ライフサイエンスコーパス: sequence variant

1 aks likely contribute to naturally occurring sequence variants.

2 crobial sequences were classified into exact sequence variants.

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

4 nger negative selection pressure than common sequence variants.

5 myloid state that supports comparisons among sequence variants.

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

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

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

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

10 ,886 genes whose expression differs with the sequence variants.

11 ific functions and harbor disease-associated sequence variants.

12 me to interpret the clinical significance of sequence variants.

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

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

15 haplotype lacking other disease-causing rare sequence variants.

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

17 6 kb of ABCA4 and did not contain other rare sequence variants.

18 all transcripts having nonsynonymous coding sequence variants.

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

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

21 to the discovery of isomiRs, which are miRNA sequence variants.

22 map the activity of millions of glycosidase sequence variants.

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

24 e a tool for mapping phenotypes to genes and sequence variants.

25 dentification and characterization of CYP1B1 sequence variants.

26 in the congenic region and contained several sequence variants.

27 (CGA) motif and several structurally related sequence variants.

28 was investigated in detail using LL37(FRRV) sequence variants.

29 learning analysis of a comprehensive set of sequence variants.

30 calable set of principles to manage asserted sequence variants.

31 ce is based on both DNA sequence and non-DNA sequence variants.

32 ture and individual abundances of particular sequence variants.

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

34 spectrum pointing at a proline-to-histidine sequence variant (+40 Da) missed by classical MD analysi

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

36 We identify 220 host DNA sequence variants acting in cis (MAF 0.01-49.9%) and exp

37 Sequence variants affecting blood lipids and coronary ar

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

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

40 Sequence variants affecting transcription factor (TF) bi

41 a, particularly when annotating whole-genome sequencing variants against a huge database with billion

42 Together, our findings demonstrate how a sequence variant alters phenotype and then reveal the en

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

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

45 However, whole genome sequencing, variant analyses and directed mutagenesis re

46 Sequence variant analysis revealed that the amyloplast a

47 al participant confirmed the presence of the sequence variant and identified two further members of t

48 be used to identify associations between DNA sequence variants and changes in gene expression (quanti

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

50 t associations between specific fungal exact sequence variants and FEV(1), fraction of exhaled nitric

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

52 9 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium pan

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

54 creening method for Hb proteoforms including sequence variants and modified species extracted from dr

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

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

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

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

59 onstruct, free of sequencing error, the true sequence variants and their associated frequencies from

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

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

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

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

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

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

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

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

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

69 Biological sequence variants are commonly represented in scientific

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

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

72 How effects of DNA sequence variants are transmitted through intermediate e

73 es, it is imperative that we differentiate a sequence variant as either benign or pathogenic, such th

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

75 tic predisposition using 40 of 3983 amplicon sequence variants as proxies for bacterial species.

76 ial regulatory function for 27,325 noncoding sequence variants associated with 2,117 physiological tr

77 Genomic analysis of sequence variants associated with antimicrobial resistan

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

79 d demonstrate tissue-specific enrichments of sequence variants associated with disease in humans.

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

81 Sequence variants associated with gene expression (expre

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

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

84 We identify sequence variants associating with kidney stones at ALPL

85 We discover 131 independent sequence variant associations (P < 7.45 x 10(-11)) acros

86 Single nucleotide exact amplicon sequence variants (ASV) of the human gut microbiome were

87 ses revealed numerous Synechococcus amplicon sequence variants (ASVs) and that clade and ASV composit

88 Amplicon sequence variants (ASVs) offer a promising alternative t

89 Almost no (4%) Symbiodiniaceae amplicon sequence variants (ASVs) were found in all three compart

90 We identified tens to thousands of amplicon sequence variants (ASVs) within ecotypes, many of which

91 We detected 171 fungal amplicon sequence variants (ASVs), 70 from the air and 142 from t

92 the fecal microbiota as read out by amplicon sequence variants (ASVs).

