ライフサイエンスコーパス: allelic

1 elopment of HCC was only observed in men (OR(allelic) , 0.75; 95% CI, 0.64-0.87; P = 1.72 x 10(-4) ).

2 m diploid Hi-C data and simultaneously infer allelic 3D structures.

3 Plasmodium falciparum populations indicates allelic adaptation to sympatric vector populations.

4 ies two groups of mango varieties, discovers allelic admixture in commercial varieties, and shows dis

5 ered with India germplasms and demonstrating allelic admixture, and indigenous varieties from Southea

6 A produces enough reads for phylogenetic and allelic analysis at a low cost.

7 Mono-allelic and bi-allelic missense variants localize to con

8 toward phenotypic consequences of disrupting allelic and non-allelic (e.g. pseudogene) sequences have

9 s, this is achieved while circumventing most allelic and non-allelic mutations and chromosomal rearra

10 ells can lose fitness as a result of DSBs at allelic and non-allelic target sites and report that sim

11 found that the SWAI population has distinct allelic architecture compared to populations of European

12 y transgenic assay, independent mutants, and allelic association analyses.

13 motes the multi-faceted HLA expertise beyond allelic associations by providing new functional immunog

14 Also discussed are HLA allelic associations that shed light on the genetic hete

15 function of specific sequences through their allelic associations with gene expression.

16 28882A, and G28883C have emerged with strong allelic associations, forming new subtypes.

17 15L), and A23403G (Spike D614G), with strong allelic associations, has become the dominant type.

18 How allelic asymmetry is generated remains a major unsolved

19 discovered motifs by genome-wide analysis of allelic binding sites.

20 ng early in the disease course and at a high allelic burden.

21 ed ARS-related diseases, individuals with bi-allelic CARS variants are unique in presenting with a br

22 des eluted from 95 HLA-A, -B, -C and -G mono-allelic cell lines.

23 lator of Tsix, a noncoding RNA implicated in allelic choice through X-chromosome pairing.

24 3D structures and provided insights into the allelic chromatin organizations and functions.

25 e similarity is highly correlated with their allelic coexpression levels.

26 otoperiod-insensitive crops by adjusting the allelic combination of these two key genes.

27 The co-expression of GUCY2D allelic combinations linked to CSNB did not restore RetG

28 Mismatched allelic combinations result in extremely strong or weak

29 Pairwise interaction testing of all GI/ZTL allelic combinations shows similar affinities for isogen

30 regation during meiosis while creating novel allelic combinations.

31 rafish lines and bred them to obtain various allelic combinations.

32 n part by oncogenic fitness, and arise in an allelic configuration that reflects context-specific sel

33 volution of mutant cancer genes(7,8) and the allelic context in which they arise is poorly understood

34 On average, we achieved 30%-50% allelic correction in UABCs and bronchial epithelial cel

35 s allows the user to easily trace geographic allelic correlation patterns and examine population-spec

36 topoietic cells to replace their homologous (allelic) counterparts, increasing polygenic drive for bl

37 used by CSF1R deficiency and implied that bi-allelic CSF1R mutations cause a spectrum of neurological

38 als from three unrelated families who had bi-allelic CSF1R mutations.

39 hered a cohort of nine individuals with mono-allelic de novo or inherited variants in KDM4B.

40 s significantly altered by both mutation and allelic deletion in human cancer, but the functional imp

41 Each entry corresponds to an allelic difference at a given gene and its associated ph

42 Our results suggest that the allelic difference controlling grain width under HNT is

43 of trees based on accessory gene content or allelic differences between core genes.

44 lustering algorithm using a threshold of 400 allelic differences between isolates resolved gonococci

45 We test these ideas by identifying allelic differences between supergene variants, characte

46 d that the previously proposed cut-off of 10 allelic differences in cgMLST can be still considered va

47 Allelic differences in the human mu opioid receptor gene

48 sequence typing cluster with no more than 4 allelic differences; these findings showed that polony p

49 duce PAIRADISE (Paired Replicate Analysis of Allelic Differential Splicing Events), a method for dete

50 Our results demonstrate that the allelic differentiation of SLG1 confers indica rice to h

51 he single-nucleotide polymorphism genotyping allelic discrimination method.

