ライフサイエンスコーパス: homozygosity

1 tively, among those with two copies (DR3-DQ2 homozygosity).

2 for studying the consequences of mutant JAK2 homozygosity.

3 pe in patients as a consequence of JAK2V617F homozygosity.

4 rozygosity, and 56% of SD patients having GG homozygosity.

5 es protein truncation, was never observed in homozygosity.

6 rf5(-/-) mice and inadvertently been bred to homozygosity.

7 ructural defects in kidneys and ureters upon homozygosity.

8 tical for generating fine-scale variation in homozygosity.

9 occurrence of strong (47%) selection against homozygosity.

10 raction of the genome that comprises runs of homozygosity.

11 e G alleles with 8% of SD patients having AA homozygosity, 35% of SD patients having AG heterozygosit

12 ut the KS risk 80% higher with HLA-C group 1 homozygosity (adjusted OR, 1.8; P = .005).

13 In this study, we combined WES with homozygosity analysis of consanguineous pedigrees, which

14 Extended haplotype homozygosity analysis of the wild-type 1575N allele show

15 examination, and exome sequencing guided by homozygosity analysis.

16 trated an association between TLR2 R753Q SNP homozygosity and CMV disease (P = .044), especially tiss

17 or genome with extensive blocks of increased homozygosity and corresponding increases in allele-speci

18 nificant associations between summed runs of homozygosity and four complex traits: height, forced exp

19 n expectations for coalescence times and for homozygosity and heterozygosity values.

20 patterns previously observed for locus-wise homozygosity and linkage disequilibrium.

21 tions between HLA genotypes, haplotypes, and homozygosity and protective antigen (PA)-specific cellul

22 We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland

23 dy of association between deletion or excess homozygosity and rheumatoid arthritis using high-density

24 wed associations between rs1535 minor allele homozygosity and rs174448 major allele carriage and impr

25 n the immune system, followed by breeding to homozygosity and testing for immune system phenotypes.

26 gnificant association between TLR2 R753Q SNP homozygosity and tissue-invasive CMV disease (hazard rat

27 XP-EHH (cross-population extended haplotype homozygosity), and used it to identify genomic regions a

28 n detect subclonal heterogeneity and somatic homozygosity, and it can calculate statistical sensitivi

29 oor adherence to a gluten-free diet, HLA-DQ2 homozygosity, and late diagnosis of CD are recognized as

30 ferative neoplasm, acquisition of JAK2 V617F homozygosity, and the balance of immature progenitors we

31 Runs of homozygosity are of a similar length to those from Neoli

32 ed a mutation in RAP1A that was converted to homozygosity as the result of uniparental isodisomy (UPD

33 Finally, homozygosity at an increasing number (>/= 4) of HLA loci

34 tically significant evidence of deletions or homozygosity at individual SNPs for SNP-by-SNP analyses

35 investigate potential detrimental effects of homozygosity at later developmental stages, our results

36 The impact of HLA homozygosity at mismatched (MM) loci on the outcome of 2

37 o glycine mutation at codon 176, with valine homozygosity at polymorphic codon 129.

38 ared identical-by-descent (IBD) and compared homozygosity at such segments in cases and controls.

39 6 in antagonizing angiogenic response in Met homozygosity at the BDNF locus, we crossed BDNF(Met/Met)

40 th the ecological literature suggesting that homozygosity at the MHC locus may be associated with vul

41 zing additional consanguineous families with homozygosity at this locus, we detected ILDR1 mutations

42 Following FST and two extended haplotype homozygosity-based (iHS and Rsb) analyses 24 candidate g

43 reference SNP database to define regions of homozygosity-by-descent by low coverage, whole-genome se

44 tion, it is unlikely that levels of measured homozygosity caused by autozygosity, uniparental isodiso

45 arks, males in birds) and by having elevated homozygosity compared to their mother [1-3], which may r

46 ilon4 homozygotes; the frequency of epsilon4 homozygosity decreased from 2.7% for participants aged 6

47 ity relative to mean Hardy-Weinberg expected homozygosity (FH), and two measures (FROH and FE) that u

