ライフサイエンスコーパス: unrelated individual

1 A>G], p.[Arg263( *)];[Asp365Gly]) in a third unrelated individual.

2 thy co-twins and when compared with healthy, unrelated individuals.

3 ults across the nine samples for over 18 000 unrelated individuals.

4 CRs that are frequently observed in multiple unrelated individuals.

5 milies of four, one parent-child duo and two unrelated individuals.

6 vailable, not only consisting of homogeneous unrelated individuals.

7 nd using a method based directly on DNA from unrelated individuals.

8 ng genome-wide genotypes in large samples of unrelated individuals.

9 sphorylation motifs were identified in eight unrelated individuals.

10 ES) and whole-genome sequencing (WGS) in six unrelated individuals.

11 y cheetahs ablate skin graft rejection among unrelated individuals.

12 s to detect IBD segments between purportedly unrelated individuals.

13 ich combines information across families and unrelated individuals.

14 ing and analyze the variant data of multiple unrelated individuals.

15 exual competition, with little bonding among unrelated individuals.

16 genome is typically variable between any two unrelated individuals.

17 aplotype phasing in low-coverage NGS data of unrelated individuals.

18 e recovered from family members but not from unrelated individuals.

19 co)variance to be estimated from SNP data on unrelated individuals.

20 , depend on kinship; many are formed between unrelated individuals.

21 m an external reference panel of fully typed unrelated individuals.

22 L) studies, typically in single tissues from unrelated individuals.

23 , we cloned 576 new HIV antibodies from four unrelated individuals.

24 approach is the population-based design with unrelated individuals.

25 e gut and other body habitats of related and unrelated individuals.

26 e polymorphisms in DEFB1 in DNA samples from unrelated individuals.

27 , genotypic and phenotypic data for numerous unrelated individuals.

28 sons compared with mothers and daughters, or unrelated individuals.

29 n their faecal bacterial communities than do unrelated individuals.

30 , 77.8% of which were identified in multiple unrelated individuals.

31 E, for model-based estimation of ancestry in unrelated individuals.

32 rapidly extracts a fixed number of maximally unrelated individuals.

33 , it is often useful to identify a subset of unrelated individuals.

34 eterozygous loci in monozygotic twins and in unrelated individuals.

35 G x G and G x E interactions in a sample of unrelated individuals.

36 disjoint sets, each containing two or three unrelated individuals.

37 A-B, and HLA-DRB1 alleles on chromosome 6 in unrelated individuals.

38 common diseases and traits in populations of unrelated individuals.

39 e II error in genetic-association studies of unrelated individuals.

40 ary history of the haplotypes, in samples of unrelated individuals.

41 genome that contain genomic imbalances among unrelated individuals.

42 s reporting somewhat close relationships and unrelated individuals.

43 ls from families while the other consists of unrelated individuals.

44 lements common variant approaches and WGS in unrelated individuals.

45 To date, most MR studies have used data from unrelated individuals.

46 omatography in a sporadic SCAD cohort of 675 unrelated individuals.

47 variants for BP association in up to 491 584 unrelated individuals.

48 ncing of 18 153 genes in a population of 391 unrelated individuals.

49 essing was not more similar in twins than in unrelated individuals.

50 el facilitates accurate imputation of SVs in unrelated individuals.

51 dispersal and extensive social bonding among unrelated individuals [1].

52 of these variants were observed in multiple, unrelated individuals, 120 in the homozygous state.

53 ts and 12 different missense variants) in 38 unrelated individuals, 21 of whom were hypercalcemic.

54 ve germline variants affecting DLST in eight unrelated individuals (~7%); all except one were diagnos

55 ed to infer the local ancestries in a set of unrelated individuals, a few of them have been extended

56 e novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental d

57 We sequenced the exomes of three unrelated individuals affected by KPLBS and found de nov

58 Here, we identified seven unrelated individuals affected with an apparent dominant

59 The BPTF variants were found in unrelated individuals aged between 2.1 and 13 years, who

60 In 3,686 unrelated individuals aged between 45 and 98 years, brai

61 of 216 probands (age > or =95 years) and 309 unrelated individuals (ages 51 to 94) were genotyped for

62 between haplotype sharing across purportedly unrelated individuals and a population's demographic his

63 xperimental mix of association mapping using unrelated individuals and controlled crosses to identify

64 stigated germling fusion between genetically unrelated individuals and discovered that chemotropic in

65 x (BMI) in 172,000 sibling pairs and 150,832 unrelated individuals and explore the contribution of ge

66 , in which estimates from analyses combining unrelated individuals and families (most powerful but su

