ライフサイエンスコーパス: sequence variant

1 ome library from DIA data and to query known sequence variants.

2 6 kb of ABCA4 and did not contain other rare sequence variants.

3 all transcripts having nonsynonymous coding sequence variants.

4 l consequences of both coding and non-coding sequence variants.

5 h non-syndromic CL/P and CP, but observed no sequence variants.

6 map the activity of millions of glycosidase sequence variants.

7 n-Watson-Crick basepairs are used in scoring sequence variants.

8 dentification and characterization of CYP1B1 sequence variants.

9 in the congenic region and contained several sequence variants.

10 nger negative selection pressure than common sequence variants.

11 10 uncharacterized UL54 viral DNA polymerase sequence variants.

12 uantify the efficiency of a large library of sequence variants.

13 ecifically for reporting clinically relevant sequence variants.

14 myloid state that supports comparisons among sequence variants.

15 nce state changes at a much higher rate than sequence variants.

16 s of protein abundance for over 2,000 unique sequence variants.

17 measured expression variability in held-out sequence variants.

18 ic and/or intergenomic recombination between sequence variants.

19 ificantly between cases with and without GBA sequence variants.

20 ecifically for reporting clinically relevant sequence variants.

21 hronic infection phase and rarely select for sequence variants.

22 probes designed to target unique paralogous sequence variants.

23 striking enrichments for disease-associated sequence variants.

24 plotype accompanied by rare, highly-similar, sequence variants.

25 tion, and potential identification of causal sequence variants.

26 ustom pipelines for annotating and analyzing sequence variants.

27 anges in gene structure that may result from sequence variants.

28 s in altered expression of specific 45S rDNA sequence variants.

29 fic cell type and how this may be changed by sequence variants.

30 l PAS is disrupted within certain alleles by sequence variants.

31 ,886 genes whose expression differs with the sequence variants.

32 ific functions and harbor disease-associated sequence variants.

33 me to interpret the clinical significance of sequence variants.

34 ier (trace) detection of rare drug-resistant sequence variants.

35 for NSCL/P is conferred by unidentified rare sequence variants.

36 haplotype lacking other disease-causing rare sequence variants.

37 due in part to evaluating a limited panel of sequence variants.

38 Participants were genotyped for 247 870 DNA sequence variants (231 539 in exons) across the genome.

39 Seventy-six variants (40 sequence variants, 32 common HapMap tag single nucleotid

40 refore, a rare putatively causal human DISC1 sequence variant, 37W, impairs the ability of DISC1 to p

41 etected in 79 (61 missense and 18 truncating sequence variants), 63 being monoallelic.

42 otype >200,000 low-frequency and rare coding sequence variants across the genome in 56,538 individual

43 It is unclear how these noncoding sequence variants affect multiple erythrocyte characteri

44 Sequence variants affecting blood lipids and coronary ar

45 developed to help plant geneticists identify sequence variants affecting important agricultural trait

46 ulated metabolic pathways contain genes with sequence variants affecting side effect incidence, play

47 ermination of the functional consequences of sequence variant alleles offers potential insight as to

48 g between allelic and paralogous (gene copy) sequence variants, allowing identification of SNPs in or

49 GI tract clones display extensive sharing of sequence variants among different portions of the tract

50 is technique primarily used to differentiate sequence variants among only a few short amplicons.

51 abase for visualization and investigation of sequence variants among these widely used inbred lines.

52 rding to the individuals that are carrying a sequence variant and subsequently identify small subnetw

53 l method MutaBind to evaluate the effects of sequence variants and disease mutations on protein inter

54 ealth and welfare by providing the annotated sequence variants and genotypes of key ancestor bulls.

55 features, predicted structural impacts from sequence variants and minimum free energy structural pre

56 al aspects of prions (such as PrP amino acid sequence variants and PrP conformational state), determi

57 ction in these evolved regulatory and coding sequence variants and showed that modulating RCO activit

58 d a genetic association between rare RNASEH2 sequence variants and SLE.