48 Homozygosity for *28/*28 was present in 8% of whites, 24

49 Watterson test of homozygosity showed excess homozygosity for 5-locus haplotypes within 23 US populat

50 Genetic testing of the LCT gene revealed homozygosity for a 1-bp deletion in exon 8 (c.3448delT).

51 ximately 16% of the global population due to homozygosity for a common nonsense polymorphism in the A

52 rative disease caused in almost all cases by homozygosity for a GAA trinucleotide repeat expansion in

53 Homozygosity for a hypomorphic acd allele preserved the

54 Genetic analysis revealed homozygosity for a known CYP27A1 mutation (c.1263+1G -->

55 ncing in a cohort of patients and identified homozygosity for a missense mutation, p.E80K, in Intesti

56 viously reported on a unique patient in whom homozygosity for a mutation at IRF8 (IRF8(K108E)) causes

57 GBA gene sequencing revealed homozygosity for a novel mutation, D137N.

58 Homozygosity for a recurrent 290 kb deletion of NPHP1 is

59 Homozygosity for a sequence variant causing Y402H and I6

60 in the SGLT2 coding gene (SLC5A2) displayed homozygosity for a splicing mutation (c.176+1G>A) in the

61 ominant-negative mutations in transfectants, homozygosity for A144E in mice resulted in absent TACI e

62 r data establish C2 as novel risk factor and homozygosity for C1 as protective for childhood B-ALL su

63 d with resistance to HIV-1 infection, beyond homozygosity for CCR5-Delta32.

64 luding previously unreported changes such as homozygosity for DNMT3A R882 mutations.

65 -expressing genotype [deficiency] defined as homozygosity for exon 1 mutations [YO/YO] or compound he

66 th activating KIR3DS1 plus HLA-B Bw4-80I and homozygosity for HLA-C group 1.

67 or heterozygosity for HLA-C1 vs. 37.3% with homozygosity for HLA-C2; hazard ratio, 0.46; 95% CI, 0.2

68 direct genetic evidence and demonstrate that homozygosity for human JAK2V617F in knock-in mice result

69 It arises through germline homozygosity for hypomorphic VHL alleles and has a pheno

70 Recently, we described that homozygosity for inactivating mutations in SMIM1 defines

71 entage of blasts, IPSS prognostic score, and homozygosity for JAK2V617F (hazard ratio = 3.3; P = .006

72 Homozygosity for loss-of-function of the Lzts2-targeted

73 a higher rate of compound heterozygosity and homozygosity for MC1R variants.

74 ared with wild-type endothelial cells (ECs), homozygosity for MICA A5.1 associated with an endothelia

75 In contrast, homozygosity for mutations in other regions of NALCN has

76 Homozygosity for pLoF mutations at PLA2G7 was associated

77 Homozygosity for such gain-of-function mutations is thou

78 Homozygosity for the A allele at rs12938031 may increase

79 and the most common cause of this disease is homozygosity for the antitrypsin-Z variant (ATZ).

80 Homozygosity for the c.338C>T (p.Ser113Leu) variant is a

81 Homozygosity for the genetrap allele was embryonic letha

82 Homozygosity for the highly prevalent ATG16L1 risk allel

83 Homozygosity for the HLA-Bw4 allele was strongly associa

84 pedigree analysis confirms the lethality of homozygosity for the inversion.

85 sease progression, whereas heterozygosity or homozygosity for the major alleles (CT/CC and TG/TT, res

86 ent with a transition from heterozygosity to homozygosity for the MPL mutation in clonal cells.

87 duced no homozygous progeny, suggesting that homozygosity for the mutation is lethal.

88 he germ line of F0 animals, usually delaying homozygosity for the mutation to the F2 generation.

89 podystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently a

90 uited from our new registry of patients with homozygosity for the p.Cys89Tyr mutation on CD59.