67 We sequenced the genomes of ten unrelated individuals and identified heterozygous stop c

68 We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causa

69 ata on arbitrary combinations of related and unrelated individuals and is computationally feasible fo

70 ich were originally developed for samples of unrelated individuals and later have been extended to fa

71 nting genetic relatedness between reportedly unrelated individuals and leveraging such regions to sho

72 xome sequencing (WES) on VVM tissue from six unrelated individuals and looked for somatic mutations a

73 The differences between unrelated individuals and married couples was driven ent

74 ching for genotype-phenotype correlations in unrelated individuals and often is more rapid and cost-e

75 ttings where sequence data are available for unrelated individuals and parent-offspring trios and sho

76 acy of genomic predictions in populations of unrelated individuals and provides a formal statistical

77 0 methylation differences between T cells of unrelated individuals and several thousand differences b

78 ging from studies that have a combination of unrelated individuals and small pedigrees to studies of

79 Exome sequencing of two unrelated individuals and subsequent Sanger sequencing o

80 ted peripheral blood RNA-seq data from 2,116 unrelated individuals and systematically identified cont

81 and their parents with a set of unaffected, unrelated individuals and their parents.

82 inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with va

83 mples, while sparse models predict better in unrelated individuals and when some effects have moderat

84 Both Mendelian randomization estimates using unrelated individuals and within family methods reproduc

85 s of genetic correlations, based on ~114,000 unrelated individuals and ~19,000 related individuals fr

86 H in 726 affected individuals (including 544 unrelated individuals) and 268 unrelated controls.

87 data from the Framingham Heart Study (1,626 unrelated individuals) and the Jackson Heart Study (2,04

88 ividuals) and the Jackson Heart Study (2,046 unrelated individuals), and we compare them to LD-based,

89 y have focused principally on inference from unrelated individuals, and comparisons between methods h

90 family are genetically more homogeneous than unrelated individuals, and family-based designs are ofte

91 known familial relationships in addition to unrelated individuals, and it is common for some individ

92 ncies of 0.5% or less, very large samples of unrelated individuals are necessary to unambiguously ass

93 d dscRNA-seq experiments in which cells from unrelated individuals are pooled and captured at higher

94 , we analyze fecal metagenomic data from 124 unrelated individuals, as well as six monozygotic twin p

95 Sequencing of exons 16-72 of LRP2 in 200 unrelated individuals at extremes of urinary TFF3 levels

96 regions of the mtDNA genome from related and unrelated individuals at unprecedented resolution.

97 ion at all SNPs (hSNP(2) and deltaSNP(2)) in unrelated individuals based on an orthogonal model where

98 e same nonsense mutation and a further three unrelated individuals bearing a second missense allele.

99 We report here on eight unrelated individuals born to non-consanguineous familie

100 additional mutations in three highly myopic unrelated individuals (c.341G>A, c.418G>A, and c.776C>T)

101 ates from Mendelian randomization studies of unrelated individuals can be biased due to uncontrolled

102 A second unrelated individual carrying mutations in COASY was ide

103 on, we have identified the breakpoints in 85 unrelated individuals carrying an NF1 intragenic CNV.

104 By whole-exome sequencing, we identified two unrelated individuals carrying compound heterozygous var

105 The genetic etiology for 191 unrelated individuals clinically suspected to have HHT w

106 because these estimates can be obtained from unrelated individuals collected in genome-wide associati

107 endent of the environment across a sample of unrelated individuals, conditional on covariates.

108 nbeard' discrimination, in which genetically unrelated individuals cooperate with one another based o

109 or genetic association studies in designs of unrelated individuals, current statistical methodology t

110 ies that can use various types of family and unrelated-individual data sampled from any population st

111 We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia o

112 We sequenced the exomes of five unrelated individuals diagnosed with GPP.

113 Any two unrelated individuals differ by about 10,000 single amin

114 tiple robust statistical methods, on (i) 367 unrelated individuals drawn from 18 mainland and 2 islan

115 he transcriptional responses elicited by two unrelated individual drugs are correlated.

116 Three unrelated individuals enrolled in the registry had a syn

117 that contingent cooperation may occur among unrelated individuals, even when there is a temporal del

118 y of input file formats, handles related and unrelated individuals, executes both single variant and

119 y available data for four brain regions from unrelated individuals, finding that 3-4% of CpG loci ass

120 possible to propose standardized subsets of unrelated individuals for use in future studies in which

121 ow in autosome-wide genotype data from 3,528 unrelated individuals from 163 global samples.