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

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

95 F3B1K700E spliceosomes utilize non-canonical sequence variants (at position -1 relative to BP adenosi

96 ant differences in the abundance of amplicon sequence variants between sample types in children and a

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

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

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 Our results demonstrate that common DNA sequence variants can influence 3D chromatin conformatio

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

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

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

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

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

110 at compound genetic interactions between DNA sequence variants contribute to the complex heritability

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

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

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

114 xible set theoretical expressions to sets of sequence variant data.

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

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

117 Low-abundance ("background") sequence variants differed more among years than between

118 We detected 346 fungal amplicon sequence variants dominated by the phyla Ascomycota, Bas

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

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

121 ing volume of functional annotation data and sequencing variants, existing variant annotation algorit

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

123 We tested 32.5 million sequence variants for association with urinary biomarker

124 with testing of approximately 13 million DNA sequence variants for association with venous thromboemb

125 ys (MPRA) enable systematic screening of DNA sequence variants for effects on transcriptional activit

126 in biochemical studies, identifying improved sequence variants for stronger protein-protein interacti

127 The maximum number of sequence variants for the whole genome was 58 nucleotide

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

129 ackage seqminer2 for querying and retrieving sequence variants from biobank scale datasets of million

130 vered the full complement of full-length 16S sequence variants from expected community members withou

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

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

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

134 ge scale genomic studies produce millions of sequence variants, generating datasets far too massive f

135 A sequence variant, H18A/H19A, was employed; this mutant h

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

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

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

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

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

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

142 e, review approaches to interpreting genomic sequence variants, identify publicly available tools and

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

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

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

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

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

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

149 parallel reporter assays, test thousands of sequence variants in a single experiment.

150 ccession PI 614886 and the identification of sequence variants in additional accessions from quinoa a

151 Observed DNA sequence variants in any of 49 genes with known associat

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

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

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

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

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

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

158 by chromosomal microarrays), and pathogenic sequence variants in developmental genes.

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

160 The maximum number of sequence variants in E6 and E7 was 3 (3/450, 0.7%) 2 (2/

161 w that the signature can accurately classify sequence variants in EED and SUZ12, which encode two oth

162 ith utility for diagnostic classification of sequence variants in EZH2, EED, and SUZ12 supports the e

163 ignificant associations with rare and common sequence variants in genes related to the enteric nervou

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

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

166 Here, we searched for sequence variants in LDLR that have a large effect on LD

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

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

169 Eighteen sequence variants in NR2E3 were identified, including 4

170 The sequence variants in our cases included missense substit

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

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

173 Five sequence variants in SLC16A11 (rs117767867, rs13342692,

174 rone reverse transcriptases to generate vast sequence variants in specific target genes, which have b

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

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

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

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

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

180 Sequence variants in the genes that produce 20-hydroxyei

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

182 Disease-causing sequence variants in the highly polymorphic AIPL1 gene a

183 Rare sequence variants in the microglial cell surface recepto

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

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

186 Exonic DNA sequence variants in the Tbk1 gene associate with both s

187 DNA sequence variants in the TBK1 gene associate with or cau

188 tory of DCM, we discovered that heterozygous sequence variants in the TROPOMYOSIN 1 (TPM1) and VINCUL

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

190 g RNA sequencing, we traced the emergence of sequence variants in transduction channels, like transie

191 7) associated with biallelic disease-causing sequence variants in USH2A.