52 use this technique to characterize the total allelic diversity (panallelome) of Salmonella enterica,

53 Although allelic diversity at the major histocompatibility comple

54 Further allelic diversity has been generated by recombination-me

55 We detected high allelic diversity in microsatellites, but surprisingly p

56 Allelic diversity in the 45 varieties was found to devia

57 regions and identifying germplasm conserving allelic diversity missing in current breeding programs.

58 s the HLA region and also lower class II HLA allelic diversity than most previously reported populati

59 Exploiting the allelic diversity within available germplasm and leverag

60 s in embryonic stem cells and found that the allelic DNA methylation state is dynamically switching,

61 hm which combines haplotype clusterings with allelic dosages.

62 ity control to account for false alleles and allelic dropout.

63 c consequences of disrupting allelic and non-allelic (e.g. pseudogene) sequences have received scant

64 multiple loci and hPSC lines, achieving mono-allelic editing frequencies of up to 94% at the HBB locu

65 year later, both patients had high levels of allelic editing in bone marrow and blood, increases in f

66 lizing further data, we demonstrate that the allelic effect is highly platelet- and thrombin-specific

67 Together, these data demonstrate that BUBR1 allelic effects beyond protein level and aneuploidy cont

68 e sum of inherited risk alleles, weighted by allelic effects established in an independent population

69 for life span may be maintained by variable allelic effects in heterogeneous environments.

70 hat all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of

71 c variants within these loci showed opposite allelic effects in the two analysed diseases and all of

72 to noncoding genetic variants, by measuring allelic effects on gene expression in the controlled set

73 i and correlate to lead SNPs where they show allelic effects.

74 ronment-specific or antagonistic pleiotropic allelic effects.

75 HS069 was generated (HS069Deltacap) through allelic exchange following natural transformation.

76 etion mutant using the fluorescence-reported allelic exchange mutagenesis (FRAEM) technique and compl

77 Here, employing site-directed mutagenesis, allelic exchange, quantitative PCR analyses, immunoblott

78 ustaining variant surface glycoprotein (VSG) allelic exclusion and antigenic variation in Trypanosoma

79 Thus, TCRbeta allelic exclusion is enforced genetically by the low qua

80 ons regarding a role of IgHR in establishing allelic exclusion requires further exploration.

81 sion of antigen receptor (AgR) genes, called allelic exclusion, is fundamental for highly specific im

82 synchronous rearrangements and essential for allelic exclusion.

83 lele is expressed, a phenomenon known as Igh allelic exclusion.

84 Analyses of allelic expression (AE) profiles identified a pattern of

85 s between supergene variants, characterizing allelic expression across populations, castes and body p

86 Imprinted genes with parental-biased allelic expression are frequently co-regulated and enric

87 ions, castes and body parts, and contrasting allelic expression biases with differences in expression

88 his purpose, we developed the MAXX (Mutation Allelic Expression Extractor) software, which is highly

89 which is highly effective at delineating the allelic expression of both single nucleotide variants an

90 r within an MITE transposon and the enhanced allelic expression of CCD4b in C(30) apocarotenoid-rich

91 In summary, bi-allelic expression of the RyR1 p.A4329D mutation phenoty

92 alyzing the effect of bi-allelic versus mono-allelic expression of the RyR1 p.A4329D mutation.

93 9D mutation phenotypically differs from mono-allelic expression of this mutation in a compound hetero

94 ulation of XIST accompanied with more skewed allelic expression on X chromosome is associated with th

95 We integrate chromosome organization with allelic expression states and chromatin marks, and revea

96 tion caused a milder phenotype than its mono-allelic expression, leading to changes in the biochemica

97 Moreover, the light skin-associated SLC45A2 allelic F374 variant restores only moderate pigmentation

98 n humans, there are two frequently occurring allelic forms of Hp, resulting in three genotypes: Homoz

99 We describe two allelic forms of TaMs5-D, one of which is non-functional

100 genetic signature in 7 of 11,035 trios, with allelic fractions of 5-25%, implying biparental inherita

101 Mono-allelic frameshift and nonsense variants in TET3 occur t

102 factors including population stratification, allelic frequencies and environmental heterogeneity.

