ライフサイエンスコーパス: pedigree

1 illness gene first identified in a Scottish pedigree.

2 the retinal dystrophy phenotype in the study pedigree.

3 en lead to the identification of the correct pedigree.

4 mutation rate from a deeply sequenced human pedigree.

5 nd kidney, and among all individuals in this pedigree.

6 out development and possesses a B-lymphocyte pedigree.

7 set retinal degeneration in a consanguineous pedigree.

8 he Ningyou7 pedigree than within the Tapidor pedigree.

9 estimating the likelihood for each retrieved pedigree.

10 in the Ningyou7 pedigree than in the Tapidor pedigree.

11 of markers and polygenic effects caused by a pedigree.

12 the NCAN gene co-segregating with DD in the pedigree.

13 tance in the parents and 11 children of this pedigree.

14 novo gene conversion within the lineage of a pedigree.

15 hter mtDNA genetic bottleneck in m.8993T>G/C pedigrees.

16 eleterious CFTR variants were absent in both pedigrees.

17 ower to detect distant relationships between pedigrees.

18 ustering of complex phenotypes in very large pedigrees.

19 ations segregate at different rates in human pedigrees.

20 and/or palate through the analysis of family pedigrees.

21 was consistent between simulated and actual pedigrees.

22 es in mammals but only a subtle one in human pedigrees.

23 methods to jointly include data from larger pedigrees.

24 at can be estimated by using genetic data in pedigrees.

25 ividual genotypes in natural populations and pedigrees.

26 h large numbers of genetic markers than with pedigrees.

27 y heritable disease, in randomly ascertained pedigrees.

28 2 Mexican-American individuals from extended pedigrees.

29 unphased high-throughput genotypes in family pedigrees.

30 hrenia in large unselected multigenerational pedigrees.

31 omplete medical records and three-generation pedigrees.

32 on sequence data that has been generated for pedigrees.

33 hat can simulate realistic sequence data for pedigrees.

34 esigned for high-throughput sequence data in pedigrees.

35 bgenome within both the Tapidor and Ningyou7 pedigrees.

36 lotypes from both outbred and consanguineous pedigrees.

37 in multiply affected Central European nsCPO pedigrees.

38 gate familial aggregation of traits in large pedigrees.

39 tion genetics, which average over population pedigrees.

40 segregated with severe COPD in at least two pedigrees.

41 from members of 26 Costa Rican and Colombian pedigrees [136 euthymic (i.e., interepisode) BP-I indivi

42 Twelve independent pedigrees (14 boys, age = 4-19 years) with mutations in

43 oint mutation in exon 7 of the IL-15 gene in Pedigree 191 (deficient memory (DM)) of N-ethyl-N-nitros

44 also estimated heritability of MR in 539 FHS pedigrees (7580 individuals).

45 We performed a genome-wide scan in 76 pedigrees (767 individuals) characterized for the abilit

46 We describe a pedigree affected by a severe combined immunodeficiency

47 555del leading to p.E518Dfs*2) in an Italian pedigree affected by sensorineural mild-to-moderate HHL

48 e variant segregated with the disease in the pedigree, affected a highly conserved amino acid residue

49 identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset pheno

50 Pedigree analyses of captive individuals suggest that re

51 -N gene (encoding centromere protein N), and pedigree analysis confirms the lethality of homozygosity

52 Based on 2927 individuals, our pedigree analysis revealed that longitudinal philopatry

53 4 controls and used deubiquitinase assays, a pedigree analysis, and a histopathological review to ass

54 trait loci (QTL) mapping, genetic diversity, pedigree analysis, and detection of heterozygosity.

55 riant frequency, predicted pathogenicity and pedigree analysis.

56 the same mutation in the previously reported pedigree and another Israeli pedigree (total of ten affe

57 data of 17 individuals in a three-generation pedigree and called variants in each genome using a rang

58 Here we used extensive pedigree and high-density SNP information in a wild popu

59 etrics of skull isosurfaces derived from 374 pedigree and mixed-breed dogs to dissect the genetics of

60 In addition, we store pedigree and phenotype data for our subjects.

61 ined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed

62 rare variant can be enriched in an extended pedigree and segregate with the phenotype.