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

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

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

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

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

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

198 evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolvin

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

200 The accurate identification of DNA sequence variants is an important, but challenging task

201 Most miRNAs contained sequence variants (isomiRs).

202 and 208 novel, including 11 canonical miRNA sequence variants known as "isomiRs") were identified in

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

204 DNA sequence variants, large copy-number variants, and karyo

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

206 For each sequence variant Multipass calculates the likelihood and

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

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

209 We discovered a putative new sequence variant of the beta-chain in dog (T38 -> A).

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

211 A major question in human genetics is how sequence variants of broadly expressed genes produce tis

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

213 Two exact sequence variants of Gilliamella, a core gut symbiont th

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

215 Five sequence variants of PfRH5 were expressed that differed

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

217 Bacterial amplicon sequence variants of the genera Ralstonia, Pseudomonas,

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

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

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

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

222 Disease-causing sequence variants often affect binding residues.

223 Normalizing sequence variants on a reference, projecting them across

224 perform diagnosis based on the detection of sequence variants on cfDNA; thus, their applications are

225 ersensitive regions, and predicted impact of sequence variants on DNaseI sensitivity.

226 on which to evaluate the potential impact of sequence variants on prion disease.

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

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

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

230 in exon 1 of XYLT1, always in trans with the sequence variant or deletion when present; both alleles

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

232 In clinical routine analysis of glycated Hb, sequence variants or other Hb proteoforms can cause inte

233 hat despite an accumulation of low-frequency sequence variants over time, there is no evidence of sig

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

235 A naturally occurring sequence variant (P310L, rs2227376) and 2 experimental m

236 We observed 279.84 +/- 0.79 amplicon sequence variants per snail.

237 most accurate approach for identification of sequence variants present at very low frequencies.

238 created a database including data on 276,921 sequence variants, present within 187 genes associated w

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

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

241 long-read aligners and leverages paralogous sequence variants (PSVs)-sequence differences between pa

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

243 determine the thermodynamics of around 2000 sequence variants representing all possible hydrophobic

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

245 ere the identification of a common noncoding sequence variant, rs7173049A>G, located downstream of LO

246 ), a technique to monitor tRNA abundance and sequence variants secondary to RNA modifications.

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

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

249 Among the high number of sequence variants, some can cause severe diseases.

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

251 At the sequence variant (SV) level, akin to bacterial species,

252 We also observed that the dominant sequence variant switched during the peak of multiple Sy

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

255 005, together with fibrils formed by protein sequence variants that are derived from the closest germ

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

257 opean and Central Asian mothers, we identify sequence variants that associate with preeclampsia in th

258 Associations between protein levels and DNA sequence variants that colocalize with risk alleles for

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

260 DNA sequence variants that decrease cholesteryl ester transf

261 Sequence variants that exhibit high fitness in one strai

262 ry goal of human genetics is to identify DNA sequence variants that influence biomedical traits, part

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

264 association studies have mapped the specific sequence variants that predispose for multiple sclerosis

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

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

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

268 tched PorA and heterologous FHbp subfamily B sequence variants, the NOMV-FHbp vaccine produced >=30-f

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

270 g accuracy of 99.7% and resolve intra-sample sequence variants to form whole-genome haplotypes.

271 tructural rearrangements that permit certain sequence variants to maintain activity.

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

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

274 p22.2, identifying cis-regulatory functional sequence variants underlying multiple independent GWAS s

275 ed in quantitative trait mapping to identify sequence variants underlying trait variation.

276 ce intrinsic heterogeneity including primary sequence variants, varied drug-to-antibody ratio (DAR) s

277 The sequence variant was absent from databases, predicted to

278 omal genes was performed in probands; when a sequence variant was identified, cascade family screenin

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

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

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

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

283 The measured abundances of intra-genomic sequence variants were in the integral ratios expected f

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

285 The SLC16A11 sequence variants were significantly associated with ris

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

287 inue to provide a highly curated database of sequence variants, while supporting the increased number

288 lion Veteran Program testing ~18 million DNA sequence variants with AAA (7642 cases and 172 172 contr

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

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

291 BCrystal enables it to accurately screen for sequence variants with enhanced crystallizability.

292 lion Veteran Program testing ~32 million DNA sequence variants with PAD (31,307 cases and 211,753 con

293 et(low) phenotype, which associated with HDV sequence variants with reduced HLA binding and reduced T

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

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

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

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 DNA-sequence-variants within RBM20 were considered suitable