ライフサイエンスコーパス: variant

1 individual was confirmed as mosaic for this variant.

2 associated with the presence of a pathogenic variant.

3 as well as short read support for the called variant.

4 Laboratory-confirmed pathogenic variant.

5 of the seven individuals is mosaic for this variant.

6 se patients presented with an infrequent GBS variant.

7 irconia polycrystal) is the most widely used variant.

8 e genes were located near IBD susceptibility variants.

9 ry from DIA data and to query known sequence variants.

10 interacted with oncogenic, hyperactive EGFR variants.

11 wn to be superior to the other tested method variants.

12 s that might histologically mimic meningioma variants.

13 elopability compared with the N297Q or N297A variants.

14 could be attributed to the APOL1 renal risk variants.

15 ined by continuing generation and removal of variants.

16 pic variability of different disease-causing variants.

17 opsychiatric disease-associated genetic risk variants.

18 s, we identified 6502 segregating structural variants.

19 me sequencing was performed to identify gene variants.

20 have identified 18 HbA1c-associated genetic variants.

21 colonized with pneumococci expressing those variants.

22 a useful strategy to identify complex trait variants.

23 tly in its protonated form when bound to the variants.

24 of smoking on risk for IBD depend on genetic variants.

25 total miR-122 in human liver, whereas other variants (23-3A, 23-3U, 21-3U) represented 11-17%.

26 APC c.3920T>A, p.I1307K mutation and a PMS2 variant; 9 patients (18.8%) had double somatic MMR mutat

27 Majority of the variants (93.4%) from six individually sequenced strains

28 Nonunique variants accounted for 122 of 185 (66%) families.

29 causal inference testing, we searched causal variants across eight cardiometabolic traits (BMI, systo

30 n DNA sequencing indicate that cell-specific variants affect a number of phenotypes and pathologies.

31 icity of SNV and indel detection at very low variant allele frequencies.

32 This variant alone explained 14% of the variation in fetuin-A

33 clones display extensive sharing of sequence variants among different portions of the tract and have

34 Of the more than 3,500 SZ-associated variants analyzed, we prioritized approximately 100 puta

35 Isradipine inhibition was splice variant and isoform dependent, with a 5- to 11-fold lowe

36 ncluding AKT3 The novel AKT3 transcriptional variant and methylation changes were confirmed using qRT

37 eters representing the pathogenicity of each variant and the mode of inheritance can be inferred in a

38 the different lesions arising from each Cas9 variant and the resulting repair pathway engagement.

39 e I interferons driven by an autoimmune risk variant and triggered by ligand functions to protect aga

40 me-wide interaction analyses between genetic variants and age, sex, hypertension, and body mass index

41 provides increased power to discover genetic variants and could elucidate shared molecular genetic me

42 with intriguing mechanistic links to histone variants and DNA replication.

43 ation for future identification of causative variants and genes for CAD.

44 sing data demonstrating cosegregation of the variants and incomplete knowledge about the TBK1 functio

45 (AGRP), the first whole-genome catalogue of variants and phased haplotypes in people of Amish and Me

46 rstand the population genetics of structural variants and their effects on phenotypes, we developed a

47 enotypic consequences for disease-associated variants, and test causal inference.

48 The 2 variants annotated to the genes hedgehog interacting pro

49 Genetic variants annotated to the hedgehog interacting protein (

50 Ox40 ligand (Ox40L) locus genetic variants are associated with the risk for systemic lupus

51 Because LBH gene variants are associated with type I diabetes mellitus, s

52 utterites suggest that these rare non-coding variants are likely to mediate their effects on lipid tr

53 cell-type specificity and disease-associated variants are often enriched for CREs in the tissues and

54 Among them, 70 variants are regulatory variants for which the two allel

55 endelian randomization is the use of genetic variants as instrumental variables to estimate causal ef

56 ng the length of DYRK1A with that of natural variants, as found in the ExAC database, confirms that m

57 d a stronger regulatory impact of structural variants, as they affect more transcription factor hubs

58 To identify genetic variants associated with challenge-proven peanut allergy

59 otential to enable identification of genetic variants associated with clinical phenotypes.