91 maternal mtDNA mutations were combined with homozygosity for the PolgA mutation, leading to de novo

92 families of Iraqi Jewish ancestry was due to homozygosity for the protein truncating mutation SYNE4 c

93 rum IgE levels, especially in the absence of homozygosity for the risk allele of FCER1A SNP rs2427837

94 Homozygosity for the schizophrenia risk allele (T) of rs

95 In conclusion, homozygosity for TLR2 R753Q SNP is a marker for CMV dise

96 Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.56

97 m ferritin concentration and negatively with homozygosity for VHL(R200W).

98 We find that F estimated from runs of homozygosity (Froh), which reflects shared ancestry of g

99 to clinical evaluation, immunologic assays, homozygosity gene mapping, exome sequencing, Sanger sequ

100 Patterns of haplotype homozygosity, genetic diversity, site frequency spectra,

101 Because inbreeding results in elevated homozygosity, greater expression of recessive alleles, a

102 HFE C282Y homozygosity had the most marked independent association

103 Homozygosity has long been associated with rare, often d

104 on, Tajima's D, Fu and Li's D, and haplotype homozygosity have lower power to detect population-speci

105 Crossover remodeling at homozygosity-heterozygosity junctions requires interfere

106 the association of specific HLA alleles, HLA homozygosity, HLA concordance, race and ethnicity, and m

107 Genome-wide examination of runs of homozygosity identified an excess in cases localized to

108 itive function and successful aging, whereas homozygosity (if it ever occurs) will lead to severe neu

109 Reduction of a founder mutation to homozygosity illustrates the importance of rare variatio

110 phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated p

111 this allele was found deleted in hetero- or homozygosity in all groups at ~50% frequency.

112 This mating system results in complete homozygosity in all progeny and has important evolutiona

113 novel approach to identify regions of excess homozygosity in an ethnically homogenous cohort: 904 sch

114 his study provides evidence for an excess of homozygosity in coronary artery disease in outbred popul

115 We found a significant excess of homozygosity in schizophrenia cases compared with contro

116 In sum, homozygosity in the classical MHC region appears to conv

117 Enriched homozygosity in the Parsi reflects their recent isolatio

118 thereby converting heterozygous mutations to homozygosity in the vast majority of somatic and germlin

119 arter of the total population and found that homozygosity increased toward the island's periphery.

120 equency spectra and high levels of haplotype homozygosity, indicative of founder effects and recent p

121 To examine whether homozygosity is associated with an increased risk of dev

122 Col5a2(-/-) homozygosity is embryonic lethal at approximately 12 day

123 ost regions show significant heterozygosity; homozygosity is largely concentrated to one region and a

124 e of HFE (High Iron) 282 Cys --> Tyr (C282Y) homozygosity is relatively high in Caucasians.

125 lpha1-antitrypsin deficiency (typically PiZZ homozygosity) is associated with a significantly increas

126 factor of the phenotypic expression of C282Y homozygosity, likely through an increase of circulating

127 segregant linkage (BSFseq) and one based on homozygosity mapping (HMFseq).

128 Finally, homozygosity mapping analyses in 15 families including a

129 from blood-derived genomic DNA was used for homozygosity mapping and a rare variant search.

130 In addition, exomeSuite can perform homozygosity mapping and analyze the variant data of mul

131 Homozygosity mapping and candidate gene sequencing revea

132 Using homozygosity mapping and direct sequencing in a multiple

133 Combined homozygosity mapping and exome sequencing identified a b

134 Homozygosity mapping and exome sequencing identified a s

135 A combination of homozygosity mapping and exome sequencing identifies a h

136 Homozygosity mapping and exome sequencing in a large, co

137 Homozygosity mapping and exome sequencing revealed a nov

138 n to healthy consanguineous parents, we used homozygosity mapping and exome sequencing to identify a

139 Here, we used a combination of homozygosity mapping and exome sequencing to identify mu

140 We used homozygosity mapping and exome sequencing to study a coh

141 multiplex consanguineous Jordanian family by homozygosity mapping and exome sequencing, then used pat

142 scopy, and genetic investigations, including homozygosity mapping and exome sequencing, were performe

143 Genetic analyses included homozygosity mapping and exome sequencing.

144 Homozygosity mapping and linkage analysis identified a c

145 aracterization of seven patients followed by homozygosity mapping and linkage analysis were performed