59 hat may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with ot

60 The effects of sequence variants and the presence of an epistatic inter

61 to hypothesize specific molecular effects of sequence variants and to statistically associate these e

62 es including direct editing of the reference sequence, variant and error detection, display of annota

63 ariants and 123,935 putatively neutral exome sequencing variants and 0.027-0.143 higher in an indepen

64 RP were completely screened for TRNT1 coding sequence variants, and a second family was identified wi

65 r confirming amino acid sequences, assessing sequence variants, and characterizing post translational

66 he association with gene expression, genetic sequence variants, and clinical outcomes.

67 ilk production and curly coat, using imputed sequence variants, and identified variants associated wi

68 l attributes such as amino acid composition, sequence variants, and post-translational modifications

69 ability to generate mgpB and mgpC phase and sequence variants, and these deficiencies could be compl

70 NA editing and alternative splicing generate sequence variants, and those variants, as in GluA2-4 AMP

71 ulate objective metrics of pathogenicity for sequence variants, and to identify genes subject to stro

72 tion segregating for approximately 5 million sequence variants, and we compare our results to those e

73 c carboxyl-terminal KDEL motif, a variety of sequence variants are also capable of receptor binding t

74 ntly identified 68 genomic loci where common sequence variants are associated with platelet count and

75 nt of sequencing technologies, more and more sequence variants are available for investigation.

76 dence that the phenotypic effects of genomic sequence variants are best understood in terms of varian

77 e show that genes implicated through de novo sequence variants are biased in their coding-sequence le

78 Biological sequence variants are commonly represented in scientific

79 Subsequently, 16 sequence variants are followed up in a diverticular dise

80 Several sequence variants are known to have effects on serum lev

81 le size across communities, and because rare sequence variants are less likely to be selected during

82 aining multiple samples for the detection of sequence variants as a cost saving measure.

83 ent advances in genome-wide screening of DNA sequence variants as well as focussed genetic studies id

84 However, many sequence variants associated with complex traits in maiz

85 ation and functional characterization of DNA sequence variants associated with disease.

86 d regions of open chromatin were enriched in sequence variants associated with hematological indices.

87 Here, we test the hypothesis that CETP DNA sequence variants associated with higher HDL-C also incr

88 thesized that prostacyclin synthase promoter sequence variants associated with increased mRNA express

89 rmodynamic and topological investigations of sequence variants associated with the RA motif in both m

90 We find that sequence variants associated with type 2 diabetes and fa

91 We identify sequence variants associating with kidney stones at ALPL

92 and therefore limited to studying only a few sequence variants at a time.

93 Additionally, we classify sequence variants at an order of magnitude lower coverag

94 value between zero and one to each candidate sequence variant based on six criteria.

95 me, individuals carrying the same causal DNA sequence variant but on different backgrounds can be cla

96 te constants for reactions of individual RNA sequence variants by fitting changes in substrate or pro

97 age have precluded the detection of rare DNA sequence variants by NGS.

98 members were heterozygous for a novel COL4A1 sequence variant c.4881C>G (p.Asn1627Lys) predicted to b

99 A non-synonymous coding sequence variant (c.2 T > C; p.1Met?) found in VDR is an

100 hom we detected compound heterozygous CLDN10 sequence variants [c.446C>G (p.(Pro149Arg) and c.217G>A

101 encing revealed compound heterozygous CLDN10 sequence variants [c.446C>G (p.Pro149Arg) and c.465-1G>A

102 ly reported children homozygous for two MC3R sequence variants (C17A+G241A) have greater fat mass tha

103 ion identification, alternative splicing and sequence variant calling.

