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 s to detect IBD segments between purportedly unrelated individuals.

3 ich combines information across families and unrelated individuals.

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

5 exual competition, with little bonding among unrelated individuals.

6 genome is typically variable between any two unrelated individuals.

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

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

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

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

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

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

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

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

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

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

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

18 n their faecal bacterial communities than do unrelated individuals.

19 , 77.8% of which were identified in multiple unrelated individuals.

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

21 rapidly extracts a fixed number of maximally unrelated individuals.

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

23 eterozygous loci in monozygotic twins and in unrelated individuals.

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

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

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

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

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

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

30 genome that contain genomic imbalances among unrelated individuals.

31 ly correlated between relatives than between unrelated individuals.

32 performed in PKHD1 by DHPLC in 85 affected, unrelated individuals.

33 ose transcript levels differed greatly among unrelated individuals.

34 more feasible and less expensive to collect unrelated individuals.

35 l affected individuals but was absent in 150 unrelated individuals.

36 antitative trait of interest, through use of unrelated individuals.

37 ng alleles occurred frequently in apparently unrelated individuals.

38 el facilitates accurate imputation of SVs in unrelated individuals.

39 cies statistically from marker phenotypes in unrelated individuals.

40 he families and were not found in 100 normal unrelated individuals.

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

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

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

44 CRs that are frequently observed in multiple unrelated individuals.

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

46 vailable, not only consisting of homogeneous unrelated individuals.

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

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

49 sphorylation motifs were identified in eight unrelated individuals.

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

51 y cheetahs ablate skin graft rejection among unrelated individuals.

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

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

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

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

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

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

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

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

60 ndividualize KIR genotype to an extent where unrelated individuals almost always have different KIR t

61 ssion phenotype by comparing variation among unrelated individuals, among siblings within families an

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 tatistics that accommodate genotypes of both unrelated individuals and families, thereby combining th

68 orphism, we assessed KIR3D gene diversity in unrelated individuals and families.

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

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

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

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

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

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 formation usually associated with samples of unrelated individuals and provide a comprehensive way of

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

78 and qualitative traits in cohort studies of unrelated individuals and results from an extensive seri

79 0 methylation differences between T cells of unrelated individuals and several thousand differences b

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

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

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

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

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

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

86 , both haplotype data and genotype data from unrelated individuals and/or from general pedigrees can

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

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

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

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

91 practical for high-throughput haplotyping of unrelated individuals, and potentially allows direct obs

92 Through resequencing of genomic DNA from 128 unrelated individuals, and searching published reports a

93 of a strong LD between HLA-B and HLA-C loci, unrelated individuals are more likely to mismatch rather

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

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

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

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

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

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

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

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

102 ut overlapping Vgamma TCR repertoire between unrelated individuals can be extended including the muco

103 used to investigate how cooperation between unrelated individuals can evolve by natural selection.

104 A second unrelated individual carrying mutations in COASY was ide

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

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

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

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

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

110 We also identified an unrelated individual, CS, in whom speech and language im

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

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

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

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

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

116 are simplified by assembling a collection of unrelated individuals, e.g. case-control experiments.

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 Chuvash and 18 non-Chuvash), and 447 healthy unrelated individuals from Chuvash and other ethnic grou

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

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

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

132 mbers were heterozygous for the mutation; 20 unrelated individuals from Naxos and 43 autosomal domina

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

134 ion 2-4/2-7 in glioma patients compared with unrelated individuals from reference families but a sugg

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

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

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

138 se, as well as unaffected family members and unrelated individuals from the neighbouring Greek island

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

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

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

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

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

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

145 The two unrelated individuals had the same heterozygous missense

146 s and reconstruct haplotypes for a sample of unrelated individuals, haplotype reconstruction in large

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

148 s polymorphic for its presence or absence in unrelated individuals has been identified.

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

150 In two unrelated individuals in a cohort with developmental del

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

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

153 by sequencing the corresponding genes of 319 unrelated individuals in New York City.

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

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

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

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

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

159 r many diseases, population-based studies of unrelated individuals--in which case-control and cohort

160 Unrelated individuals increase the size of the donor poo

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

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

163 One well-known approach for a group of unrelated individuals involves using the trivially deduc

164 n human societies, where cooperation between unrelated individuals is frequent and social institution

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

166 Although genetic association studies using unrelated individuals may be subject to bias caused by p

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

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

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

170 ) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organi

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

172 Subsequently, we found this mutation in 11 unrelated individuals of diverse ethnic backgrounds.

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

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

175 the DBH locus surrounding -1021C-->T in 386 unrelated individuals of European origin.

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

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

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

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

180 telomere length and mortality in 143 normal unrelated individuals over the age of 60 years.

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

182 Two unrelated individuals presented with severe hypotonia, b

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

184 ated by blinded analysis of 100 samples from unrelated individuals representing all HLA-B phenotypes.

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

186 Only 1% of unrelated individuals seen at a tertiary referral center

187 This nucleotide deletion is found in five unrelated individuals sequenced, and therefore is likely

188 Unaffected unrelated individuals serving as controls were screened

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

190 bstitutions have recently been identified in unrelated individuals, suggesting they are relatively co

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

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

193 SNPs was investigated in 600 haplotypes from unrelated individuals (the parents).

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

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

196 d African mtDNA coding-region sequences from unrelated individuals to develop a more complete underst

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

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

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

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

201 We subsequently found VHL mutations in three unrelated individuals unaffected with CP, one of whom wa

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

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

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

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

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

207 In 864 Caucasian unrelated individuals, we describe haplotype-specific LD

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

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

210 In three unrelated individuals, we show that translocation breakp

211 LTA-TNF haplotypes in these unrelated individuals were determined using a combinatio

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

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

214 of LD, we recommend the use of at least 200 unrelated individuals when characterizing the extent of

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

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

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

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

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

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

221 bability of molecular HLA-C matching between unrelated individuals who match for both HLA-B alleles.

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

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

224 the phase-unknown marker-typing results from unrelated individuals will be sufficient.

225 estimated probability that the HLA-B-matched unrelated individuals will match for both HLA-C alleles

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

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

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

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

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

231 Here, we describe two unrelated individuals with a new autosomal recessive gen

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

233 We identified three unrelated individuals with a rare recessively inherited

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

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

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

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

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

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

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

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

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

243 For case-control studies, 617 unrelated individuals with AS (361 probands from sibling

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

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

246 1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones

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

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

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

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

251 We identified two unrelated individuals with differing compound-heterozygo

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

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

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

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

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

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

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

259 We screened 293 unrelated individuals with HCM seen at the Mayo Clinic i

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

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

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

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

264 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, cong

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

266 ription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated holoprosencephaly (H

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

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

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

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

271 mutational analyses to screen a pool of 262 unrelated individuals with LQTS for mutations in the 5 d

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

273 rithm is described for haplotype analysis of unrelated individuals with missing genotypes.

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

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

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

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

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

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

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

285 receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that appro

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

287 Mutations were found in 56 (47%) of 120 unrelated individuals with sporadic or familial CdLS.

288 Mutations were found in 54 of 119 (45%) unrelated individuals with sporadic or familial NS.

289 We identified seven unrelated individuals with submicroscopic duplication in

290 ly that susceptibility alleles are shared by unrelated individuals with the disease.

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

292 We report four unrelated individuals with the syndrome mandibulofacial

293 Three additional unrelated individuals with this condition were shown to

294 we identified a common founder chromosome in unrelated individuals with this substitution.

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