103 Assessment of allelic frequencies and LD patterns from a variety of an

104 Based on those variant allelic frequencies grouping, an estimate of genetically

105 ons were found to vary tremendously in their allelic frequencies within the same tumor.

106 ultiple callers and integrates a new variant allelic frequency (VAF) adaptive majority voting approac

107 a male-only population from a 2.5% starting allelic frequency in 10-14 generations, with population

108 east cancer tissues revealed a genotypic and allelic frequency of the R337H variant of 2.36% and 1.18

109 th polygenic risk for SCZ and ASD across the allelic frequency spectrum, and 3) elucidate pathways an

110 ricted to HLA-DR4, -DR9, and -DR11 (combined allelic frequency: 15% in Europeans) and G-DDF restricte

111 01:03/DPB1*02:01 and -DPA1*01:03/DPB1*04:01 (allelic frequency: 55%).

112 als from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and

113 fluorescent marker, allowed us to visualize allelic Gata3 expression in individual cells simply by f

114 In 20,583 pairs of allelic genes, 16.6% and 30.8% exhibited differential ex

115 ccumulation of epicuticular waxes, eight non-allelic glossy mutants were subjected to transcriptomic

116 Using HLA alpha/beta allelic heterodimers, we bioinformatically predicted imm

117 localization, is affected by the presence of allelic heterogeneity, different variants at the same lo

118 loss of power in the presence of wide-spread allelic heterogeneity.

119 mmonest axonal form of CMT, with significant allelic heterogeneity.

120 %), with 4 additional families having single allelic hits in MFRP or PRSS56 (7.5%).

121 Inversion associated allelic homologous recombination (AHR) may well be a com

122 izygous deletion of ~ 3 Mbp occurring by non-allelic homologous recombination (NAHR) mediated by LCR2

123 ous duplications were likely mediated by non-allelic homologous recombination at regions of high sequ

124 letion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeat

125 1.2DS) have a deletion that is caused by non-allelic homologous recombination between two of four low

126 cts with biallelic deletions mediated by non-allelic homologous recombination.

127 equencing studies in 13 families revealed bi-allelic HPDL variants in each of the 17 individuals affe

128 ) profiles identified a pattern of increased allelic imbalance across the entire X chromosome in SLE

129 ly higher somatic copy number aberration and allelic imbalance burdens are identified in metastases.

130 -targeted DNA sequencing and for chromosomal allelic imbalance events by genome-wide genotype array p

131 iving population, aggression is predicted by allelic imbalance favoring the supergene allele.

132 NPs within pG4 UTR sequences, we find robust allelic imbalance in gene expression across diverse tiss

133 By assessing the allelic imbalance in the transcriptomes of 19 F1 hybrid

134 ells, knockdown of XIST specifically altered allelic imbalance patterns between X chromosomes.

135 The resulting allelic imbalance profile is critical for determining wh

136 h DNA damage that can lead to biases such as allelic imbalance, uneven coverage and over representati

137 gene expression by integrating signatures of allelic imbalance.

138 her by copy-number loss or by an unexplained allelic imbalance.

139 oth genetic and epigenetic, that explain the allelic imbalance.

140 variant type in any data that might exhibit allelic imbalance.

141 324 patients with MDS for TP53 mutations and allelic imbalances and delineated two subsets of patient

142 r NAT2 alleles targetable by APA, along with allelic imbalances pointing to LOH, in ~ 24% of tumors.

143 s a rare fatal cystic lung disease due to bi-allelic inactivating mutations in tuberous sclerosis com

144 Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic

145 We report highly efficient and bi-allelic integration frequencies across multiple loci and

146 vel improvement that integrates the relative allelic intensity with external information from empiric

147 We previously demonstrated that these allelic interactions can delay reproductive maturity.

148 SNPs were combined into multi-allelic inverse-variance-weighted fixed or random effect

149 e used CRISPR-mediated deletion to create bi-allelic knockouts of ZFX and/or ZNF711 in female HEK293T

150 in melanosomes than the dark skin-associated allelic L374 variant.