104 of these findings is needed before the Kozak sequence variant can be accepted as a potential marker f

105 Most sequence variants can be coupled in good yields with eit

106 s demonstrate that whole-exome imputation of sequence variants can identify low-frequency variants an

107 ely 40% of quantitative trait loci, a single sequence variant cannot account for the phenotypic effec

108 merulopathy," no data prove that these APOL1 sequence variants cause glomerulosclerosis.

109 Homozygosity for a sequence variant causing Y402H and I62V substitutions in

110 egregated with a homozygous loss-of-function sequence variant, causing the substitution of leucine at

111 Putative deleterious sequence variants co-segregating with TD patients were i

112 Nevertheless, DNA sequence variants co-segregating with TD phenotypes with

113 evels at thousands of synthetically designed sequence variants comprising either the sequences surrou

114 We identified 18 sequence variants, comprising 2 not previously described

115 itful, lead to the identification of natural sequence variants contributing to lifespan variation, an

116 ough DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 7

117 Using a genetic model, sequence variant data can be generated either conditiona

118 m field (CRF) for extracting a wide range of sequence variants described at protein, DNA and RNA leve

119 n (GWAS) of endometriosis using 25.5 million sequence variants detected through whole-genome sequenci

120 enome-wide association study of 28.3 million sequence variants detected through whole-genome sequenci

121 Newly phenotyped UL54 sequence variants did not significantly change the repor

122 rus replication to recognize all clade B Gag sequence variants encoded by at least 5% of the sequence

123 significantly amplifies the effect of three sequence variants (encoding PNPLA3 p.I148M, TM6SF2 p.E16

124 xperimental models relying on artificial DNA sequence variants engineered in the laboratory.

125 Prostacyclin synthase promoter sequence variants exhibit a range of transcriptional act

126 Although many methods are available to test sequence variants for association with complex diseases

127 Biobank testing approximately 9 million DNA sequence variants for association with coronary artery d

128 In addition, we imputed sequence variants for MICA, an MHC HLA-like gene that ha

129 have successfully identified disease-causing sequence variants for several rare monogenic diseases by

130 another indicator of potentially actionable sequence variants for targeted therapy.

131 mation and a statistical summary of distinct sequence variants found.

132 f per-base values such as read abundance and sequence variant frequency.

133 The extraction of sequence variants from the literature remains an importa

134 uidelines for distinguishing disease-causing sequence variants from the many potentially functional v

135 ing (RNA-seq) to enable detection of protein sequence variants from the proteomic data.

136 ation signals to their underlying functional sequence variants (FSV).

137 APOL1 harbors C-terminal sequence variants (G1 and G2), which account for much of

138 We showed that large-scale sequence variants had extremely high concordance with al

139 he functional and mechanistic roles of these sequence variants has proven challenging.

140 A number of common sequence variants have been found to associate with seru

141 More than 610 fHbp amino acid sequence variants have been identified, which can be cla

142 Recent studies of rare structural and sequence variants have identified hundreds of loci invol

143 ologies are useful for the identification of sequence variants; however, electrophysiological testing

144 proximately 2,600 individual DNAs for myomiR sequence variants identified a rare mutation of miR-499,

145 establish functional causality for noncoding sequence variants identified by GWASs.

146 The clinical classification of hereditary sequence variants identified in disease-related genes di

147 Here, we test 32.4 million sequence variants identified through whole-genome sequen

148 Understanding the link between non-coding sequence variants, identified in genome-wide association

149 t 14% of CpG sites is associated with nearby sequence variants; (iii) 22% and 3% of the autosomal CpG

150 ee new studies have identified new genes and sequence variants implicated in blood lipids, inflammato

151 patients shows that a potentially pathogenic sequence variant in CYP2R1 may cause VKH in a subset of

152 A schizophrenia-associated rare sequence variant in TGEF1 (F1538Intron) was substantiall

153 ted human hyperekplexia patients revealed 20 sequence variants in 17 index cases presenting with homo

154 Sequence variants in 3 genes are associated with the dev

155 enced its 2-kb promoter region and exons for sequence variants in 32 subjects.

