ライフサイエンスコーパス: single nucleotide variant

1 vity and specific effects of disease-related single nucleotide variants.

2 o correctly call allele frequencies of known single nucleotide variants.

3 all novel associations were driven by common single nucleotide variants.

4 ed domains, phosphorylation sites, and known single nucleotide variants.

5 lonally independent, having distinct somatic single-nucleotide variants.

6 es showing high expression, and with somatic single-nucleotide variants.

7 wn primary miRNA substrates and thousands of single-nucleotide variants.

8 binding sites and reactivity differences at single-nucleotide variants.

9 ce in magnitude similar to that observed for single-nucleotide variants.

10 y-number alterations (CNAs) but little-to-no single-nucleotide variants.

11 es of a 16p11.2 deletion affecting TBX6) and single-nucleotide variants (1 nonsense and 4 frame-shift

12 Molecular profiling of single nucleotide variants across thousands of cells rev

13 ly been argued that the mean count of coding single nucleotide variants acting as disease-drivers in

14 that a comparison of a fixed number of core single nucleotide variants alone cannot be used to infer

15 also observed in cancer genomes, considering single nucleotide variants alongside tissue-of-origin-ma

16 We focused on non-synonymous single nucleotide variants, also referred to as single a

17 However, single nucleotide variant analysis uncovered a relativel

18 We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions a

19 We identified 524,640 single nucleotide variants and 4812 structural variants

20 The pipeline can also detect single nucleotide variants and assemble high quality com

21 We assessed single nucleotide variants and copy number alterations i

22 verage facilitates simultaneous detection of single nucleotide variants and exonic copy number varian

23 Identified pathogenic variants included both single nucleotide variants and exonic copy number varian

24 e variant allele fractions (VAFs) of somatic single nucleotide variants and indels across 5095 clinic

25 xome sequencing data of smaller, deleterious single nucleotide variants and indels.

26 als, the AGRP contains >12 M high-confidence single nucleotide variants and short indels, of which 12

27 han 60 genomic features, and can score human single nucleotide variants and short insertion and delet

28 hly accurate somatic mutation calls for both single nucleotide variants and small insertions and dele

29 t delineating the allelic expression of both single nucleotide variants and small insertions and dele

30 Analysis of single nucleotide variants and their expression in singl

31 equencing, we validated 80-90% of the mosaic single-nucleotide variants and 60-80% of indels detected

32 Integrative analysis of single-nucleotide variants and allelic imbalance events

33 expression of rare genic CNVs and regulatory single-nucleotide variants and found that reactivation o

34 is dominated by loss-of-function/deleterious single-nucleotide variants and frameshift indels (that i

35 d-level features to accurately detect mosaic single-nucleotide variants and indels, achieving a multi

36 ncing data are generated primarily to detect single-nucleotide variants and indels, they can also be

37 iscovEHR study to identify ~4.2 million rare single-nucleotide variants and insertion/deletion events

38 ve clusters reveals prototypical patterns of single-nucleotide variants and is associated with distin

39 imized the signal difference for 11 pairs of single-nucleotide variants and performed tunable hybrid

40 se cases, HPV18 gene expression was low, and single-nucleotide variants and positions of genomic alig

41 ted phylogenetic tree on the basis of binary single-nucleotide variants and projected the more comple

42 is an open-source software that incorporates single-nucleotide variants and short insertions and dele

43 However, the causal nature of single-nucleotide variants and small insertions and dele

44 ew of IGV's variant review features for both single-nucleotide variants and structural variants, with

45 opy number amplifications, and that rates of single-nucleotide variants and SVs are not correlated.

46 rt-read data with long reads, we phased both single-nucleotide variants and SVs, generating haplotype

47 ata (n = 1,276), we conducted NGS-based HLA, single-nucleotide-variant and indel imputation of large-

48 12/13 novel) gene fusions, 231 nonsynonymous single nucleotide variants, and 21 insertions and deleti

49 Sequencing data included 82,068 single-nucleotide variants, and 10,337 genes were tested

50 developed to predict the effects of missense single-nucleotide variants, and they are frequently empl

51 re classically conducted through genome-wide single-nucleotide variant arrays (GWSA).