151 e, where PTEN and FOXA1 are downregulated by allelic loss and site-specific DNA hypermethylation, res

152 Bi-allelic loss of function variants in TMC6, TMC8, and CIB

153 Allelic loss of Nkx3.1 caused reduced levels of Nkx3.1 p

154 iated with elevated rates of chromothripsis, allelic loss of PTEN and shorter telomeres.

155 Bi-allelic loss-of-function mutations in genes required for

156 Taken together, our results implicate bi-allelic loss-of-function NUP188 variants in a recessive

157 al and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented

158 Bi-allelic loss-of-function variants in genes that encode s

159 Genomic analysis revealed bi-allelic loss-of-function variants in SMPD4, coding for t

160 a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX)-r

161 Here, we report bi-allelic loss-of-function variations in SMO in seven indi

162 blocking the proneoplastic effects of Nkx3.1 allelic loss.

163 Two probands carried bi-allelic LRP5 variants, both presenting with bilateral re

164 Specifically, allelic mapping of the transcriptome and epigenome in Sm

165 rect targets for functional investigation or allelic mining.

166 Mono-allelic and bi-allelic missense variants localize to conserved residues

167 sis during embryogenesis, and NADSYN1 has bi-allelic missense variants that cause NAD deficiency-depe

168 encode small secreted proteins recognized by allelic MLA7, MLA9, MLA10, and MLA22 receptors, respecti

169 SNPs were combined into multi-allelic models and mendelian randomization estimates rep

170 ved while circumventing most allelic and non-allelic mutations and chromosomal rearrangements charact

171 and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1)

172 sinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11.

173 le 19%-41% of affected individuals harbor bi-allelic mutations in IL36RN, the genetic cause is not kn

174 We conclude that de novo and bi-allelic mutations in NARS1 are a significant cause of ne

175 ck-out human background demonstrated that bi-allelic mutations mimic engineered deletion deficits whi

176 Given genetic data indicating that bi-allelic null U8 alleles are likely incompatible with hum

177 ee T1 plants, with 33% of them containing bi-allelic or homozygous mutations in both genes.

178 We link pairing to allelic partitioning of CCCTC-binding factor (CTCF) and

179 We report bi-allelic pathogenic HPDL variants as a cause of a progres

180 We identified bi-allelic pathogenic KDELR2 variants as a cause of OI in f

181 We report bi-allelic pathogenic variants in HS2ST1 in four individual

182 l diagnosis of Leigh syndrome, who harbor bi-allelic pathogenic variants in NDUFAF8.

183 PAH variants were scored using an allelic phenotype value and correlated with pre-treatmen

184 Consistent with these roles of PIC30, three allelic pic30 mutants are selectively insensitive to pic

185 nine unrelated families with 10 different bi-allelic PIGK variants.

186 This pattern of vast allelic polymorphism raises several questions-How do dif

187 We investigated KIR-allelic polymorphism to interrogate the role of NK cells

188 The rapid evolution of allelic polymorphism, accumulated by point mutations, wa

189 t many peptides, through multigene families, allelic polymorphism, and peptide-binding promiscuity.

190 As in other countries, the 1.3.1 allelic profile (ie, SS14-like) was the most common.

191 In addition, 1 of the newly described allelic profiles represents T. pallidum strains that aro

192 lar AML with a high (>=0.5) mutant/wild-type allelic ratio (AR).

193 absent (FLT3-ITD(neg)) or present with a low allelic ratio (FLT3-ITD(low)).

194 all pediatric patients with AML without high allelic ratio FLT3/ITD treated in the Children's Oncolog

195 models and the outbred human population and allelic receptor variants not present in mice; however,

196 The latter suggests ongoing allelic replacement of functionally relevant amino acid

197 ion of this point mutation using CRISPr-Cas9 allelic replacement was sufficient to confer actinonin r

198 Using vg leads to a balanced allelic representation at polymorphic sites, effectively

199 der effects: heterozygosity (He = 0.667) and allelic richness (Ar = 4.298) were similar, and F(ST) wa

200 likely to have been strong enough to deplete allelic richness by more than around 15%.