156 Focusing our analysis on coding sequence variants in 63 genes with preferential kidney e

157 nslational modifications, and three types of sequence variants in a previously uncharacterized non-mA

158 try-based approach to broadly screen for DNA sequence variants in archived, clinical-grade tumor spec

159 uss the landscape of inherited mutations and sequence variants in BRCA1 and BRCA2, the complexities o

160 ining the functional relevance of identified sequence variants in cancer is a prerequisite to ultimat

161 Sequence variants in CCCTC-binding factor (CTCF) and tra

162 an imputation approach we searched for rare sequence variants in CHRNA4 and tested them for associat

163 Common sequence variants in cis-regulatory elements (CREs) are

164 Among these, sequence variants in Cox7a2l alter its protein's activit

165 Exome sequencing revealed deleterious sequence variants in Crumbs, Drosophila, Homolog of, 2 (

166 Unrecognized sequence variants in diagnostic genotyping reports shoul

167 Sequence variants in DSP are associated with IPF, and rs

168 A greater number of sequence variants in genes from the tyrosine kinase rece

169 The presence of splicing sequence variants in genes responsible for sex developme

170 Identification of sequence variants in genes using next-generation sequenc

171 e we discuss the key challenges of assessing sequence variants in human disease, integrating both gen

172 ure functional binding of C5 to all possible sequence variants in its substrate binding site, using a

173 iscover efficiently and cost-effectively DNA sequence variants in large populations.

174 Here, heterozygous sequence variants in LMNA, which result in single amino-

175 assign adaptive functions to specific mtDNA sequence variants in mammals.

176 resent findings on relations of AMD with DNA sequence variants in MX-associated genes.

177 conditions, and the occurrence of the TL/TLR sequence variants in Nature correlates with their thermo

178 it with firmly established associations with sequence variants in nicotine acetylcholine receptor gen

179 The sequence variants in our cases included missense substit

180 We conclude that deleterious sequence variants in PBX1 cause intellectual disability

181 ting methods to examine distributions of DNA sequence variants in PPARGC1A for association with NV AM

182 escribe the density and frequency spectra of sequence variants in relation to their functional annota

183 CD8 T cell responses and rapidly accumulate sequence variants in SIVmac239-infected Mauritian cynomo

184 uence alignment, and design primers based on sequence variants in the alignment.

185 Two coding sequence variants in the APOL1 gene (G1 and G2) explain

186 We identified 23 sequence variants in the chromosome 6 locus associated w

187 turation is largely controlled by cis-acting sequence variants in the FAD2 5' untranslated region int

188 strategy by identifying missense and dosage sequence variants in the gene encoding the adhesive junc

189 Sequence variants in the genes that produce 20-hydroxyei

190 ifferent phenotypes had homozygous recessive sequence variants in the GPI biosynthesis gene PIGY.

191 ent eight patients with de novo, deleterious sequence variants in the PBX1 gene.

192 o investigate the functional consequences of sequence variants in the PIGY gene.

193 Low-frequency coding DNA sequence variants in the proprotein convertase subtilisi

194 Patients with cancer carry somatic sequence variants in their tumour in addition to the ger

195 Studies assessing influences of specific sequence variants in these and other genetic loci in lar

196 and survival traits against rare and common sequencing variants in genome-wide association studies (

197 cale genetic studies have revealed that rare sequence variants, including single nucleotide variants

198 FL-altered enhancers also were enriched for sequence variants, including somatic mutations, which di

199 Sequence variants, including the epsilon4 allele of apol

200 ld not confirm the original detection of >20 sequence variants, including the nonviable mutations and

201 A larger set of sequence variants, including variants within proneural n

202 across MAP2K3 identified several paralogous sequence variants indicating that the region may have be

203 DNA sequence variants influence gene expression and cellular

204 of strong interaction between adiposity and sequence variants influencing other adiposity-associated

205 nterrogate methylation states of hundreds of sequence variants inserted at the same genomic site in m

206 es associated in trans with a CIITA intronic sequence variant, integrate with CIITA recruitment and s

207 heir genomic context and their characterized sequence variants, integrating a database of over 10,000

208 des useful companion features for annotating sequence variants, integrating bioinformatics databases,

209 e universal reference genome and do not take sequence variants into consideration.