122 le-nucleotide polymorphism (SNP) loci in 443 unrelated individuals from 29 worldwide populations to e

123 We studied 938 unrelated individuals from 51 populations of the Human G

124 to a data set of 650K SNPs genotyped in 944 unrelated individuals from 52 populations and demonstrat

125 Here, we genotyped these two SNPs in 971 unrelated individuals from 52 unique populations worldwi

126 ified eight inactivating RAD51D mutations in unrelated individuals from 911 breast-ovarian cancer fam

127 r alleles in this population, we selected 64 unrelated individuals from a set of 394 individuals who

128 exome sequencing on lymphocyte DNA from four unrelated individuals from families with Gorlin syndrome

129 lysis were performed for these 34 loci in 80 unrelated individuals from four diverse human population

130 patterns of genetic variation in samples of unrelated individuals from natural populations.

131 We used a set of unrelated individuals from Nigeria to represent the Afri

132 lyze whole-genome sequencing data from 1,441 unrelated individuals from self-identified African Ameri

133 digree (Middle Eastern ancestry) and also in unrelated individuals from the general population (Europ

134 the urban center of Edinburgh, as well as 96 unrelated individuals from the general U.K. population.

135 Utilizing unrelated individuals from the Genomic Origins and Admix

136 n Genome Diversity Panel (HGDP) and from 270 unrelated individuals from the International HapMap Proj

137 The study population included 1780 unrelated individuals from the Offspring cohort (49% mal

138 In the current report, 109 unrelated individuals from the United Arab Emirates (UAE

139 on 21,991 SNPs (chromosome 3) observed in 88 unrelated individuals from Tuscany.

140 ciated with cardiovascular events in 357 882 unrelated individuals from UK Biobank.

141 nalyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysi

142 Five unrelated individuals had a 3-repeat VNTR(t,t) allele.

143 Similar haplotypes cloned from unrelated individuals had nearly identical sequence.

144 Nine of these ten unrelated individuals had the identical de novo c.1027G>

145 The two unrelated individuals had the same heterozygous missense

146 arkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo fr

147 374 kb deletion encompassing DYNC1I2, and an unrelated individual harbors the compound-heterozygous v

148 ty, h(2), from genome-wide SNPs genotyped in unrelated individuals has recently attracted interest an

149 In two unrelated individuals in a cohort with developmental del

150 We estimate h(2) from unrelated individuals in admixed populations by first es

151 n a representative population of 842 healthy unrelated individuals in four ethnic groups: 218 African

152 But do cooperative interactions between unrelated individuals in non-human animals really resemb

153 from a dataset of all CNVs detected in three unrelated individuals in previous array-based CNV discov

154 n trios, respectively, and 5.2% and 5.9% for unrelated individuals in simulated data and the HapMap C

155 me-wide single-nucleotide variants from 2426 unrelated individuals in the 1000 Genomes Project, and i

156 We identified 113 (10.7%) among 1,054 unrelated individuals in the cohort who carried heterozy

157 in families and between spouses than between unrelated individuals, indicating that transmission requ

158 ates and lower rates among epidemiologically unrelated individuals infected with HIV subtype C.

159 nary rate of genetic exchange between highly unrelated individuals is unprecedented in any taxa.

160 To identify LFV, a study of unrelated individuals may no longer be as efficient as a

161 mparably to effectors from 14 HLA-mismatched unrelated individuals (mean inhibition 42% +/- 9% vs 39.

162 idate gene was assessed in lung samples from unrelated individuals (n=80) with and without emphysema

163 ic influence using DNA alone from samples of unrelated individuals, not relying on the assumptions of

164 the case-specific variants were recurrent in unrelated individuals, occurring in 10% of cases studied

165 was developed and used to study DNA from 27 unrelated individuals of diverse ethnic and racial backg

166 eritability, h(2)g ) using data from 120 286 unrelated individuals of European ancestry (2987 with AF

167 examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry, using SNP an

168 ritable and expressed in whole blood in 1748 unrelated individuals of European ancestry.

169 G>A (p.Gly154Arg) mutation was found in four unrelated individuals of Hispanic/Latino origin, and a h

170 We studied 955 unrelated individuals of local ancestry from nine Scotti

171 and phenotype data from a population of 268 unrelated individuals of P. deltoides The discovery of l

172 fect size of BMI on diabetes odds in 287,394 unrelated individuals of self-reported white British anc

173 en and women were investigated among 317 509 unrelated individuals of the European ancestry.