60 sfully identify tens of thousands of genetic variants associated with complex traits and diseases.

61 Here, we studied genetic variants associated with human height to assess the degr

62 Many genetic variants associated with sleep disorders are also implic

63 screens, and facilitate the study of genetic variants associated with smaller effect sizes, such as t

64 will increase the power of common- and rare-variant association studies.

65 out to determine the mechanisms underpinning variant association with platelet quantitative traits us

66 ciated with BP regulation, and 1 independent variant at an established BP locus.

67 , we analyzed associations of common genetic variants at the CXCR4 locus with the risk for coronary h

68 challenging to identify than smaller genetic variants but may substantially contribute to phenotypic

69 The Variant Calling Format (VCF) is in a particularly sensit

70 Variant calling is the complex task of separating real p

71 nt is associated with angioedema, and ANGPT1 variants can be the basis of HAE.

72 We discuss how associated genetic variants can lead to understanding causal mechanisms, an

73 This gain-of-function CRY1 variant causes reduced expression of key transcriptional

74 rticipants, panel genetic testing identified variants classified as pathogenic, likely pathogenic, or

75 improves statistical power to identify risk variants compared to statistical methods based on smalle

76 One variant comprised the full extracellular portion of CD23

77 but it is unclear whether individual common variants confer a large risk.

78 UNC-18 variants, created by mutating Ser(311) or Ser(322), disr

79 programming environment for analysis of WGS variant data.

80 ients with primary progressive aphasia (PPA) variants defined by current diagnostic classification.

81 ty at physiologic expression levels suggests variant-dependent intracellular K(+) loss and cytotoxici

82 We investigated whether genetic variants determining amylase gene copies are associated

83 to address all biological questions, as each variant differs markedly in resolution, reproducibility,

84 Additionally, we provide a variant display, which includes population frequency and

85 a 5- to 11-fold lower sensitivity to Cav1.3 variants during SN DA-like pacemaking compared with Cav1

86 hism (SNP) or indel) within a broader set of variants (e.g. all variants or all non-SNPs).

87 A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR

88 ree-standing cylinder (current proportional, variant electrode area), to "convergent" at long time wh

89 Furthermore, we identified splice variants encoding distinct nuclear and cytoplasmic isofo

90 colonic tissue and patients harboring LAMB4 variants exhibited reduced LAMB4 protein levels relative

91 re on-drug relapses, with the CD19(-) escape variant first detected after only 2 treatment courses.

92 ing methods have been proposed to prioritize variants for functional validation.

93 Among them, 70 variants are regulatory variants for which the two alleles confer different regu

94 pensity and moderately destabilized sw ApoMb variants form amyloids, whereas their strongly destabili

95 alization activity against all cocirculating variants from 2004 to 2007.

96 genomic conservation in F. acidiphilum Y(T) variants from geographically distant populations.

97 gical diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting

98 g in relation to the risk for CD (frameshift variant fs1007insC; rs5743293).

99 Fifteen of the associated variants had expression quantitative trait loci in whole

100 signatures indicated that this autoimmunity variant has been evolutionarily advantageous, most likel

101 ctor function, we demonstrate that the N297G variant has better stability and developability compared

102 Ser193Leu) and CFI (Gly119Arg and Leu131Arg) variants have an impaired ability to regulate complement

103 ed bulk properties, while their single-layer variants have become one of the most prominent examples

104 FTO gene variants have been associated with obesity phenotypes in

105 inhibit DA reuptake and multiple DAT coding variants have been reported in patients with neuropsychi

106 Vertebrates have multiple H2A variant histones, including H2AZ and H2AX that are prese

107 We considered 3 aspects of model variants: how to model time to the repeated events (cale

108 Minority variant human immunodeficiency virus type 1 (HIV-1) nonn

109 From these, three single-variants I189H, A282P, D143K were found to be more therm

110 chiatric disorders, we investigated missense variants identified in the intracellular C-terminal doma

111 new independent low-frequency non-synonymous variant in an established heart rate locus (KIAA1755).