146 Using a combination of homozygosity mapping and next-generation sequencing in t

147 Homozygosity mapping and Sanger sequencing confirmed tha

148 In 1 patient, homozygosity mapping and subsequent segregation analysis

149 Homozygosity mapping and WES in the only other reported

150 Using homozygosity mapping and WES, we identified the causativ

151 Homozygosity mapping and whole exome sequencing (WES) we

152 Single nucleotide polymorphism homozygosity mapping and whole exome sequencing identifi

153 Here, we performed homozygosity mapping and whole exome sequencing in a Tur

154 Using combined homozygosity mapping and whole exome sequencing, a genet

155 By homozygosity mapping and whole exome sequencing, we here

156 Here, using a combination of homozygosity mapping and whole human exome resequencing,

157 Using homozygosity mapping and whole-exome and candidate gene

158 Here, homozygosity mapping and whole-exome sequencing (WES) in

159 The authors performed homozygosity mapping and whole-exome sequencing in 2 con

160 We performed homozygosity mapping and whole-exome sequencing in 5 pro

161 Using a combination of homozygosity mapping and whole-exome sequencing in a con

162 We performed homozygosity mapping and whole-exome sequencing in a Sar

163 We performed homozygosity mapping and whole-exome sequencing in an at

164 Homozygosity mapping and whole-exome sequencing in an IO

165 Homozygosity mapping and whole-exome sequencing of DNA f

166 In this study, we used homozygosity mapping and whole-exome sequencing to ident

167 We used homozygosity mapping and whole-exome sequencing to ident

168 Homozygosity mapping and whole-exome sequencing were con

169 By homozygosity mapping and whole-exome sequencing, a biall

170 By performing homozygosity mapping and whole-exome sequencing, we foun

171 Using homozygosity mapping and whole-exome sequencing, we iden

172 Using a combination of homozygosity mapping and whole-exome sequencing, we iden

173 Here, using homozygosity mapping and whole-exome sequencing, we iden

174 By homozygosity mapping and whole-exome sequencing, we iden

175 We used a high-resolution homozygosity mapping approach in a cohort of patients wi

176 Homozygosity mapping by whole genome de novo assembly al

177 Homozygosity mapping combined with exome sequencing was

178 Linkage analysis and homozygosity mapping combined with exome sequencing were

179 We used homozygosity mapping combined with next-generation seque

180 In the second family, homozygosity mapping coupled to whole exome sequencing i

181 Homozygosity mapping followed by exome sequencing is a s

182 Using homozygosity mapping followed by exome sequencing, we id

183 A founder mutation was searched for using homozygosity mapping followed by exome sequencing.

184 deleterious mutation in the DST gene, using homozygosity mapping followed by exome sequencing.

185 Homozygosity mapping followed by whole-exome sequencing

186 Homozygosity mapping followed by whole-exome sequencing

187 massively parallel sequencing combined with homozygosity mapping identified a homozygous novel mutat

188 interval by means of SNPchip genotyping and homozygosity mapping in 2 families with HIES from Tunisi

189 ominated diseases, we performed whole genome homozygosity mapping in 52 consanguineous families (of t

190 his study highlights the clinical utility of homozygosity mapping in diagnosing autosomal recessive m

191 By combining homozygosity mapping in Finnish families with Sanger seq

192 Using homozygosity mapping in the family and exome sequencing

193 Through a combination of homozygosity mapping in the Greenlandic individuals and

194 We used homozygosity mapping in two families with autosomal-rece

195 Homozygosity mapping localized the disease locus to a re

196 Here we report homozygosity mapping of an infantile neurodegenerative d

197 omozygosity patterns that can be used to aid homozygosity mapping of genes associated with recessive

198 Through homozygosity mapping of the affected individuals followe

199 Homozygosity mapping or exome sequencing analysis was pe

200 entified in 6 unrelated families with LCA by homozygosity mapping or Sanger sequencing.

