ライフサイエンスコーパス: pedigree

1 captive pairs matched artificially based on pedigree.

2 CDH1 analysis based on a 3-generation family pedigree.

3 the population and model drift on the known pedigree.

4 age analysis of this large multigenerational pedigree.

5 m has running-time O(n2) for an n-individual pedigree.

6 findings of Hereditary Myotonia in an inbred pedigree.

7 set retinal degeneration in a consanguineous pedigree.

8 estimating the likelihood for each retrieved pedigree.

9 of markers and polygenic effects caused by a pedigree.

10 he Ningyou7 pedigree than within the Tapidor pedigree.

11 in the Ningyou7 pedigree than in the Tapidor 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 illness gene first identified in a Scottish pedigree.

16 nd a dichotomous disease indicator in family pedigrees.

17 tion from WGS data in three-generation human pedigrees.

18 ees and compare to three multi-sibling human pedigrees.

19 yopathy, and sudden cardiac death in several pedigrees.

20 ed individuals from 49 familial Wilms tumour pedigrees.

21 2 occurred de novo and 3 co-segregated in 3 pedigrees.

22 individuals, comprising 33 three-generation pedigrees.

23 ysis of a single or a handful of informative pedigrees.

24 with a known pedigree, especially for large pedigrees.

25 se to identify high-risk rapid renal decline pedigrees.

26 bgenome within both the Tapidor and Ningyou7 pedigrees.

27 lotypes from both outbred and consanguineous pedigrees.

28 in multiply affected Central European nsCPO pedigrees.

29 gate familial aggregation of traits in large pedigrees.

30 tion genetics, which average over population pedigrees.

31 segregated with severe COPD in at least two pedigrees.

32 and muscle) of 36 mice from two independent pedigrees.

33 uence data from 32 individuals in four large pedigrees.

34 in high-density DA than in high-density AUD pedigrees.

35 be applied to large (e.g. three-generation) pedigrees.

36 of expertise to quickly and easily visualize pedigrees.

37 of 186 pedigrees and a discovery set of 138 pedigrees.

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

39 ta in parallel with three 3-generation human pedigrees (26 individuals).

40 e 33-49, 20 from familial and 22 nonfamilial pedigrees; 37 clinically affected relatives (ARs), 24 ma

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

42 counseling includes preparation of a family pedigree; a discussion about potential benefits, the pos

43 We describe a pedigree affected by a severe combined immunodeficiency

44 The second family is a six-generation pedigree affected predominantly by retinitis pigmentosa.

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

46 Our large, three-generation pedigrees allowed us to assess parent-of-origin effects

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

48 Parent-offspring and pedigree analyses identified two families with a history

49 of data for breeders, tools that facilitate pedigree analysis and visualization are scant, leaving b

50 The pedigree analysis detected closely related individuals a

51 A pedigree analysis of confirmed resistant PBLs revealed t

52 Pedigree analysis revealed inheritance only through the

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

54 Pedigree analysis suggested an autosomal recessive inher

55 tests for population differentiation, and a pedigree analysis to examine the spatial distribution of

56 4 controls and used deubiquitinase assays, a pedigree analysis, and a histopathological review to ass

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

58 Combined with pedigree analysis, cBROCA sequencing contributes to unde

59 n of Coats-like exudative vitreoretinopathy, pedigree analysis, genetic testing, retinal imaging, and

60 By applying pedigree analysis, we dissected and quantified the maint

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

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

63 coefficients was found, which validated the pedigree and enabled identification of errors in the ped

64 Here, we use extensive pedigree and genomic information from a long-studied nat

65 Using simulations with a combination of pedigree and genotype data, we found evidence for signif

66 s from two separate branches of the extended pedigree and identified a novel nonsynonymous homozygous

67 information from read-level data both in the pedigree and in unrelated samples.

68 activities in plants with no known medicinal pedigree and it will have applications in developing dis

69 of individuals in the largest segment of the pedigree and m is the number of cuts.

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

71 rom four US cohorts: a validation set of 186 pedigrees and a discovery set of 138 pedigrees.