63 In this study, we use data from a mixture of pedigree and unrelated individuals with verified Europea

64 ts; there is a lack of cosegregation in some pedigrees and an unexpectedly high frequency in public v

65 eased power offered by potentially unlimited pedigrees and controlled breeding, about half of our exo

66 Pedigrees and dense marker panels have been used to pred

67 mpling at wolf rendezvous sites to construct pedigrees and estimate recruitment in groups of wolves b

68 than coding variants to risk for BD, both in pedigrees and in the case-control cohort.

69 lamic neuropeptide expressions in the mutant pedigrees and mice with diet-induced obesity, which show

70 ription factor) in four familial Wilms tumor pedigrees and nine non-familial cases.

71 s, particularly for the analysis of extended pedigrees and pedigrees with missing data.

72 se (AD) trios owing to age structures of the pedigrees and the genetic heterogeneity of the disease,

73 E, we estimated relationships from simulated pedigrees and three extended pedigrees, correctly predic

74 mutations, were associated with less typical pedigrees and tumours lacking a characteristic BAP1-asso

75 e they co-segregated with the disease in all pedigrees and were absent in 300 unrelated controls.

76 ting the role of genetic testing, a detailed pedigree, and refined clinical surveillance recommendati

77 at the same amino acid position in multiple pedigrees, and cosegregation with disease in these pedig

78 substantially reduce the number of potential pedigrees, and often lead to the identification of the c

79 , when genetic data for individuals within a pedigree are missing, often multiple pedigrees can be re

80 e of rare variants, smaller studies based on pedigrees are again also common.

81 thal effects, in single or multiple combined pedigrees are then analyzed with Linkage Analyzer, a sof

82 ar whether these observations simply reflect pedigree ascertainment and publication bias.

83 Pedigree-aware distant-relationship estimation (PADRE) c

84 bed in this paper are the starting point for pedigree based selection of cultivars with high levels o

85 We developed a pedigree-based analysis pipeline (PBAP) suite of program

86 Using a combination of pedigree-based and LD-based imputation, we were able to

87 We discuss how useful pedigree-based concepts remain today and highlight oppor

88 STRs by using capillary electrophoresis and pedigree-based designs.

89 The model further suggests how to translate pedigree-based estimates of human mutation rates into sp

90 Here, we present a pedigree-based estimation of the mutation rate in this s

91 A pedigree-based genome-wide association study of 16 routi

92 In summary, a pedigree-based GWAS of blood-based clinical traits in th

93 A pedigree-based heritability analysis of Deltaage was con

94 It improved still further when pedigree-based imputation using larger pedigrees was als

95 Pedigree-based measured genotype analysis revealed signi

96 im analyses of highly heritable traits while pedigree-based methods can be used to best analyze trait

97 e IMputation ALgorithm), a fast and accurate pedigree-based phasing and imputation algorithm for foun

98 Pedigree-based samples often start with a dense marker p

99 s an unparalleled advantage over traditional pedigree-based selection (TS) methods by reducing the ti

100 We developed RarePedSim (Rare-variant Pedigree-based Simulator), a program to simulate region/

101 estimate higher than that reported by recent pedigree-based studies should be adopted in the context

102 Results show that pedigree-based tests that are sensitive to genotype erro

103 do not make use of Mendelian transmission in pedigrees, because this serves as a key difference betwe

104 pected genome sharing between individuals in pedigrees, but actual genome sharing can differ consider

105 so been found in familial cutaneous melanoma pedigrees, but their contribution to sporadic melanoma h

106 se the risk of psychiatric disorders in this pedigree by affecting neurostructural phenotypes such as

107 ral dementia linked to chromosome 17 in this pedigree by shifting tau transcription and translation t

108 , and genome-wide structural variations of a pedigreed C. a. sabaeus population.