112 ation of patients with a presumed pathogenic variant in KCNB1.

113 s also had the pathogenic variant p.Ala13Thr variant in MYL2, a known gene for HCM.

114 We replicated the interaction of a variant in NOD2 with current smoking in relation to the

115 nts were identified: rs10791286, an intronic variant in OPCML (P=9.89 x 10(-6)), and rs7700147, an in

116 ociation of rs61754411, a rare nonsynonymous variant in PTPRO, with emphysema and obstruction was dem

117 s were shown for the rs1440581 PPM1K genetic variant in relation to changes in insulin and HOMA-B (P-

118 ls, which are among the most compositionally variant in the plant kingdom, arise from specialized fat

119 eate scarless isogenic cell models of cancer variants in 1 month.

120 We also identified likely causal missense variants in a gene implicated in primary immune deficien

121 in ESCC linked to alcohol intake and genetic variants in alcohol-metabolizing enzymes.

122 ng and genotyping simple and complex genetic variants in an individual or population'.

123 associations were found for rare functional variants in BBS1, BBS9, GNAS, MKKS, CLOCK and ANGPTL6.

124 s has been made searching for risk-causative variants in candidate genes; therefore, more complex gen

125 allele-preferential expression of functional variants in CGC genes and across the entire dataset.

126 s of patients with RP with likely pathogenic variants in CNGB1.

127 support to the contribution of low-frequency variants in complex traits, demonstrate the advantage of

128 sess the potential role of protein-modifying variants in endometriosis using exome-array genotyping i

129 cing to identify potentially pathogenic gene variants in families in which a person had multiple cong

130 Variants in GDF5 are associated with human arthritis and

131 pendent families having biallelic truncating variants in GLI1 and developmental defects overlapping w

132 and the pathological significance of genetic variants in human cardiovascular diseases.

133 epresent approximately 25% of all structural variants in human genomes.

134 sy samples from 17 patients, we used somatic variants in hypermutable DNA regions to reconstruct high

135 enetic and functional epistasis with allelic variants in IL7R exon 6.

136 Since complement activation and genetic variants in inhibitory complement factor H (CFH) are als

137 nd relapse and the role of inherited genetic variants in leukemogenesis.

138 tinitis pigmentosa associated with biallelic variants in MERTK.

139 loid mutation panels have identified somatic variants in patients with a provisional diagnosis of hyp

140 re-examine the significance of multiple rare variants in patients with hypertrophic cardiomyopathy in

141 Strikingly, E7 was devoid of variants in precancers/cancers compared to higher levels

142 ly summarized genome-wide effects of genetic variants in schizophrenia with significant predictive po

143 Variants in several other genes encoding members of the

144 guished the cases associated with pathogenic variants in specific genes from each other or from those

145 Germline variants in succinate dehydrogenase genes (SDHx) co-occu

146 However, the extent to which variants in the AKT1 gene influence dopamine neurotransm

147 Coding variants in the APOL1 gene are associated with kidney di

148 to reveal the selective accumulation of rare variants in the coding and the UTR sequences within the

149 enetic risk factors for AD, including coding variants in the gene TREM2 (triggering receptor expresse

150 ed cancer risks and pathogenicity of several variants in the Icelandic population.

151 ween the FEV1/FVC ratio and 5 common genetic variants in the identification cohort, and 2 of these as

152 cus centring on a haplotype of nonsynonymous variants in the IGHV4-61 gene segment corresponding to t

153 ctional interpretation of non-coding genetic variants in the molecular genetic dissection of brain di

154 rom the two pools and 72.3% and 97.4% of the variants in the pools could be mined from the analysis o

155 Variants in the SCN2A gene that disrupt the encoded neur

156 ears old carried low levels of heteroplasmic variants in their genomes.