52 Utilizing allele fractions of somatic single nucleotide variants as molecular clocks while acc

53 terms of frequency, they are second only to single nucleotide variants as pathogenic mutations.

54 Here, we functionally test 1,605 single nucleotide variants associated with osteoarthriti

55 n related individuals, and identified ~2,000 single-nucleotide variants associated with allele-specif

56 g DNA often requires the ability to identify single nucleotide variants at allele frequencies below 0

57 ind that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among no

58 itness effects of all observed and potential single-nucleotide variants, based on polymorphism data a

59 that SVclone's performance is comparable to single-nucleotide variant-based methods, despite having

60 currence, with less than 8% of nonsynonymous single-nucleotide variants being shared in diagnostic-re

61 Moreover, shared single nucleotide variants between LCR22A and LCR22D wer

62 subject to stronger selective pressure than single-nucleotide variants, but their roles in archaic i

63 ve been used to enable the discrimination of single-nucleotide variants, but typically these approach

64 om 48 patients were interrogated for somatic single-nucleotide variants by deep-targeted DNA sequenci

65 Here, we present Reveel, a novel method for single nucleotide variant calling and genotyping of larg

66 GraphMap alignments enabled single-nucleotide variant calling on the human genome wi

67 ultiplexing of small insertion-deletions and single-nucleotide variants characteristic of CRISPR/Cas9

68 that can be used as truth sets (for example, single-nucleotide variant concordance of two methods is

69 gnature linked to sun exposure, the expected single-nucleotide variant count associated with the pres

70 and how they localize to disease-associated single nucleotide variants (daSNVs) remains an open area

71 ne and study genotype network structure from single-nucleotide variant data.

72 % recall of cancer genes impacted by somatic single-nucleotide variants, depending on the method).

73 We present a single-nucleotide-variant detection tool that uses maxim

74 the twin pairs-such as copy number and rare, single-nucleotide variants-did not contribute to phenoty

75 In vitro experiments demonstrate that this single nucleotide variant directly affects exon 14 skipp

76 ted to genetic mutations, especially de novo single nucleotide variants (dnSNVs), that accumulate wit

77 l coding genes are additionally supported by single-nucleotide variant evidence indicative of continu

78 Fifteen and one single-nucleotide variants for resting Tpe and Tpe respo

79 ighted LDL-C polygenic score, composed of 28 single-nucleotide variants, for individuals with monogen

80 e apply pong to 225 705 unlinked genome-wide single-nucleotide variants from 2426 unrelated individua

81 the frequency of the preferred sequence with single-nucleotide variants has the risk of generating mo

82 equencing of primary RMS tumors identified a single nucleotide variant in the CASZ1 coding region tha

83 We identified a rare single nucleotide variant in the laminin beta 4 gene (LA

84 Globally, there is an enrichment of single nucleotide variants in active binding sites for T

85 causes Williams-Beuren syndrome (WBS), while single nucleotide variants in ELN cause nonsyndromic sup

86 eq is able to identify splicing variants and single nucleotide variants in one experiment simultaneou

87 chnologies have accelerated the discovery of single nucleotide variants in the human genome, stimulat

88 We report on a nonsynonymous single-nucleotide variant in serpin family A member 1 (S

89 A notable example of this is a single-nucleotide variant in the Solute Carrier Family 3

90 g, we have identified two novel heterozygous single-nucleotide variants in FAM136A and DTNA genes, bo

91 The data suggest a potential link between single-nucleotide variants in NCSTN and AD risk.

92 he FOXA1 regulatory plexus harboring somatic single-nucleotide variants in primary prostate tumors.

93 tistical method for detecting and genotyping single-nucleotide variants in single-cell data.