72 rates and spectra in six multi-sibling mouse pedigrees and compare to three multi-sibling human pedig

73 apable of drawing complex multi-generational pedigrees and conforms to the accepted standards for dep

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

75 s in five individuals from three independent pedigrees and identified likely-pathogenic variants in D

76 mortality ratios (SMR) in multigenerational pedigrees and in close relatives of present-day patients

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

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

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

80 arge in the offspring of the highest density pedigrees and were stronger in high-density DA than in h

81 away from linkage analysis (relying on large pedigrees and/or multiple families with the same genetic

82 lyses of germline de novo mutations examined pedigrees (and not germ cells) and thus were likely affe

83 , and 52 probands from well-characterized ET pedigrees) and 200 controls and identified pathogenic NO

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

85 tation, which works even in the absence of a pedigree, and results in substantially improved imputati

86 avior differ between model systems and human pedigrees, and (ii) can we use current knowledge on repe

87 dual-based mark-recapture, multigenerational pedigrees, and genomics to test the demographic and evol

88 A relatively high correlation between pedigree- and marker-based kinship coefficients was foun

89 iages and prohibit breeding of some pairs of pedigree animals.

90 We demonstrate the effectiveness of our pedigree approach on a simulated trio of pseudo-diploid

91 lection among siblings as markers that track pedigree are of little use for forward selection of indi

92 SNP and pedigree-associated effects combined explained between 1

93 in the MRS, with a further 19% explained by pedigree-associated genetic effects and 16% by the share

94 We measured LTL by qPCR in pedigreed baboons fed a chow (n = 105) or HCHF (n = 106)

95 sociated with early-stage atherosclerosis in pedigreed baboons.

96 e then derived 13 empirical classes of these pedigrees based on the density of cases of AUD and DA.

97 Bayes-B GS methods were used and compared to pedigree-based (ABLUP) predictions.

98 Heritability was estimated using pedigree-based (QTDT) and SNP-based (GCTA-GREML) methods

99 essitating relatedness modeling and enabling pedigree-based analyses.

100 We take a pedigree-based approach and examine the social, psycholo

101 t mutations occur very rarely, and so direct pedigree-based approaches remain limited in the numbers

102 precise rate of such stochastic events using pedigree-based DNA methylation data as input.

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

104 fects of sex-specific life history and given pedigree-based estimates of the dependence of human muta

105 We obtain alternative estimates using pedigree-based estimates of the male mutation bias, whic

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

107 sed estimates of IBD segment endpoints and a pedigree-based genetic map.

108 gression, conversely, captured 64-89% of the pedigree-based heritability in all populations.

109 Despite the undoubted importance of pedigree-based matching of mates in conservation program

110 nvestigation, as well as the utility of this pedigree-based methodology to identify important breedin

111 sed, and whether the tree is calibrated with pedigree-based mutation rates or with fossils.

112 This was our impetus for forming the "Pedigree-Based Whole Genome Sequencing of Affective and

113 Studying complex diseases in pedigreed breeds facilitates tighter control of confound

114 We found telomere attrition in both pedigrees, but no mucocutaneous abnormalities suggestive

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

116 ccuracy of local ancestry inference in large pedigrees by: (1) using an existing algorithm to infer l

117 Information on crop pedigrees can be used to help maximise genetic gain in c

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

119 ibility in mice, we identified a susceptible pedigree carrying a causal truncating mutation in the Re

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

121 low penetrances of LHON were observed in 26 pedigrees carrying only m.3394T>C mutation, while 21 fam

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

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

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

125 Pedigree charts were constructed for 829 individuals, in

126 However, pedigrees collected in wild populations commonly contain

127 zygosity (ROH)/heterozygosity ratio, distant pedigree computation, and mitochondrial DNA (mtDNA) copy

128 rates among these individuals differ across pedigree configurations.

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

130 tified, from the Swedish population, 665,715 pedigrees containing a mean of 17.9 parents, aunts/uncle

131 re gene expression data (qTeller), visualize pedigree data (Pedigree Viewer), link genes with phenoty

132 bsolute breast cancer familial risk based on pedigree data and with BRCA1 and BRCA2 mutation status.

133 Many studies currently include pedigree data due to increasing interest in rare variant

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

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

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

137 alysis was based on Swedish population-scale pedigree data.

138 bability of parental assignment = 0.92, mean pedigree depth = 6 generations), we estimated both inbre

139 ssical, but inherently limited, hierarchical pedigree diagrams for a handful of plant varieties.

140 We believe ped_draw is a useful pedigree drawing tool that improves on current methods d

141 application for haplotype visualization and pedigree drawing.