157 ow six genes that have recurrent copy-number variants in three squamous-cell carcinomas (oesophageal,

158 eport 15 individuals with de novo pathogenic variants in WDR26.

159 with different classes of glycan structural variants, including high mannose, sialylated, and termin

160 surfaces and condenses these conformational variants into a uniform population with mean length 178

161 The rs1619661 variant is on chromosome 10, 132 kilobase (kb) downstrea

162 ecause accurate interpretation of pathogenic variants is critical for delivering solid clinical molec

163 enetic similarity with previously identified variants (Kikwit and Mayinga), recent reports suggest sl

164 A third of the TRSs generated sg mRNAs with variant leader-body junction sequences.

165 We found that the CARD8-FS variant led to a truncated CARD8 protein lacking the FII

166 ion studies (GWASs) have identified sequence variants, localized to non-coding genomic regions, assoc

167 ation was the previously reported amino acid variant located at position 71, within the peptide-bindi

168 One of these variants, located within the GPR126 gene, has been previ

169 One bipolar disorder-associated rare variant (M2145T) in TGEF2 impaired inhibition by the TGE

170 Variant matching is complicated by variants that have mu

171 We show that specific structural variants may be causative for quantitative trait loci fo

172 Instead, KCNE2 variants may confer proarrhythmic susceptibility when pr

173 t into the mechanisms of protection of these variants may facilitate the development of new therapies

174 These FYCO1 variants may impair autophagic function, leading to RV f

175 Certain variants may moderate the effect of adverse life events

176 , we hypothesized that certain PCSK9 genetic variants may modify the association between LC n-3 PUFA

177 y of the p.Arg176Trp and p.Ala210Val SLC45A1 variants, measured in transfected COS-7 cells, was appro

178 tive in distinguishing the subset of genetic variants more likely to have functional relevance.

179 We armed MSCs with different oHSV variants (MSC-oHSV) and found that intracarotid administ

180 topic viral integration site 1 (EVI) and its variant myelodysplastic syndrome 1 (MDS)/EVI encode zinc

181 olfactory circuit solves this problem with a variant of a computer science algorithm (called locality

182 A variant of contextual fear conditioning, context pre-exp

183 We also analyze whether this variant of Sweet syndrome is more frequently associated

184 l. introduced the colored de Bruijn graph, a variant of the classic de Bruijn graph, which is aimed a

185 sst5TMD4, a splice variant of the sst5 gene, is overexpressed and associate

186 ge-matched healthy controls (HC) performed a variant of the Stroop task and attention-demanding 4-cho

187 Duplication and triplication of copy number variants of 22q11.2 are consistently and robustly associ

188 These data indicate that variants of activated PC have a stronger affinity for in

189 attributed to the presence of conformational variants of HLA-I on SAB, assessment of which would incr

190 dge to create "pr"- (for primed convertible) variants of most known green-to-red pcFPs.

191 Genetic variants of Neuregulin 1 (NRG1) and its neuronal tyrosin

192 BD is effective in identifying rare genomic variants of potential clinical relevance and also diseas

193 Expression of miss-regulated mutant variants of RabA2 resulted in an increased number of abo

194 ation assay (polyPLA), to identify antigenic variants of subtype H3N2 swine IAVs.

195 between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 x 10(-8); r

196 seminating resistance plasmids, particularly variants of the K. pneumoniae carbapenemase.

197 e have associated the expression of distinct variants of the major surface antigen of the blood stage

198 In this study, we examined allelic variants of the MC4R in cetaceans.

199 l performance checks that compared different variants of the model (e.g. with and without antecedent

200 cle trafficking) are enriched for regulatory variants, of which at least six (35%) alter transcriptio

201 The effect of these common gene variants on cardiac PITX2 mRNA is currently under study.

202 arsenic metabolism with B vitamins and AS3MT variants on diabetes risk.