94 Single-nucleotide variants in the BACH2 locus are associ

95 present the distribution of over 150 million single-nucleotide variants in the coding and noncoding g

96 cardiomyopathy had inherited three missense single-nucleotide variants in the MKL2, MYH7, and NKX2-5

97 genetic discoveries robustly implicate five single-nucleotide variants in the progression of non-alc

98 sensitive genotyping assay to detect somatic single-nucleotide variants in the telomerase reverse tra

99 Mutations (or Single Nucleotide Variants) in folded RiboNucleic Acid s

100 A total of 203 single nucleotide variants, in 23 genes across 164 patie

101 sus macaques revealed more than 43.7 million single-nucleotide variants, including thousands predicte

102 error rates (0.17%), providing fully phased single-nucleotide variants, indels and structural varian

103 of germline and somatic variants, including single-nucleotide variants, indels, and structural varia

104 We identified pathogenic variants (single-nucleotide variants, indels, or structural varian

105 d-parent trios were interrogated for de novo single-nucleotide variants/indels (dnSNVs/indels) and de

106 NGS data may help to identify single nucleotide variants, insertions/deletions, copy n

107 ncing and de novo genome mapping to identify single-nucleotide variants, insertions and deletions, an

108 t simultaneous correction or introduction of single nucleotide variants is required for disease model

109 sequencing allowed us to identify intrahost single-nucleotide variants (iSNVs) and to characterize w

110 Strain and single-nucleotide variant-level analysis showed that ind

111 led a large reservoir of accessory genes and single-nucleotide variants, many of which are specific t

112 Six of the ten single-nucleotide variants mapping to FOXA1 regulatory p

113 to as missense mutations, or non-synonymous Single Nucleotide Variants - missense SNVs or nsSNVs) fo

114 covered more than 65,000 variants, including single-nucleotide variants, multiple-nucleotide variants

115 FGFR2 amplification (n = 20), FGFR2 or FGFR3 single-nucleotide variants (n = 19), or FGFR1 or FGFR3 f

116 background rate of rare SCN5A nonsynonymous single nucleotide variants (nsSNVs) among healthy indivi

117 Nonsynonymous single nucleotide variants (nsSNVs) constitute about 50%

118 Non-synonymous single nucleotide variants (nsSNVs) in coding regions of

119 f protein-sequence altering (non-synonymous) single nucleotide variants (nsSNVs).

120 We also demonstrate that nonsynonymous single-nucleotide variants (nsSNVs) of the hGMPK CORE do

121 E uses variant allele frequencies of somatic single nucleotide variants obtained by deep sequencing t

122 umor evolutionary lineage trees from somatic single nucleotide variants of single cells.

123 Specifically, single-nucleotide variants of BAP1 were observed in 21%

124 ered around 2 subpopulations differing by 22 single-nucleotide variants of intermediate frequency.

125 of 11.8 pathogenic SCNVs versus 1.0 somatic single-nucleotide variant per CTCL).

126 Analysis of nuclear single nucleotide variants, plastomes and k-mers associa

127 We analyzed 802 regions of 607 genes for single-nucleotide variants previously associated with es

128 A clustering analysis of single nucleotide variants revealed that each patient ha

129 CYP2D6 region revealed that a nonsynonymous single nucleotide variant rs16947 is strongly associated

130 ng highly significant P-values also for GLRB single-nucleotide variants rs17035816 (P=3.8 x 10(-4)) a

131 Three loss-of-function single-nucleotide variants (rs1805007, rs1805008 and rs1

132 ts, while the second evaluates TF binding to single nucleotide variants, short insertions and deletio

133 sults in three classes of genomic variation: single nucleotide variants; short insertions or deletion

134 y technology, which can genotype millions of single-nucleotide variants simultaneously.

135 alidates a wide range of variants, including single nucleotide variants, small indels and large struc

136 The pipeline can look for single nucleotide variants, small indels, structural var

137 nterrogate all forms of variation, including single-nucleotide variants, small insertion or deletion

138 Single nucleotide variant (SNP) analysis was performed u

139 key features include assessment of impact of single nucleotide variants (SNPs) on TF binding sites an

140 y was measured by Shannon entropy (SE) and a single nucleotide variant (SNV) analysis.