201 dicate a previous population bottleneck; (4) Allelic richness was lower among cultured populations th

202 Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individual

203 probing of low-abundance interactions and an allelic RNA-depletion and -tagging system.

204 In particular, the bi-allelic RyR1 p.A4329D mutation caused a milder phenotype

205 tide polymorphisms (combined into a weighted allelic score) were used to yield genetic instrumental v

206 icant correlation between susceptibility and allelic scores based on 16 independent candidemia-associ

207 igurations at metaphase I, and in turn alter allelic segregation ratios through double reduction.

208 ar, we show that great apes have patterns of allelic selection that vary in intensity-a feature that

209 Therefore, we analysed the allelic sequence variation in three Sub1 genes in a pane

210 M. truncatula Jemalong A17 genotype a mutant allelic series affecting the Compact Root Architecture2

211 he value of using CRISPR/Cas9 to generate an allelic series and intermediate phenotypes for functiona

212 amine domains in disease, we utilized a new, allelic series of Drosophila melanogaster.

213 We identified an allelic series of fertile, hypomorphic Arabidopsis (Arab

214 Here, we report an allelic series of germline recessive mutations in UGDH i

215 perativity in the brain of HD knock-in mice (allelic series of Hdh mice).

216 l analysis, in vitro differentiation, and an allelic series of human IRF8 deficiency, we demonstrated

217 To address this question, we generated allelic series of knock-in Fgfr1 and Fgfr2 mouse strains

218 These comprise fresh insights in allelic series of matching pairs of resistance and aviru

219 t were genome-edited via CRISPR to create an allelic series of TPM1 and VCL variants revealed that ca

220 itous, frequently constitute a heterogeneous allelic series, and can act as rare alleles of large eff

221 association mapping (NAM) can further assess allelic series.

222 The allelic shift signal measures the loss-of-heterozygosity

223 ultiscale smoothing of expression signal and allelic shift signals for CNV calling.

224 This leads us to hypothesize that allelic silencing may be a way to overcome intergenomic

225 to co-analyze host and symbionts based on bi-allelic single nucleotide polymorphisms (SNP) markers id

226 With the increasing sample sizes, more multi-allelic sites are expected to be observed.

227 clinically meaningful variants across a wide allelic spectrum of human variation.

228 spectrum disorder (ASD) is itself a diverse allelic spectrum that consists of rare de novo or inheri

229 biological and clinical implications of TP53 allelic state have not been fully investigated in MDS or

230 This study shows that consideration of TP53 allelic state is critical for diagnostic and prognostic

231 tness as a result of DSBs at allelic and non-allelic target sites and report that simultaneous single

232 at the nNILs can be used for QTL mapping and allelic testing.

233 The pen4 mutant, which is allelic to cadmium insensitive1 (cad1/pcs1) mutants, was

234 functional variants from 14 loci displaying allelic transcriptional activity, a subset of which corr

235 cies of Streptococcus The resulting gene and allelic trees provide an unprecedented overview of the g

236 milarly to the LWS polymorphism that confers allelic trichromacy in some primates.

237 We present six affected individuals with bi-allelic truncating variants in NUP188 and strikingly sim

238 ectin domain of SP-A2 that contain the major allelic variant (223Q) maintain activity in reducing TNF

239 of melanosome maturation, and that a common allelic variant imparts reduced activity due to protein

240 corresponding to each of the three P. vivax allelic variants (VK210, VK247 and P. vivax-like) and of

241 ge on serological response to distinct PvCSP allelic variants and may contribute to the development o

242 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification

243 al phenotype and becomes stabilized when key allelic variants are driven to fixation.

244 o identify pneumococcal lineages, genes, and allelic variants associated with 23 clinical IPD phenoty

245 We identified allelic variants associated with each lineage.

246 To test the hypothesis, allelic variants at the SD1-2, 7-1, 7-2, and 12 loci fro

247 GWAS-based searches for cancer predisposing allelic variants can be enhanced by including defined so

248 es in peptide repertoires binding to the two allelic variants have been reported.