203 Cysteinyl variants on the alpha3 and L3 regions, which flank the d

204 tion, but by extensive hitchhiking of linked variants on the mimetic dsx haplotype that occurred at t

205 le-genome sequences to examine the effect of variants on the targeting specificity of approximately 3

206 ive GTP-bound RAB11B mutants, we modeled the variants on the three-dimensional protein structure and

207 ) within a broader set of variants (e.g. all variants or all non-SNPs).

208 The siblings also had the pathogenic variant p.Ala13Thr variant in MYL2, a known gene for HCM

209 9.89 x 10(-6)), and rs7700147, an intergenic variant (P=2.93 x 10(-5)).

210 Several motif variant peptides translocate into synthetic vesicles wit

211 for functional studies, developing reference variant-phenotype databases, adopting phenotype descript

212 iously identified, including 9 low-frequency variants pointing to functional candidates.

213 However, we identified 2 or more missense variants predicted to be deleterious in each of 3 genes

214 Such MMAR-based rhodopsin variants present very promising opportunities for furthe

215 ereas those individuals with milder missense variants presented with severe global developmental dela

216 The structures revealed that the RVR and RR variants primarily recognize the PAM-complementary nucle

217 The variant proportion is defined as the fraction of a speci

218 These variants proved to be classifiable by their likely biolo

219 identify enhancer-associated small insertion variants provides a foundation for further study of thes

220 Identified XylR variants (R121C and P363S) have a higher affinity to the

221 A FV variant (R709Q/R1018Q/R1545Q, FV(DeltaIIa)) that cannot

222 The p.H67R variant reduced nuclear entry of p50 and showed decrease

223 This variant reduces the risk of severe malaria by 40% and ha

224 Regulatory properties of the lead risk variant region were analyzed with reporter gene assays.

225 Disease and trait-associated variants represent a tiny minority of all known genetic

226 shing the N-linked glycosylation site; and 2 variants represented the head domain, 1 complete and 1 t

227 [PSI+] variants requiring Arg82p could propagate in ipk1Delta (

228 Although the ZEBOV variant responsible for this epidemic (Makona) shares si

229 e and CVD risk.We determined whether a PCSK9 variant (rs11206510), which has been identified for earl

230 A common variant (rs1619661; coded allele: T) significantly modif

231 ant P-values also for GLRB single-nucleotide variants rs17035816 (P=3.8 x 10(-4)) and rs7688285 (P=7.

232 The RNASET2 variant rs2149092 was predicted to disrupt a consensus b

233 To discern the true causal variant(s), a variety of statistical fine-mapping method

234 the highest versus lowest quartile of a 127-variant score had a 2.49-fold increased odds of cardioem

235 Importantly, this DDX39B variant showed strong genetic and functional epistasis w

236 cing in DONSON due to one of these noncoding variants, showing a causative role for DONSON disruption

237 s) accumulating as fast as single nucleotide variants (SNVs), and elevated amounts of deletions.

238 tigen analyses has been on single nucleotide variants (SNVs), with the contribution of small insertio

239 Variant-specific prior information derived from allele f

240 To date, there are no AR variant-specific treatments for CRPC.

241 complexes purified from D1-N87A and D1-N87D variant strains to probe the function of the D1-Asn(87)

242 ly bind to the androgen receptor (AR) and AR variants, such as AR-V7, at their conserved SET/NAP doma

243 ependent cleavage are lower for DeltaTL RNAP variants, suggesting that the TL contributes to the Gre

244 mune system is a dense coat that comprises a variant surface glycoprotein (VSG).

245 is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene.

246 The SEFL variants tested showed decreased binding affinity to hum

247 sites in MeV-H, we identified a D4 genotype variant that escapes neutralization by MAbs targeting th

248 n the human host; forcing selection of viral variants that escape cellular and antibody (Ab)-mediated

249 Variant matching is complicated by variants that have multiple equivalent representations.

250 her 33 genes not previously investigated for variants that may underlie SUDY pathophysiology.