201 Homozygosity mapping revealed two candidate genes, SAMD7

202 Homozygosity mapping strategy and sequencing of the cand

203 ociation studies in admixed populations, and homozygosity mapping studies.

204 ith parental consanguinity were subjected to homozygosity mapping that identified a second IIH gene l

205 We used homozygosity mapping to identify an approximately 12-Mbp

206 y emphasizes the potential utility of shared homozygosity mapping to identify genetic causes of inher

207 Homozygosity mapping uncovered DPP4, TRHR, and MLF1 as n

208 We performed homozygosity mapping using 610,000 K single-nucleotide p

209 Here, we carried out genome-wide homozygosity mapping using Illumina Ovine SNP50 BeadChip

210 To identify the causative gene, we performed homozygosity mapping using single-nucleotide polymorphis

211 Homozygosity mapping using the Affymetrix 6.0 chips demo

212 High-resolution homozygosity mapping was performed in 44 patients with L

213 Genomewide homozygosity mapping was used to identify a candidate re

214 Homozygosity mapping was used to identify potential defe

215 In one family, homozygosity mapping with subsequent candidate gene anal

216 We combined homozygosity mapping with whole-exome resequencing and i

217 re, we overcome this limitation by combining homozygosity mapping with whole-exome resequencing in a

218 By a combination of linkage analysis, homozygosity mapping, and exome sequencing in three fami

219 dditional affected family members, performed homozygosity mapping, and identified a homozygous splici

220 Using homozygosity mapping, array CGH, and exome sequencing, w

221 We performed genome-wide homozygosity mapping, followed by whole-exome sequencing

222 l recessive mode of inheritance, we employed homozygosity mapping, followed by whole-exome sequencing

223 We performed genome-wide homozygosity mapping, followed by whole-exome sequencing

224 e nucleotide polymorphism-based whole-genome homozygosity mapping, Sanger sequencing, and gene-target

225 Causative mutations were sought using homozygosity mapping, Sanger sequencing, and massively p

226 a combination of whole exome sequencing and homozygosity mapping, we identified distinct pathogenic

227 Through genomewide homozygosity mapping, we localized the disease gene to c

228 We performed genome-wide homozygosity mapping, whole-exome and Sanger sequencing,

229 dentify a genetic form of SSNS, we performed homozygosity mapping, whole-exome sequencing, and multip

230 nucleotide polymorphism arrays were used for homozygosity mapping.

231 BP1 nor in RDH5 were analyzed by genome-wide homozygosity mapping.

232 (COQ6) in 13 individuals from 7 families by homozygosity mapping.

233 mplementing traditional linkage analysis and homozygosity mapping.

234 We used runs of homozygosity-multiple homozygous SNPs in a row-to estima

235 rate that recurrent acquisition of JAK2V617F homozygosity occurs frequently in both PV and ET.

236 e-wide variation and a sharp increase in the homozygosity of deleterious variants.

237 Driven principally by consanguineous homozygosity of GLRB mutations, the study reveals long-t

238 Homozygosity of p.Ser267Phe in SLC10A1 is associated wit

239 One patient showed homozygosity of SNPs across chromosome 6, and segregatio

240 979860 and rs8099917 revealed a link between homozygosity of the minor alleles (TT and GG, respective

241 population might be explained in part by the homozygosity of unknown loci that could harbor recessive

242 ence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprote

243 he mutation is located in one of the runs of homozygosity on chromosome 2.

244 nome-wide genotyping delineated 2 regions of homozygosity on chromosomes 13q12.11 to 13q12.13 and 19q

245 a now allow us to investigate the effects of homozygosity on traits of public health importance by ob

246 Only 2 truncating mutations were reported in homozygosity, one of which (c.1150-1151del) was associat

247 Our findings demonstrate that homozygosity or compound heterozygosity for null mutatio

248 868 cases and 1194 controls to detect excess homozygosity or deletion variants that influence suscept

249 C2 did not provide any advantage (24.9% with homozygosity or heterozygosity for HLA-C1 vs. 37.3% with

250 estimators of F and three metrics of genomic homozygosity (or heterozygosity) by analysing both simul