109 ithin a pedigree are missing, often multiple pedigrees can be reconstructed that fit the data.

110 Pedigrees can be used to conduct analyses of and enhance

111 Such pedigrees can be utilized to calculate measures that exp

112 of non-random unknown parents in population pedigrees can substantially bias animal model prediction

113 d carrying the S98R variant and in two other pedigrees carrying clear loss-of-function alleles showed

114 Twenty-two Han Chinese pedigrees carrying m.14502T > C and m.11778G > A mutatio

115 e curve, 0.71-0.75) and, in combination with pedigree characteristics, were further improved.

116 Studying patients from three unrelated pedigrees characterized by neutropenia, specific granule

117 Detailed history, pedigree charting, systemic and ocular examination of 10

118 Pedigree charts were constructed for 829 individuals, in

119 However, pedigrees collected in wild populations commonly contain

120 o identify the cause of disease in extensive pedigrees comprising over 100 affected individuals.

121 position of exon 2 of TTR in 1 patient of 1 pedigree, confirming the diagnosis of FAP.

122 enotypes that are consistent with the family pedigree, confirms existing multigene variants and sugge

123 er than comparable methods, as determined by pedigree consistency of germline calls and comparison of

124 nome-wide identity by descent to reconstruct pedigrees consistent with observed genetic data.

125 from simulated pedigrees and three extended pedigrees, correctly predicting 20% more fourth- through

126 d 20 years of complete genetic paternity and pedigree data from wild song sparrows (Melospiza melodia

127 Quantified family pedigree data revealed no difference in mean number of f

128 ng sparrow (Melospiza melodia) phenology and pedigree data to estimate sex-specific additive genetic

129 'Animal models', which utilize pedigree data to separate genetic and environmental effe

130 edictability was observed when genotypic and pedigree data were included in the models and their inte

131 o use any of the packages to analyze general pedigree data, and SEM packages for genetics are limited

132 It can be easily used with general pedigree data, incorporating both measurement and struct

133 yndrome according to their clinical history, pedigree data, results from ophthalmological studies, an

134 Based on highly accurate pedigree data, we estimated the de novo mutation rate of

135 Regarding the analysis of pedigree data, we found that gene expression is familial

136 al estimates of heritability require twin or pedigree data, which can be costly and difficult to acqu

137 unders from the same habitat undetectable by pedigree data.

138 mework for SEM within the context of general pedigree data.

139 ization, and integrates tools for simulating pedigree data.

140 ed number of rare variant methods to analyze pedigree data.

141 lated from a deep and comparatively complete pedigree detected inbreeding depression in juvenile surv

142 monstrate that single DASC(p63/Krt5)-derived pedigrees differentiate to type I and type II pneumocyte

143 and identified two large extended multiplex pedigrees displaying apparent autosomal recessive inheri

144 application for haplotype visualization and pedigree drawing.

145 Resolving multigenerational pedigrees during a relatively short period, as we presen

146 linked to early-onset AD found in a Swedish pedigree enhances Abeta production, in contrast to a ben

147 CA12 encoding carbonic anhydrase XII in two pedigrees exhibiting CF-like phenotypes.

148 l scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletio

149 d 155 (17%) of 911 families with informative pedigrees fitted recognisable cancer syndromes.

150 Here we present the first multigenerational pedigree for a marine fish population by repeatedly geno

151 33 microsatellite loci to (1) reconstruct a pedigree for the insurance population and (2) estimate g

152 approach enables positive identification of pedigree from mismatched Y-STR haplotypes.

153 hole exomes from 347 subjects in 49 extended pedigrees from the Boston Early-Onset COPD Study.