249 Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in

250 type to chromosome 21q21.3 and identified bi-allelic variants in JAM2.

251 re similar phenotypes with disease-causal bi-allelic variants in NADSYN1, encoding NAD synthetase 1,

252 t six individuals from four families with bi-allelic variants in NRROS.

253 Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activa

254 There are 2 allelic variants in the elk prion protein gene: L132 (le

255 xome sequencing (WES), we here discovered bi-allelic variants in the formin DAAM2 in four unrelated f

256 We identified six allelic variants in the Mtor promoter region in BALB/cAn

257 izzard syndrome (JBS), which is caused by bi-allelic variants in UBR1, notably by the presence of epi

258 dism, and genital anomalies, we uncovered bi-allelic variants in UBR7.

259 We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset p

260 each SNP, allowing for the identification of allelic variants of genes.

261 ablished two mouse strains carrying distinct allelic variants of H2-A and analyzed thymic and periphe

262 Importantly, allelic variants of PROKR2 in humans are associated with

263 Our findings raise the possibility that allelic variants of the BCL-2 pathway could influence th

264 Rover and sitter allelic variants of the Drosophila foraging (for) gene d

265 e mechanisms underlying the effect of PROKR2 allelic variants on CHH.

266 nes in situ and assess the effect of defined allelic variants on mammary tumorigenesis.

267 tein reconstruction, we demonstrate that two allelic variants segregating as distinct receptor-ligand

268 This systems genetics study reveals multiple allelic variants segregating at intermediate frequency i

269 ia and found that each of the resultant hsdS allelic variants specifies methylation of a unique DNA s

270 er the function of a gene fixed in wheat for allelic variants targeted by domestication selection and

271 during epidemics, exhibits a combination of allelic variants that could be associated with its epide

272 Jek1 and Jek3 allelic variants were almost equally distributed in a co

273 es in frequencies of one or more constituent allelic variants within the network leads to changes in

274 Differently of PvCSP allelic variants, antibodies elicited against C-terminal

275 subjects, it is difficult to identify unique allelic variants, gene modifiers, and epigenetic factors

276 of pre-existing genetic networks composed of allelic variants.

277 umbers are significantly affected by natural allelic variants.

278 nteraction (n = 115,865; p = 0.0007) between allelic variation (GG or CA genotypes) in the highly con

279 9 QTL for height and disease resistance with allelic variation across donors.

280 mental pathways that characterize concordant allelic variation and adulthood synaptic pruning pathway

281 , we found three additional families with bi-allelic variation and similarly affected phenotypes incl

282 association could be found between the Sub1 allelic variation and submergence tolerance probably due

283 The allelic variation found among the genes involved in many

284 ibosomal diseases, related to a heterozygous allelic variation in 1 of the 20 ribosomal protein genes

285 cally interspersed conspecific plants due to allelic variation in a linalool synthase, and that the r

286 Allelic variation in CHRNA3, the gene encoding the alpha

287 ases in human smokers.SIGNIFICANCE STATEMENT Allelic variation in CHRNA3, which encodes the alpha3 ni

288 The identification of allelic variation in REC8 in combination with the observ

289 generate an atlas of CRMs showing predicted allelic variation in TF binding affinity in human lympho

290 We also show that natural allelic variation in the DOG1 promoter affects bZIP67-de

291 Next, we examined the allelic variation in the four flowering-time genes acros

292 After controlling for the allelic variation of the Adh and delta-1 loci, we found

293 Furthermore, the study of natural allelic variation of the ENO locus proved that a cis-reg

294 t pathogen already has a large collection of allelic variation that must be considered when designing

295 , our results provide insights into how ERF4 allelic variation underlies an important fruit quality t

296 Studies of allelic variation underlying genetic blood disorders hav

297 In addition to allelic variation, abundant orthologous and species-spec

298 tisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype kno

299 n, transcriptome analysis revealed that hsdS allelic variations in Enterococcus faecalis exert signif

300 ntly generated by analyzing the effect of bi-allelic versus mono-allelic expression of the RyR1 p.A43