251 esults provide insight into the way in which homozygosity patterns are produced, and they generate ba

252 rns are produced, and they generate baseline homozygosity patterns that can be used to aid homozygosi

253 Given the low levels of genome-wide homozygosity prevalent in most human populations, inform

254 ations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rath

255 Principal component analysis (PCA), homozygosity rate estimations, and linkage studies in hu

256 ment for population substructure, estimating homozygosity rates in individuals, and powerful linkage

257 ilies including a single offspring with high homozygosity rates showed that WES provided 51% less gen

258 ES also yielded highly reliable estimates of homozygosity rates using runs of homozygosity with a 1,0

259 e-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contribu

260 eas of elevated diversity and areas of fixed homozygosity, reinforcing recent findings that genome di

261 of IBDG included the increase in individual homozygosity relative to mean Hardy-Weinberg expected ho

262 Breeding to homozygosity resulted in a novel transgenic rat line exc

263 Here we show that VRK1-R358X homozygosity results in lack of VRK1 protein, and demons

264 Runs of homozygosity (ROH) are important genomic features that m

265 Runs of homozygosity (ROH) are long stretches of consecutive hom

266 ikelihood-based approach to identify runs of homozygosity (ROH) in 1,839 individuals representing 64

267 conducted a genome-wide analysis of runs of homozygosity (ROH) in simplex ASD-affected families cons

268 Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbr

269 Runs of homozygosity (RoHs) are genomic stretches of a diploid g

270 Runs of homozygosity (ROHs) are recognized signature of recessiv

271 ion exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced b

272 be linked to long (>1-megabase [Mb]) runs of homozygosity (ROHs) detectable by single-nucleotide poly

273 Runs of homozygosity (ROHs) pattern and distribution in Sardinia

274 rare recessive mutations among long runs of homozygosity (ROHs), in which both parental alleles are

275 Genome-wide patterns of homozygosity runs and their variation across individuals

276 icum (PXE), resided within a small region of homozygosity shared by the affected siblings.

277 Finally, the Ewens-Watterson test of homozygosity showed excess homozygosity for 5-locus hapl

278 iferative (LP) responses to AVA, analyses of homozygosity supported the hypothesis of a "heterozygote

279 .446C>G; p.P149R) located within a region of homozygosity that was present in the affected daughters

280 rphisms was performed to identify regions of homozygosity that were present in the proband and the 32

281 to understand better the role of JAK2(V617F) homozygosity, the function of comutations in epigenetic

282 Here we use runs of homozygosity to study 16 health-related quantitative tra

283 nd homologous recombination events result in homozygosity toward the telomeres.

284 o Synechocystis and was easily segregated to homozygosity under laboratory conditions.

285 icted polyploidization event and substantial homozygosity underlying fixed heterozygote SSR genotypes

286 rdance analysis of SNPs and INDELs requiring homozygosity unique to all unilateral and bilateral case

287 In each case, increased homozygosity was associated with decreased trait value,

288 Homozygosity was associated with earlier age at onset of

289 1 insertions; significant extended haplotype homozygosity was detected around several L1 insertions.

290 (HLA-A) and class II (HLA-DQA1 and HLA-DQB1) homozygosity was significantly associated with an overal

291 the Sprn 3' UTR; the resulting mice bred to homozygosity were viable and fertile, although Sprn(0/0)

292 rental relatedness, measured through runs of homozygosity, were found to be similar across Pakistani

293 ving contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along

294 lecular nature for 10 lines and bred them to homozygosity, which led to the identification of 1 embry

295 in such populations carry extensive runs of homozygosity, which we show are enriched for novel, rare

296 with increased lose-shift associated with L' homozygosity, while leaving unaffected perseveration aft

297 stimates of homozygosity rates using runs of homozygosity with a 1,000-kb window (correlation = 0.94

298 ABCB4(S320F) homozygosity, with half the normal level of ABCB4, is th

299 explain the unexpected abundance of runs of homozygosity within several populations.

300 parison, cross-population extended haplotype homozygosity (XP-EHH) and cross-population composite lik