154 from 4,472 US and Danish individuals in 574 pedigrees from the Long Life Family Study (United States

155 were tested in 2872 white individuals in 809 pedigrees from the Victorian Family Heart Study using va

156 The pedigrees, genotypes, and frequency of MSH3 mutations in

157 BD pedigrees had an increased burden of rare variants in ge

158 XI3 variant in a historical museum sample of pedigreed hairless dog skulls by using ancient DNA extra

159 a subjects revealed two additional recessive pedigrees harboring compound heterozygous mutations in C

160 morphologies (NDMs; first described in large pedigrees) has not been investigated in the general popu

161 Recent analyses of human pedigrees have called this understanding into question b

162 we combined parental and sibling data in FHS pedigrees, heritability of MR was estimated at 0.15 (95%

163 Whole-exome sequencing in independent large pedigrees identified cosegregating STX1B mutations predi

164 of affected families, including a very large pedigree, identified a single locus on Chromosome 21 lin

165 Here, we describe PRIMAL (PedigRee IMputation ALgorithm), a fast and accurate pedi

166 ents can be expected to structure population pedigrees in such a way that unlinked loci will show dev

167 es with Amsterdam I and II criteria-positive pedigrees in the Utah Population Database were identifie

168 5000 mutagenized mice established two obese pedigrees in which single nucleotide substitutions in Mc

169 to then allow us to concentrate on remaining pedigrees in which to unravel new diabetes genes.

170 P (estimated with 20 generations of complete pedigree) in populations with a recent reduction in the

171 enomic data to uncover components of distant pedigrees, in the absence of recorded pedigree informati

172 by descent (IBDG) is predicted better by the pedigree inbreeding coefficient (FP) or by genomic (mark

173 verage in all simulated scenarios, even when pedigrees included 20 generations.

174 Using reconstructed genetic pedigrees, individual reproductive success (RS) was esti

175 We used plasma lipidomic data (1202 pedigreed individuals, 319 lipid species representing 23

176 However, methods to combine IBS sharing and pedigree information for genetic prediction in humans ha

177 on either identity by state (IBS) sharing or pedigree information has been investigated extensively w

178 improved with inclusion of small amounts of pedigree information used to phase the data in evaluatio

179 Detailed clinical, pathological, and pedigree information was collected, and cancer diagnoses

180 istant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic BioMe biobank

181 By leveraging pedigree information, PADRE can even identify genealogic

182 hod based on multivariate mixed models using pedigree information.

183 common ancestral mutations by utilizing the pedigree information.

184 sidering climate data along-with genomic and pedigree information.

185 fects on lifetime fitness, using data from a pedigreed insular population of wild house sparrows.

186 Translating mutation rates estimated from pedigrees into substitution rates is not as straightforw

187 tity by descent status of alleles within the pedigree is undertaken, and output files are compatible

188 dedness and language lateralization in these pedigrees is 0.24 and 0.31, respectively.

189 We tested this prediction using a pedigreed laboratory population of Mediterranean field c

190 with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lie

191 In this study, we generated 6400 pedigreed M4 mutant pools from EMS-mutagenized BTx623 se

192 At least 1 patient in each pedigree manifested 1 or more of the following: macular

193 Based on the genetic pedigrees, many blocks can be traced back to a well-know

194 usly, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locus

195 To study gene expression correlations in the pedigree members (without incorporating genotype or trai

196 d either conditionally or unconditionally on pedigree members' qualitative or quantitative phenotypes

197 onstraints imposed by the genotypes of other pedigree members.

198 ilial, indicating that at least 1 factor for pedigree membership or multiple factors for the degree o

199 and phenotypic traits related to T2D in 850 pedigreed Mexican-American individuals.

200 Genomic and pedigree models coupled with environmental co-variables

201 ish that a large-scale resource of sequenced pedigreed mutants provides an efficient platform for fun

202 In a sample of randomly selected extended pedigrees (N=858), the authors used a combination of uni

203 valve prolapse (MVP) inheritance is based on pedigree observation and M-mode echocardiography.

204 th rings and three environments in a complex pedigree of 520 Pinus taeda individuals (CCLONES).