142 Visualisation of the pedigree enables illustration of the key developments in

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

144 ficient of a set of individuals with a known pedigree, especially for large pedigrees.

145 unity, we identified animals within a single pedigree exhibiting both hypopigmentation of the fur and

146 Pedigree files are ubiquitously used within bioinformati

147 ng 31 years of trapping data and 28 years of pedigree for the European badger (Meles meles L.), a lon

148 33 microsatellite loci to (1) reconstruct a pedigree for the insurance population and (2) estimate g

149 Next, we describe several advantages of pedigrees for WGS research, including power estimates, m

150 We describe a large consanguineous pedigree from a remote area of Northern Pakistan, with a

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

152 ni syndrome (LFS) and analyze 324 LFS family pedigrees from four US cohorts: a validation set of 186

153 Applied on African-American pedigrees from the Cleveland Family Study, FamANC was ab

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

155 ficult to quickly and accurately visualize a pedigree given a pedigree text file.

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

157 ed from family members (n = 527) of extended pedigrees heavily loaded for bipolar disorder ascertaine

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

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

160 pedigree was demonstrated on a subset of the pedigree in which 110 genotyped varieties released befor

161 provide a rationale for the use of WGS with pedigrees in modern psychiatric genetics research.

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

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

164 We identified two unrelated pedigrees in which there was autosomal dominant transmis

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

166 We also used the pedigree, in combination with census data, to generate a

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

168 dividuals typically affected by FAME from 22 pedigrees including 16 previously reported families recr

169 we investigated 63 individuals from a single pedigree, including 55 with DNA available.

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

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

172 hern European population-based samples using pedigree information and Sequential Oligogenic Linkage A

173 ccuracy was 73.3% in the complete absence of pedigree information but increased to 100% when minimal

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

175 nger modeling may compensate for the lack of pedigree information, we tested two models that differed

176 generate chromosome-scale phasing or require pedigree information, which limits their application.

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

178 The visualization of pedigrees into connected nodes with descriptive shapes a

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

180 cific adjustment and the use of sires in the pedigree is only possible when mating of queens and dron

181 Currently, reconstruction of pedigrees is largely based on SNPs or microsatellites, o

182 Despite these advantages of a visual pedigree, it remains difficult to quickly and accurately

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

184 s, enterocolitis, and early lethality in two pedigrees: males with DKC1 p.Glu206Lys and two children

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

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

187 be generic but should be represented by the pedigrees, marker data, and phenotypic data for the actu

188 e possibility that the founders of the known pedigree may themselves be inbred and compute the approp

189 onstraints imposed by the genotypes of other pedigree members.

190 ewer at MaizeGDB has a dynamically-generated pedigree network of 4706 maize lines and 5487 relationsh

191 d their own breeding relationships, center a pedigree network on a plant variety, identify the common

192 hortest path(s) between two varieties on the pedigree network.

193 We used cell pedigree observations of NIH 3T3 cells including FUCCI m

194 report a linkage study of a six-generational pedigree of adult rats phenotyped for one dimension of i

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

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

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

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

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

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

201 lyze 107 late-onset Alzheimer disease (LOAD) pedigrees of Caribbean Hispanic and European ancestry wi

202 In pedigrees of chromosome 4 cluster KRAB-ZFP mutants, we i

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

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

205 d cousins of a core full-sibship we term the pedigree offspring.

206 m has running-time O(nd) for an n-individual pedigree on which to estimate the kinship coefficients o

207 and enabled identification of errors in the pedigree or marker data.

208 mine the probability of identifying multiple pedigrees or unrelated cases with variants in the same g

209 mation, such as generational groups, partial pedigrees, or genders.

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

211 l (17/20, 85%) than in sporadic (10/22, 45%) pedigrees (P=0.007).

212 Genomic and pedigree predictions for grain yield and agronomic trait

213 sing whole genome sequence (WGS) in extended pedigrees provides a cost-effective strategy for psychia

214 -8.0 mL/min/1.73 m(2)/year and 51 high-risk pedigrees (ranging in size from 1,450 to 24,501 members)

215 ates should be used rather than discarded in pedigree reconstruction, so long as the error rates can

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

217 We used 20 years of data from 5038 pedigree-registered Maine Coon cats in a radiographic he

218 Here we tracked pedigree relatedness between training and validation set

219 or only 257 hybrids, we used the genomic and pedigree relationship matrices to obtain the H matrix fo

220 Individuals of a specified pedigree relationship vary in the proportion of the geno

221 reeNet, to create and visualize customizable pedigree relationships in a network context, displaying

222 accurate and fast method that identifies the pedigree relationships of close relatives.

