogeneity, candidate gene approaches have ha

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

118 Genetic heterogeneity contributes to clinical outcome an

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

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 These results indicate that substantial genetic heterogeneity exists in a cancer type dominated

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

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

125 CDH3, as well as substantial phenotypic and genetic heterogeneity for CD itself.

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

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

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

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

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

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 of FBHM result from mutations of NLRP7, but genetic heterogeneity has been demonstrated.

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

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 derstanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and

138 The genetic heterogeneity highlights the complexity of the g

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

140 Genetic heterogeneity in a mixed sample of tumor and nor

141 gene, displaying an unprecedented degree of genetic heterogeneity in a pneumococcal serotype.

142 The findings confirm the presence of genetic heterogeneity in ADHD and illustrate how genetic

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

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

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

146 There is genetic heterogeneity in CRC associations in Americans o

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

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

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

150 Because of prominent genetic heterogeneity in familial dilated cardiomyopathy

151 These studies reveal striking clinical and genetic heterogeneity in high-risk ALL and point to nove

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

153 Evolutionary forces generate vast genetic heterogeneity in human illness by introducing ma

154 lonal, there is now evidence of intra-tumour genetic heterogeneity in most cancers.

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

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

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

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

159 Demonstrate intratumoral genetic heterogeneity in rectal cancer.

160 and feasible approach through which to study genetic heterogeneity in retinal diseases.

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

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

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

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

165 Previous studies have shown that host genetic heterogeneity in the response to infectious chal

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

167 rther study, particularly given the apparent genetic heterogeneity in this disease.

168 f typical PD and suggest population-specific genetic heterogeneity in this disease.

169 her consanguineous families, consistent with genetic heterogeneity in this disorder.

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

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

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

173 These findings show that genetic heterogeneity in Williams 82 primarily originate

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

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

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

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

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

179 Genetic heterogeneity is a characteristic of schizophren

180 Intratumor genetic heterogeneity is a key mechanism underlying tumo

181 Genetic heterogeneity is an important feature of many bi

182 In tumours, where genetic heterogeneity is common, very important informat

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

184 Significant genetic heterogeneity is established for this familial c

185 The genetic heterogeneity is highly unlikely to be a result

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

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

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

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

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

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

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

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

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

195 t variation, and the impact of intracultivar genetic heterogeneity may be significant.

196 Their genetic heterogeneity may correspond to that found among

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

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

199 Despite genetic heterogeneity, myelodysplastic syndromes (MDSs)

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

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

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

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

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

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

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

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

208 The genetic heterogeneity of cancer influences the trajector

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

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

211 ics that accommodate increasing knowledge of genetic heterogeneity of diagnostic targets.

212 this two-stage approach emphasizes the high genetic heterogeneity of epilepsy disorders, suggests th

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

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

215 The genetic heterogeneity of HIV-1 poses a major obstacle to

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 Genetic heterogeneity of lung function might be extensiv

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

222 activity analyses were used to describe the genetic heterogeneity of melanomas.

223 Thus, genetic heterogeneity of metastases reflects that within

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 The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL

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

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

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

231 d at low levels in all specimens, reflecting genetic heterogeneity of prostate cancer.

232 The complexity and genetic heterogeneity of psychiatric disorders have chal

233 Genetic heterogeneity of rare mutations with deleterious

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

235 Genetic heterogeneity of SCID frequently delays the diag

236 Identifying the genetic heterogeneity of small deletions remains a major

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

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

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

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

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

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

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

244 to a growing body of evidence that points to genetic heterogeneity of the EGFR pathway in NSCLC among

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 nsit, and metastatic melanomas underline the genetic heterogeneity of this disease.

251 The extensive genetic heterogeneity of this disorder requires a genome

252 ication of 21 novel mutations highlights the genetic heterogeneity of this disorder.

253 loci are likely to contribute to the complex genetic heterogeneity of this group of disorders.

254 Previous studies demonstrate the genetic heterogeneity of VUR.

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

256 The model predicts a strong impact of genetic heterogeneity on the disease risk and its progre

257 criteria allowed for the presence of modest genetic heterogeneity or missing data but also identifie

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

259 This intratumor genetic heterogeneity poses a substantial challenge for

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

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

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

263 us for pVUR and suggests that in addition to genetic heterogeneity, recessive contributions should be

264 Intratumor genetic heterogeneity reflects the evolutionary history

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

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

267 Murine EfRMS display genetic heterogeneity similar to their human counterpart

268 44+/CD24- cell state can promote intra-tumor genetic heterogeneity, spur tumor evolution and increase

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

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

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

272 r-skinned populations; yet, because of their genetic heterogeneity, the key molecular events in cSCC

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

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

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

276 Intratumor genetic heterogeneity underlies the ability of tumors to

277 To understand the genetic heterogeneity underlying developmental delay, we

278 Despite considerable genetic heterogeneity underlying neurodevelopmental dise

279 These results provide additional evidence of genetic heterogeneity underlying UL of various histologi

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

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

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

283 Accounting for the genetic heterogeneity using the ordered subset analysis

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

293 The genetic heterogeneity within ASD is striking, with even

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

295 The role of genetic heterogeneity within neoplasms is increasingly r

296 To resolve the genetic heterogeneity within pediatric high-risk B-precu

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

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

299 We find genetic heterogeneity within the NOD2 locus and also sho

300 By characterizing this genetic heterogeneity within tumors, advances have been