251 ere we have shown that 3 nonsynonymous ITGAM variants that produce defective CD11b associate with ele

252 developed an approach to mapping structural variants that segregate in a population sequenced at low

253 entrosomin (cnn) expresses two major protein variants: the centrosomal form (CnnC) and a non-centroso

254 sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation ma

255 Therefore, this core and variants thereof may be promising building blocks for th

256 Inspired by nature, we generate a HyaA-R193L variant to disrupt a proposed Arg-His cation-pi interact

257 Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (

258 ion is defined as the fraction of a specific variant type (e.g. single nucleotide polymorphism (SNP)

259 We employed a phage-displayed ubiquitin variant (UbV) library to develop inhibitors targeting th

260 Tsg101 possesses an ubiquitin (Ub) E2 variant (UEV) domain with a pocket that can bind PT/SAP

261 ogated for putative periodontitis-associated variants using existing GWAS data from a German case-con

262 confidence interval: 1.76-4.90), and, repeat variants variable number tandem repeat (VNTR) 4 DRD4 (od

263 that otherwise make detection of these rare variants very difficult.

264 In infants, this same variant was found to be associated with cingulate and pr

265 CD23, including the stalk and head domain; 1 variant was identical with the first, except for an amin

266 rative capacity, a significant effect of the variant was not noted.

267 The enzyme variant was readily identified from a focused library of

268 f directional pleiotropy averaged across all variants was sought using MR-Egger regression.

269 Individuals with common MYOC p.Gln368Ter variant were further analyzed separately to account for

270 These variants were also genotyped in all family members to es

271 Most of the FLNC variants were associated with mild forms of HCM and a re

272 Causal copy-number variants were found in 12 patients (11.9%) with multiple

273 Six novel CLN3 variants were identified in molecular analyses.

274 All variants were identified with massive parallel sequencin

275 A total of 41 different SERAC1 variants were identified, including 20 that have not bee

276 Two notable common variants were identified: rs10791286, an intronic varian

277 l and gene-based testing was undertaken, and variants were investigated with bioinformatics methods.W

278 roup 3 pneumococcal surface protein C (PspC) variants were more likely to be colonized with pneumococ

279 o date suggested that these commonly studied variants were no more associated with the disorder than

280 PCSK9 LOF variants were not associated with stroke risk.

281 These variants were not efficiently detected by antibodies eli

282 interval: 0.60-0.90), whereas the following variants were not statistically significant: rs1947274 L

283 s on processing or trimer stability of these variants were observed, decreased functionality could be

284 ds for NA24385, an individual whose germline variants were well characterized.

285 tance of investigating non-coding regulatory variants when determining risk factors contributing to n

286 All patients with GBS or a GBS variant who presented to the adult neurology department

287 andom mutagenesis, followed by screening for variants whose in vivo folding displays increased or dec

288 This study focuses on ReaChR, a chimeric ChR variant with optimal properties for optogenetic applicat

289 the CGHC active site of PDI, we created PDI variants with a slowed reaction rate toward substrates.

290 fine as G6PD deficiency has multiple allelic variants with different effects in males and females, an

291 IV-1 subtype C and show that carriage of Nef variants with enhanced MHC-B downregulation ability is a

292 ic and mass spectrometry analyses results in variants with greater proteolytic robustness.

293 sulted in the selective enrichment of clonal variants with high ST6Gal-I expression, further substant

294 has revolutionized the ability to associate variants with human diseases, diagnostic rates and devel

295 approach with the goal of identifying trimer variants with improved antigenic and stability propertie

296 To compare the effects of both variants with known inactive GDP- and active GTP-bound R

297 ippo core kinases, thereby establishing MOB1 variants with selective loss-of-interaction.

298 study and identify an association between a variant within a Matrix metalloproteinase (MMP) gene mem

299 Variants within the 20 candidate genes were extracted fr

300 y of Hsp90/Hsc70 inhibitors as well as Hsc70 variants (WT & E175S).