174 ic cell population frequencies can be large, unrelated individuals of younger age have more homogeneo

175 , we regress trait similarities for pairs of unrelated individuals on their genetic similarities and

176 d algorithm that can efficiently accommodate unrelated individuals, parent-child trios, and arbitrari

177 Four unrelated individuals presented with congenital nystagmu

178 Two unrelated individuals presented with severe hypotonia, b

179 We report seven unrelated individuals presenting with a multiple congeni

180 e heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopment

181 dentified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phe

182 e comparable between LCLs of two genetically unrelated individuals, providing the proof-of-principle

183 more pLOF variants identified in at least 2 unrelated individuals resulted in 241 genes from 1110 in

184 Unaffected unrelated individuals serving as controls were screened

185 lian randomization estimates from samples of unrelated individuals suggested that taller height and l

186 nd adult donors is highly correlated between unrelated individuals, suggesting that a large proportio

187 ity analysis using genome-wide SNP data from unrelated individuals, termed massively expedited genome

188 e GREML-LDMS method, we estimate from 44,126 unrelated individuals that all approximately 17 million

189 In simulations of unrelated individuals, the LTMLM statistic was correctly

190 /27), with 6 alleles recurring in apparently unrelated individuals, the most common of which was c.42

191 o involve both related (mother/daughter) and unrelated individuals, thus providing evidence for verti

192 were proposed for association studies, using unrelated individuals to identify associations between c

193 veloped a multivariate analysis framework in unrelated individuals to model directly the developmenta

194 of millions of phenotypes based on data from unrelated individuals tractable for the first time to ou

195 spring relationships) or horizontal (between unrelated individuals) transmission underpinned these pa

196 nd two oligoclonal lines obtained from three unrelated individuals used BV5.1, BJ2.1, and a conserved

197 or endophenotypes, in tandem with studies of unrelated individuals using categorical diagnoses, shoul

198 NA isolated from the white blood cells of 12 unrelated individuals using oligonucleotide arrays conta

199 ate heritability for human complex traits in unrelated individuals using whole-genome sequencing data

200 tool to compute heritability estimates from unrelated individuals, using genome-wide data that are i

201 tion of exome and Sanger sequencing in eight unrelated individuals, we present evidence that mutation

202 For samples of unrelated individuals, we propose a general analysis fra

203 In three unrelated individuals, we show that translocation breakp

204 Data from 898 unrelated individuals were obtained from the genome-wide

205 ongenital glaucoma probands, and 101 healthy unrelated individuals were recruited from a single insti

206 owever, this is difficult for populations of unrelated individuals when the number of causal variants

207 l images of their paternal half-siblings and unrelated individuals, when both animals are unfamiliar

208 damaged genes using small cohorts (n = 3) of unrelated individuals, wherein no two share the same del

209 elevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ foun

210 We report the detailed phenotypes of eight unrelated individuals who harbour this de novo mutation,

211 Here we describe 15 unrelated individuals who have DD and/or ID, central ner

212 ent detailed phenotypic information on eight unrelated individuals who have de novo missense and inse

213 Here, we report four unrelated individuals who have truncating or missense va

214 nt inheritance), and in only 1 of 19 (5%) of unrelated individuals who married into the family.

215 ochondrial RNase P protein 1 [MRPP1]) in two unrelated individuals who presented at birth with lactic

216 ucleotide polymorphism (SNP) data from 1,940 unrelated individuals whose intelligence was measured in

217 rans with an expanded allele was found in an unrelated individual with an atypical presentation, thus

218 Additionally, we detected one unrelated individual with biallelic PMS2 germline mutati

219 scribe an additional missense mutation in an unrelated individual with FTD.

220 Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genom

221 in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childho

222 iant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global de

223 p.Thr125Ile, p.Ser129Cys, and p.Thr130Ile-in unrelated individuals with a previously unrecognized syn

224 al protein RPL13 (also called eL13), in four unrelated individuals with a rare bone dysplasia causing

225 als representing three populations, and four unrelated individuals with a rare dominantly inherited d

226 ent detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense

227 encoding AP-1 complex subunit sigma1C, in 15 unrelated individuals with a severe autoinflammatory ski

228 nravel the underlying genetic cause in three unrelated individuals with a very similar and unique cli

229 neous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condi

230 report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS),

231 d lack somatic mutations; and that these two unrelated individuals with ALF use an identical predomin

232 genotyped 2732 individuals from families and unrelated individuals with and without clefts to investi

233 ts, which included 6/63 (10%) and 7/20 (35%) unrelated individuals with anemia, microcytosis, low ser

234 us, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genit

235 loss-of-function variants identified amongst unrelated individuals with any one of six developmental

236 >1500 subjects with 22q11.2DS identified six unrelated individuals with atypical deletions of differe

237 iPSCs were generated from 9 unrelated individuals with autism without macrocephaly a

238 mponents and 74 ciliopathy loci to screen 92 unrelated individuals with BBS, irrespective of their kn

239 A screen of a further four unrelated individuals with benign fleck retina detected

240 1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones

241 nger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent

242 , we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS.

