ライフサイエンスコーパス: homozygosity

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

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

3 raction of the genome that comprises runs of homozygosity.

4 for studying the consequences of mutant JAK2 homozygosity.

5 pe in patients as a consequence of JAK2V617F homozygosity.

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

7 es protein truncation, was never observed in homozygosity.

8 igh local frequencies and extended haplotype homozygosity.

9 tical for generating fine-scale variation in homozygosity.

10 hanisms to convert heterozygous genotypes to homozygosity(1-4).

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 a genome wide-association study and runs of homozygosity analysis, of a case-control cohort of Austr

14 examination, and exome sequencing guided by homozygosity analysis.

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

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

17 putational tools aimed at estimating runs of homozygosity and genome-wide heterozygosity levels are g

18 and 60 deaths, but the associations between homozygosity and hepatic malignancy (HR, 2.1 [95% CI, 0.

19 rican group showed a high degree of both HLA homozygosity and linkage disequilibrium across the HLA r

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

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

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

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

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

25 of the NF1 gene was frequently converted to homozygosity and the somatic mutational load of NF1-glio

26 of patients with CF; male sex, CFTR F508del homozygosity, and history of meconium ileus are independ

27 and severe CFLD were male sex, CFTR F508del homozygosity, and history of meconium ileus.

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

29 transition from heterozygosity (ApcMin/+) to homozygosity (ApcMin/Min) to drive tumour formation.

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

31 merican populations, but also that tracts of homozygosity are rarely shared among these populations,

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 isease (sCJD) VV1-2 type-mixed cases (valine homozygosity at codon 129 of the prion protein, PrP, gen

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

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

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

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

39 ith previous data from sCJDMM1-2 (methionine homozygosity at PrP gene codon 129) establishes the type

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

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

42 cifically, ROHan can delineate large runs of homozygosity (at megabase scales) and produce a reliable

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

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 tral American individuals has long tracts of homozygosity despite recent outbreeding.

47 e implementations called CHERIPIC (Computing Homozygosity Enriched Regions In genomes to Prioritise I

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

49 Turkish people, we found extended haplotype homozygosity flanking FMF-associated mutations, indicati

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

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

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

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

54 Homozygosity for a hypomorphic acd allele preserved the

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

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

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

58 with a severe germline VHL deficiency due to homozygosity for a novel synonymous mutation (c.222C->A,

59 Homozygosity for a null allele caused embryonic death, b

60 Homozygosity for a recurrent 290 kb deletion of NPHP1 is

61 Homozygosity for a sequence variant causing Y402H and I6

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

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

64 Homozygosity for an N-terminal truncation ablates expres

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

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

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

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

69 th heterozygous loss of foxc1a combined with homozygosity for foxc1b (foxc1a+/-;foxc1b-/-) demonstrat

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

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

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

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

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

75 remained largely similar to wild-type cells, homozygosity for PIK3CA (H1047R) caused widespread, canc

76 Homozygosity for pLoF mutations at PLA2G7 was associated

77 Homozygosity for STAT2 R148Q represents a novel molecula

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

79 Homozygosity for the C variant of the T-786C single-nucl

80 ently reported a high level of enrichment in homozygosity for the common TYK2 P1104A variant in a het

81 Homozygosity for the epsilon4 allele is the major geneti

82 11 deletion alleles recovered in this study, homozygosity for the Gdf11(WE) allele did not phenocopy

83 Homozygosity for the genetrap allele was embryonic letha

84 Homozygosity for the highly prevalent ATG16L1 risk allel

85 thelial lymphocyte cells followed by age and homozygosity for the HLA DQB1*02.

86 Homozygosity for the HLA-Bw4 allele was strongly associa

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

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

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

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

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

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

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

94 Homozygosity for the Pi*Z variant of the gene that encod

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

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

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

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

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

100 These findings suggest that homozygosity for TYK2 P1104A may account for ~1% of TB c

101 ed in EOC independent of the haplotype, (ii) homozygosity for UTR-1 or UTR-2 genotypes were significa

102 Additionally, large runs of homozygosity found in the genomes of particularly inbred

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

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

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

106 HFE C282Y homozygosity had the most marked independent association

107 Homozygosity has long been associated with rare, often d

108 Crossover remodeling at homozygosity-heterozygosity junctions requires interfere

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

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

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

112 or to admixture, based on extended haplotype homozygosity in African populations.

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

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

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

116 Male sterility was, in general, unrelated to homozygosity in any region of the Z, but there was an ex

117 mericans, elevated levels of relatedness and homozygosity in Asian immigrants, and fine-scale structu