223 Pedimap can showcase pedigree relationships, phenotypic, and molecular data.

224 ine tool to represent and visually customize pedigree relationships.

225 egree of relatedness of sample pairs and not pedigree relationships.

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

227 Here we used 10-year pedigrees resolved for a wild orange clownfish populatio

228 We present a pedigree resource of 2,657 wheat (Triticum aestivum L.)

229 ghlights the benefits of generating detailed pedigree resources for crop species.

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

231 an traits the power of detecting linkage for pedigree(s) can be determined, it is also of great inter

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 chiatric features of offspring from extended pedigrees selected for high-densities of alcohol use dis

237 We present a novel pedigree sequence graph based approach to diploid assemb

238 Analysis of multiple HD pedigrees showed that this LOI variant is associated wit

239 n risk for some individuals, with many large pedigrees showing autosomal inheritance patterns.

240 h imputation accuracy from MERLIN depends on pedigree splitting for larger families.

241 onses to temperature of a set of cultivated, pedigreed strains representative of the field population

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

243 ccuracy by correcting inference errors using pedigree structure.

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

245 have been extended to family data with known pedigree structures.

246 n and minimized selection effects present in pedigree studies.

247 or Subtyping in High-Risk Breast-Cancer Gene Pedigrees, Study of Shared Genomic Segment Analysis for

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

249 and accurately visualize a pedigree given a pedigree text file.

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

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

252 men, age >= 40 years, who were members of a pedigree that included at least 3 consecutive generation

253 Using a pedigree that was reconstructed using genetic and field

254 ding these processes requires the population pedigree, the set of relationships among all individuals

255 We used a genetic pedigree to calculate trait heritability, to investigate

256 ed whole exome sequencing of two independent pedigrees to identify two premelanosome protein (PMEL) v

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

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

259 with FH were observed for EO disease in all pedigree types, consistent with the contribution of gene

260 5 mL/min/1.73 m(2)/year) were then mapped to pedigrees using extensive genealogical records from the

261 ion data (qTeller), visualize pedigree data (Pedigree Viewer), link genes with phenotype images (Maiz

262 ient and pragmatic decisions if an organized pedigree visualization platform is available for the acc

263 es and genotypes were arranged in Pedimap, a pedigree visualization tool.

264 nd web tool as a simple and easy solution to pedigree visualization.

265 orms to the accepted standards for depicting pedigrees visually.

266 A pedigree was constructed, based on family clinical data.

267 Selection across the pedigree was demonstrated on a subset of the pedigree in

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

269 The pedigree was reviewed for unaffected mutation carriers w

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

271 1RS chromatin, transmitted from early in the pedigree, was associated with enhanced WSMV resistance.

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

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

274 th time-lapse microscopy and the analysis of pedigrees, we find that although individual stem-cell cl

275 In patients from 2 independent pedigrees, we have identified what we believe to be a no

276 High rates of AUD or DA in the pedigrees were associated in the offspring with lower le

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

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

279 cale diploid genomes of all individuals in a pedigree, while being cost-effective in terms of sequenc

280 ified two further members of the same family pedigree who shared the variant.

281 ngside an A-band TTN truncating variant in a pedigree with aggressive, early-onset DCM.

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

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

284 reviewing medical records of 7 members of a pedigree with NTG caused by TBK1 gene duplications.

285 In conclusion, this study reports the third pedigree with recessive TSPYL1 variants, confirming that

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

287 Offspring of pedigrees with a high density of AUD or DA are multiply

288 ly trait correlations and can handle general pedigrees with arbitrary patterns of missing genotypes.

289 lated families from an additional 38 Chinese pedigrees with autosomal dominant hereditary spastic par

290 report on eight patients from six unrelated pedigrees with biallelic loss-of-function mutations in R

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

292 d imputation methods on family data of large pedigrees with both European and African ancestry.

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

294 netic variants, has been biased in favour of pedigrees with higher penetrance.

295 cotland (GS) dataset, CREST identified seven pedigrees with incorrect relationship types or maternal/

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

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

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

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

300 fied the parental pairs of 15 lines of known pedigree within a test population of 77 accessions of Ac