243 We found that 4 of 19 unrelated individuals with common variable immunodeficie

244 rozygous TCF12 mutations in 347 samples from unrelated individuals with craniosynostosis.

245 Here we describe six unrelated individuals with de novo missense variants aff

246 We identified three unrelated individuals with de novo missense variants in

247 Herein, we describe seven unrelated individuals with de novo variants in SON and p

248 We identified two unrelated individuals with differing compound-heterozygo

249 DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosai

250 The targeted sequencing of AP3B2 in 86 unrelated individuals with EOEE led to the identificatio

251 Two unrelated individuals with epileptic encephalopathy carr

252 urrent de novo SCN8A mutation reported in 14 unrelated individuals with epileptic encephalopathy that

253 We sequenced the exomes of three unrelated individuals with familial multiple spinal meni

254 Screening of 52 unrelated individuals with FCD identified 2 additional p

255 Exome sequencing in five unrelated individuals with fever-dependent RALF revealed

256 The sequencing of seven unrelated individuals with GCT associated with PDB (GCT/

257 entified de novo mutations in ITPR1 in three unrelated individuals with GS recruited to the Decipheri

258 Here, we describe the identification of nine unrelated individuals with heterozygous de novo missense

259 Here, we report two unrelated individuals with homozygous CSF1R mutations wh

260 We describe unrelated individuals with ichthyosis, failure to thrive

261 and 27 mitochondrial genes were sequenced in unrelated individuals with increased LVWT (maximum LVWT

262 elic truncating mutations in TANGO2 in three unrelated individuals with infancy-onset episodic metabo

263 Here we describe two unrelated individuals with infantile-onset epilepsy and

264 ozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and o

265 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, cong

266 terozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macr

267 rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability.

268 etected heterozygous in 2 subjects among 100 unrelated individuals with KA who never relapsed after c

269 ng of 18 hypothesized candidate genes in 348 unrelated individuals with kidney stones.

270 omozygous regions at chromosome 6 and in 173 unrelated individuals with LCA or EORP.

271 We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify muta

272 e, which codes for uS12, are reported in two unrelated individuals with microcephaly, hearing loss, a

273 in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual di

274 A total of 727 additional unrelated individuals with molecularly uncharacterized R

275 Here we report six unrelated individuals with mutations in salt-inducible k

276 to an appropriate likelihood for a sample of unrelated individuals with next-generation sequence data

277 Sanger sequencing of 116 unrelated individuals with NM identified compound hetero

278 aplotype uncovered two additional apparently unrelated individuals with no known genealogical connect

279 By Sanger sequencing a cohort of 145 unrelated individuals with non-syndromic oligodontia, we

280 uencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identi

281 We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and mole

282 me-wide polygenic score (GPS) predictions in unrelated individuals with predictions between siblings

283 g protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental d

284 exome-wide collapsing analysis including 262 unrelated individuals with pulmonary fibrosis clinically

285 Three unrelated individuals with RALF onset <=3 years of age h

286 t Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compou

287 A screen of a further 333 unrelated individuals with recessive retinal degeneratio

288 In this report, we present two unrelated individuals with semilobar holoprosencephaly w

289 Exome sequencing in three unrelated individuals with severe prenatal-onset growth

290 Subsequent Sanger sequencing of 340 unrelated individuals with sporadic and autosomal-recess

291 We identified seven unrelated individuals with submicroscopic duplication in

292 predicting the presence of inhibitors in 25 unrelated individuals with the intron 22 inversion.

293 We report four unrelated individuals with the syndrome mandibulofacial

294 Three additional unrelated individuals with this condition were shown to

295 d exome sequencing of leukocyte DNA from 102 unrelated individuals with unexplained adenomatous polyp

296 , we use data from a mixture of pedigree and unrelated individuals with verified European ancestry to

297 , Czechoslovakia, is the first to describe 2 unrelated individuals with what is now called Hermansky-

298 eport three individuals (two siblings and an unrelated individual) with severe infantile epileptic en

299 is, we studied 139 index cases (probands and unrelated individuals) with FECD recruited from a cornea

300 of the methods applied to both trios and to unrelated individuals, with a focus on genomic-scale pro