205 A whole-genome linkage analysis in a Finnish pedigree of eight cases with developmental dyslexia (DD)

206 The Soave-Brazil pedigree of m.11778G>A/ND4 mitochondrial DNA LHON mutati

207 A inhibitor, wherein the medicinal chemistry pedigree of primary sulfonamides has dominated for sever

208 On the basis of the family pedigree of the patient, the presence of both PMCA3 and

209 Analysis of cancers in the pedigree of the proband carrying the S98R variant and in

210 e, a set of elite cultivars that make up the pedigree of US runner germplasm were genotyped and used

211 linkage study in 37 multigenerational human pedigrees of both sexes (consisting of 355 subjects) enr

212 RC-seq) and whole-genome sequencing (WGS) to pedigrees of C57BL/6J animals, and uncovered an L1 inser

213 Based on large pedigrees of Holstein and Jersey cattle with genotype da

214 -ethyl-N-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recur

215 mission through the genealogy, or population pedigree, of the species.

216 Founder populations and large pedigrees offer many well-known advantages for genetic m

217 hobia phenotype appears to be segregating in pedigrees originally ascertained for schizophrenia.

218 Pedigrees originated in Italy, Brazil, Canada, England,

219 mixed models based on measured genotypes in pedigrees, permutation tests, and covariance kernels.

220 Although preliminary evidence from human pedigrees points towards a random drift process underlyi

221 Genomic and pedigree predictions for grain yield and agronomic trait

222 ees, and cosegregation with disease in these pedigrees provide evidence that p.Arg518Cys/His is the p

223 PRIMUS is a pedigree reconstruction algorithm that uses estimates of

224 ihoods from family networks reconstructed by pedigree reconstruction and identification of a maximum

225 The integration of genotypic data, pedigree records and shell formation model further expla

226 f different origins in a way consistent with pedigree records.

227 disequilibrium (LD), co-segregation (CS) and pedigree relationships or family structure (PR).

228 clinical heterogeneity observed across SCO1 pedigrees remain poorly understood phenomena.

229 with neonatal diabetes from a consanguineous pedigree revealed a large shared homozygous region (31 M

230 ole exome sequencing (WES) in members of one pedigree revealed a rare mutation in WISP3:c.156C > A (N

231 trospective analysis of patients selected by pedigree review of families who received counseling at 1

232 blood taken from a Mexican-American extended pedigree sample (n = 628; age = 23.28-93.11 years), epig

233 ew strategy to handle cases in which none of pedigree samples shares identical Y-STR haplotype.

234 There is high demand for forensic pedigree searches with Y-chromosome short tandem repeat

235 isaged that NGS+ will revolutionize forensic pedigree searches, especially when the person of interes

236 of the 'Paisa' pedigree, the world's largest pedigree segregating a severe form of early-onset AD, wh

237 tic analysis of circadian rhythm activity in pedigrees segregating severe BP (BP-I).

238 ce in the four methods, we applied FamSeq to pedigree sequencing data with family sizes that varied f

239 kage KELVIN, especially designed for complex pedigrees, several single nucleotide polymorphisms (SNPs

240 fied in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesting it could be causal mutati

241 ease, a majority of them focus on a specific pedigree structure and are designed to analyze either bi

242 nent for IBS sharing and one for approximate pedigree structure, both estimated with genetic markers.

243 both genotypes and phenotypes, regardless of pedigree structure.

244 r complex and Mendelian traits for any given pedigree structure.

245 hromosome (NRY) haplotypes to eliminate many pedigree structures that are inconsistent with the genet

246 ntly in other related individuals within the pedigree supporting the identification of a recessively

247 We show that derived stem-cell pedigrees sustain limited copy number and sequence varia

248 mber and length were greater in the Ningyou7 pedigree than in the Tapidor pedigree.

249 genes had been selected within the Ningyou7 pedigree than within the Tapidor pedigree.

250 ues, which in any case vary according to the pedigree that happens to be available.

251 e)) and likely in several members of a human pedigree that, in addition, suffer from atrial fibrillat

252 e it requires constructing multigenerational pedigrees that are currently lacking for marine fishes.