210 an genomes to reveal personal collections of sequence variants is now well established, there has bee

211 ining disease risk when the pathogenicity of sequence variants is uncertain, and current strategies f

212 The remaining 5 sequence variants (L134V, S227I, Q228H, R410G, and D414N

213 ts also show a statistical correspondence to sequence variants linked to human disease, and can there

214 association studies (GWASs) have identified sequence variants, localized to non-coding genomic regio

215 However, the vast majority of sequence variants map to non-coding intergenic and intro

216 that studies of the frequency spectra of DNA sequence variants may be unable to distinguish between s

217 For each sequence variant Multipass calculates the likelihood and

218 ed the affinity of hnRNP A1 for all possible sequence variants (n = 16,384) of the HIV exon splicing

219 and gene expression; it is modulated by DNA-sequence variants, named methylation quantitative trait

220 Possible involvement of ZEB1 sequence variants not readily identified by direct seque

221 ferase assays, we showed that all six coding sequence variants observed in individuals significantly

222 es of transcription factors for all possible sequence variants of a length k ('k-mers').

223 studies (GWAS) have not identified maternal sequence variants of genome-wide significance that repli

224 Sequence variants of Inpp4b (C/A, exon 13; A/C, exon 14)

225 achoma are functionally associated with some sequence variants of ompA and pmpEFGH.

226 Five sequence variants of PfRH5 were expressed that differed

227 association between kidney diseases and two sequence variants of the APOL1 gene, called APOL1 risk v

228 tive selection in these mice express natural sequence variants of the canonical TCR-alpha and decreas

229 ied the sex-determining switch of 14 natural sequence variants of the csd gene among 76 genotypes of

230 Therefore, we designed sequence variants of the p27 IDR to alter charge pattern

231 Amino acid sequence variants of the prion protein (PrP) determine t

232 ted atomic structures of five representative sequence variants of the reverse transcriptase protein (

233 s A and B and were shown to neutralize three sequence variants of these toxins (toxinotypes) which ar

234 ur laboratory isolate of the straight genome sequenced variant of 11168 (11168-GS) was also identifie

235 ther diseases, elucidation of the effects of sequence variants on protein fitness in evolution and pr

236 -associated de novo mutations and other rare sequence variants on TRIO function, we utilized two FRET

237 human lifespan is in part due to a myriad of sequence variants, only a few of which have been reveale

238 ry regions of LOXL1 identified 11 additional sequence variants; only rs41435250 showed an association

239 damental challenge in genomics is to map DNA sequence variants onto changes in gene expression.

240 individuals heterozygous for BMP2 truncating sequence variants or deletions display a consistent dist

241 fold lower against 4 mutants with other FHbp sequence variants (P </= .005, compared with FHbp-FH(low

242 risk score derived from up to 57 common DNA sequence variants previously associated with coronary he

243 Protein sequence variants (PSVs) are a type of product-related v

244 The method relies on per-sample dominant sequence variant reconstruction within species-specific

245 Analysis of novel sequence variants revealed homozygosity for two nonsense

246 Functional studies on five PBX1 sequence variants revealed perturbation of intrinsic, PB

247 Analysis of two CA protein sequence variants reveals that, unexpectedly, the confor

248 ogenic substrates that we describe and their sequence variants should find wide use in the detection

249 A total of 4,964 sequence variants (SNVs) were observed and 80% were rare

250 ctions in the context of the different viral sequence variants studied supported these results.