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

119 Moreover, all NOS2 variants that we found in homozygosity in public databases encoded functional prot

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

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

122 Enriched homozygosity in the Parsi reflects their recent isolatio

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

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

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

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

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

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

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

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

131 Genome-wide homozygosity mapping (HM), based on DNA polymorphism, ha

132 Finally, homozygosity mapping analyses in 15 families including a

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

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

135 Using homozygosity mapping and direct sequencing in a multiple

136 Combined homozygosity mapping and exome sequencing identified a b

137 Homozygosity mapping and exome sequencing identified a s

138 Homozygosity mapping and exome sequencing in a large, co

139 Homozygosity mapping and exome sequencing revealed a nov

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

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

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

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

144 Through a combination of homozygosity mapping and exome sequencing, we mapped thi

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

146 Genetic analyses included homozygosity mapping and exome sequencing.

147 Homozygosity mapping and linkage analysis identified a c

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

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

150 Homozygosity mapping and Sanger sequencing confirmed tha

151 Genetic analysis was performed using homozygosity mapping and sequencing.

152 In 1 patient, homozygosity mapping and subsequent segregation analysis

153 Homozygosity mapping and WES in the only other reported

154 Using homozygosity mapping and WES, we identified the causativ

155 Homozygosity mapping and whole exome sequencing (WES) we

156 Single nucleotide polymorphism homozygosity mapping and whole exome sequencing identifi

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

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

159 By homozygosity mapping and whole exome sequencing, we here

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

161 Using homozygosity mapping and whole-exome and candidate gene

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

163 ntify genes mutated in NPHP-RC, we performed homozygosity mapping and whole-exome sequencing for >100

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

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

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

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

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

169 Homozygosity mapping and whole-exome sequencing in an IO

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

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

172 Homozygosity mapping and whole-exome sequencing were con

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

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

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

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

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

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

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

180 Homozygosity mapping by whole genome de novo assembly al

181 Homozygosity mapping combined with exome sequencing was

182 Linkage analysis and homozygosity mapping combined with exome sequencing were

183 We used homozygosity mapping combined with next-generation seque

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

185 GWAS, linkage analysis and homozygosity mapping defined a 26-Mb candidate region in

186 Using homozygosity mapping followed by exome sequencing, we id

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

188 Homozygosity mapping followed by whole-exome sequencing

189 Homozygosity mapping followed by whole-exome sequencing

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

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

192 By combining homozygosity mapping in Finnish families with Sanger seq

193 Using homozygosity mapping in the family and exome sequencing

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

195 Homozygosity mapping localized the disease locus to a re

196 Whole-exome sequencing and homozygosity mapping of multiple family members, coupled

197 Through homozygosity mapping of the affected individuals followe

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

199 Homozygosity mapping revealed two candidate genes, SAMD7

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

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

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

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

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

205 Three families underwent homozygosity mapping using SNP arrays.

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

207 Genomewide homozygosity mapping was used to identify a candidate re

208 Homozygosity mapping was used to identify potential defe

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

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

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

212 We performed whole-exome sequencing, homozygosity mapping, and chromosomal microarray studies

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

214 We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel

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

216 me sequencing (WES), SNP-array and WES-based homozygosity mapping, as well as directed DNA sequencing

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

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

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

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

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

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

223 mplementing traditional linkage analysis and homozygosity mapping.

224 the opportunity to perform genome-wide dense homozygosity mapping.

225 When bred to homozygosity, most of these alleles recapitulated skelet

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

227 -gene-destructive, GATIR mice can be bred to homozygosity, not feasible with previously published str

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

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

230 h CD, with HLA-DQ genetics showing increased homozygosity of HLA-DQ2.5 (p = 0.03) and HLA-DQ8 (p = 0.

231 Homozygosity of p.Ser267Phe in SLC10A1 is associated wit

232 ased rates of infant mortality and increased homozygosity of putatively deleterious alleles in inbred

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

234 979860 and rs8099917 revealed a link between homozygosity of the minor alleles (TT and GG, respective

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

236 MD as a possible mechanism for achieving the homozygosity of VCP mutant responsible for the resistanc

237 Homozygosity of Z chromosome blocks was produced by daug

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

239 at these children shared a 4.76 Mb region of homozygosity on chromosome 1, with an identical haplotyp

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

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

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

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

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

245 868 cases and 1194 controls to detect excess homozygosity or deletion variants that influence suscept

246 A heterozygosity, or for TYK2 I684S or V362F homozygosity or heterozygosity.

247 In conclusion, we generated baselines for homozygosity patterns in diverse Chinese cattle breeds.

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

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

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

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

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

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

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

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

256 higher population inbreeding and individual homozygosity, respectively, suggesting that increased ar

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

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

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

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

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

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

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

264 udy, we identified a total of 27,358 runs of homozygosity (ROH) with an average of 153 ROH events per

265 These changes are associated with runs of homozygosity (ROH), but not with common variant homozygo

266 ments identical-by-descent (IBD) and runs of homozygosity (ROH), we identified 675 instances of UPD a

267 ping arrays include polygenic score, runs of homozygosity (ROH)/heterozygosity ratio, distant pedigre

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

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

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

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

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

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

274 morphism (SNP) arrays can be used to explore homozygosity segments, where two haplotypes inherited fr

275 ly members and identified a single region of homozygosity shared amongst four affected individuals on

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 ozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associate

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

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

281 Among men with HFE p.C282Y homozygosity, there was a significantly increased risk o

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

283 her types of genomic changes, e.g. tracts of homozygosity (TOH), repetitive elements, and insertion/d

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

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

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

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

288 56del did not confer additive protection and homozygosity was associated with an elevated risk of sev

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

290 Homozygosity was associated with earlier age at onset of

291 1 insertions; significant extended haplotype homozygosity was detected around several L1 insertions.

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

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

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

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

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

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

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

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

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