253 variants from 71 individuals of the 'Paisa' pedigree, the world's largest pedigree segregating a sev

254 otype, phenotype and expression data from 20 pedigrees, the members of our Genetic Analysis Workshop

255 ncing in ten individuals from four unrelated pedigrees to identify biallelic missense mutations in th

256 iously reported pedigree and another Israeli pedigree (total of ten affected individuals from three d

257 accurate phenotyping, haplotype analyses and pedigree tracking information, will accelerate marker-as

258 Additionally, haplotype analysis and pedigree tracking of 93 U.S. ancestral lines were perfor

259 erent inheritance patterns observed in human pedigrees transmitting pathogenic mtDNA mutations.

260 phasing distance, linear computing, flexible pedigree types and flexible genetic marker types.

261 hich can handle analyses for small and large pedigrees, typically human, and results can be used with

262 ted in CpG islands genome wide in 95 nuclear pedigrees, using DNA from peripheral blood leukocytes.

263 Here we present pedigree-VAAST (pVAAST), a disease-gene identification t

264 n and apply our approach to data from a wild pedigreed vertebrate population.

265 Clinical reevaluation of the pedigree was performed, followed by linkage analysis wit

266 The pedigree was reviewed for unaffected mutation carriers w

267 tively acquired database of the Soave-Brazil pedigree was reviewed.

268 when pedigree-based imputation using larger pedigrees was also added.

269 1RS chromatin, transmitted from early in the pedigree, was associated with enhanced WSMV resistance.

270 at are part of an extended multigenerational pedigree, we demonstrate that metabolism within a tripar

271 riation data in samples from a vervet monkey pedigree, we generated a transcriptome resource and prod

272 ing in a further Palestinian-Jordanian SPG23 pedigree, we identified a complex homozygous 4-kb deleti

273 ithms to Mendelian inheritance patterns on a pedigree; we compare calls from CLAMMS and other algorit

274 Subsequently, pedigrees were extended, and we confirmed that the mutat

275 ar examination of 10 eyes (5 patients from 2 pedigrees) were carried out.

276 ls from large, randomly ascertained extended pedigrees who participated in the Genetics of Brain Stru

277 ocus was originally identified in a Scottish pedigree with a high incidence of psychiatric disorders

278 genetic landscape of LOAD, even in a single pedigree with an apparent autosomal dominant pattern of

279 ed CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder.

280 als and 1 unaffected individual from a large pedigree with concomitant LQTS, HCM, and congenital hear

281 Taiwanese distal hereditary motor neuropathy pedigree with different ancestries and one additional Be

282 We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration

283 ariant recently was identified in a separate pedigree with ERED.

284 tive mutation in a single 3-generation Dutch pedigree with five subjects affected by a unique dominan

285 heritability analyses in a three-generation pedigree with in-depth phenotyping of both sleep EEG and

286 ly segregating variant in a dominant British pedigree with seven subjects affected by M-D.

287 We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at pos

288 Ten eyes of 5 patients from 2 pedigrees with a diagnosis of vitreous amyloidosis.

289 AG-GEFI), have been reported previously in 3 pedigrees with bleeding and reduced platelet aggregation

290 Dermal fibroblasts from two CMT1A pedigrees with confirmed PMP22 gene duplication were stu

291 puted tomography) findings of four unrelated pedigrees with DOPA-responsive dystonia in which pathoge

292 nduced pluripotent stem cells (iPSCs) from 2 pedigrees with germline RUNX1 mutations.

293 alyses of WARS in an additional 79 Taiwanese pedigrees with inherited neuropathies and 163 index case

294 y for the analysis of extended pedigrees and pedigrees with missing data.

295 lation admixture or substructure and analyze pedigrees with missing genotype data and its superior po

296 We describe 2 unrelated pedigrees with MTP and sensorineural hearing loss that s

297 -like phenotypes and identified 2 additional pedigrees with mutations at the same position, p.Arg518C

298 d families of arbitrary structure, including pedigrees with only affected individuals.

299 encing and phenotype data from 2042 cases in pedigrees with unexplained bleeding or platelet disorder

300 ically validating endophenotypes in extended pedigrees with very few affected individuals.