251 to allow upload, annotation and analysis of sequence variants such as single nucleotide variants (SN

252 ociation signals are much stronger for HIV-1 sequence variants than VL, reflecting the 'intermediate

253 Plasmodium parasites, and identifies a PfRH5 sequence variant that can be used for clinical productio

254 Sequence variants that alter protein binding affinity ma

255 the identification and replication of common sequence variants that are associated with either effica

256 in understanding the genes and specific DNA sequence variants that are responsible for this heritabi

257 es (GWASs) have successfully identified many sequence variants that are significantly associated with

258 In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal ce

259 To search for sequence variants that confer risk of osteoarthritis of

260 DNA sequence variants that decrease cholesteryl ester transf

261 We identified 454 sequence variants that differed from the human reference

262 ecently identified >400 loci that harbor DNA sequence variants that influence blood pressure (BP).

263 e, we investigate the selection pressures on sequence variants that predispose to schizophrenia, auti

264 We present a database of >15 million sequence variants that provides much of this approach's

265 Human DNA sequence variants that truncate the CETP gene may provid

266 Such maps can nominate regulatory sequence variants that underlie GWAS signals for common

267 additionally identified two rare MPO coding sequence variants that were associated with serum MPO le

268 sequences of 2261 Icelanders and identified sequence variants that were likely to affect protein fun

269 Among the different fHbp sequence variants, those more central in a phylogenic ne

270 ze the locations-within exons and introns-of sequence variants to be analyzed and the predicted effec

271 vels of heterogeneities ranging from primary sequence variants to post-translational modifications.

272 g to an enhanced understanding of how genome sequence variants underlie phenotype and disease.

273 a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patie

274 The sequence variant was absent from databases, predicted to

275 I148M, the rs2294918 G>A polymorphism (E434K sequence variant) was over-represented in NAFLD (adjuste

276 ically diverse population of mice with known sequence variants, we are able to determine that the int

277 lation studies using both simulated and real sequence variants, we compared a standard single variant

278 LPA sequence variants were associated with atherosclerotic b

279 Genes neighboring the top 208 EoE-associated sequence variants were enriched for esophageal expressio

280 t are predominantly composed of HOR size and sequence variants were functionally less competent.

281 g autosomal recessive inheritance, two novel sequence variants were identified in both siblings in CY

282 Six NKX2-5 coding sequence variants were identified, including 3 nonsynony

283 Three BEST1 sequence variants were identified: c.73C>T (p.Arg25Trp),

284 ers, and an additional 4022 SNPs and 263,531 sequence variants were imputed onto the population using

285 SPG11/KIAA1840 mutations in 12 families (two sequence variants were never reported before, p.Gln198*

286 tic locus of the sequence changes, 39 of the sequence variants were prioritized for recombinant pheno

287 The sequence variants were randomly distributed and unique t

288 applications is to identify disease-causing sequence variants, where high coverage and accuracy are

289 s following infection and rapidly select for sequence variants, whereas other CD8 T cell responses de

290 and p.R1300Q likely represent nonpathogenic sequence variants, whereas the p.R2107H substitution app

291 uncovered polymorphisms that result in PAR4 sequence variants with altered reactivity that interact

292 require the evaluation of a large number of sequence variants with an easy selectable phenotype.

293 uidelines for the clinical interpretation of sequence variants with respect to human diseases on the

294 ractive display of the query, a full list of sequence variants with taxonomic information and a stati

295 Identification of rare sequencing variants with a larger functional impact has

296 We identify a novel sequence variant within a single IS patient that disrupt

297 iation studies identified potentially causal sequence variants within approximately 40 genes in an ap

298 hese results illustrate, and remind us, that sequence variants within exon-intron boundaries, which a

299 morphic markers flanking the PRPH2 locus and sequence variants within the gene were determined by den

300 Here, we have identified two sequence variants within the near full coding region of