141 Rare variant analyses for both single nucleotide variant (SNV) and copy number variant

142 e present GeDi, a suffix array-based somatic single nucleotide variant (SNV) calling algorithm that d

143 Four popular somatic single nucleotide variant (SNV) calling methods (Varscan

144 ework including multiple variant callers for single nucleotide variant (SNV) calling, which leverages

145 vide software implementations for a pairwise single nucleotide variant (SNV) co-occurrence matrix and

146 Single nucleotide variant (SNV) detection procedures are

147 tic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes

148 No single non-synonymous (NS) single nucleotide variant (SNV) nor any gene carrying a

149 A single nucleotide variant (SNV) of the cadherin 23 gene

150 ith large structural disparities caused by a single nucleotide variant (SNV) or riboSNitches.

151 ch subclone is characterized with a distinct single nucleotide variant (SNV) profile.

152 A rare nonsynonymous single nucleotide variant (SNV) within the C-terminal le

153 likelihood-based method for detecting ASE on single nucleotide variant (SNV), exon and gene levels fr

154 Predominantly, studies have focused on single nucleotide variants (SNV), which are relatively e

155 hen exploit phase information which improves single-nucleotide variant (SNV) calling performance from

156 ric single-nucleotide polymorphism (SNP) and single-nucleotide variant (SNV) data, we see that genes

157 Initial re-evaluation of published single-nucleotide variant (SNV) de novo mutations showed

158 sequencing depth, and demonstrate excellent single-nucleotide variant (SNV) detection using targeted

159 t (CNV) or candidate de novo gene-disruptive single-nucleotide variant (SNV) had been detected by mic

160 Evidence for an increased rate of clustered single-nucleotide variant (SNV) mutation in cis with non

161 ale insertions and deletions (indels) and of single-nucleotide variant (SNV) mutations.

162 ffected by rs9383590, a functional inherited single-nucleotide variant (SNV) that accounts for severa

163 variants at the lowest possible granularity, single-nucleotide variants (SNV).

164 lasses (e.g., insertion/deletion [indel] vs. single nucleotide variant [SNV]) are unknown.

165 pulsed-field gel electrophoresis [PFGE], and single-nucleotide variant [SNV] analysis).

166 One novel locus (lead single-nucleotide variant [SNV] rs12614435; p = 6.76 x 1

167 ween 1978 and 2018 revealed few subconsensus single nucleotide variants (SNVs) above ~0.5%, and exper

168 e experimentally the impact of 2009 missense single nucleotide variants (SNVs) across 2185 protein-pr

169 We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-d

170 N2 reference, the CB4856 genome has 327,050 single nucleotide variants (SNVs) and 79,529 insertion-d

171 MuTect2 and VarScan2 were employed to detect single nucleotide variants (SNVs) and copy number aberra

172 Here we described bCYP3A missense single nucleotide variants (SNVs) and evaluated their fu

173 ting (BE) is a powerful tool for engineering single nucleotide variants (SNVs) and has been used to c

174 hermore, sensitive and accurate detection of single nucleotide variants (SNVs) and indels from cfDNA

175 eoepiscope chiefly to address this issue for single nucleotide variants (SNVs) and insertions/deletio

176 methods capable of predicting the impact of single nucleotide variants (SNVs) are assuming ever incr

177 all non-coding regulatory variants, cis-eQTL single nucleotide variants (SNVs) are of particular inte

178 Nonetheless, many of the same single nucleotide variants (SNVs) are shared between ger

179 earlier studies identified and validated 56 single nucleotide variants (SNVs) associated with BP fro

180 RNA sequences of a gene can have single nucleotide variants (SNVs) due to single nucleoti

181 d ubiquitous sharing of clonal and subclonal single nucleotide variants (SNVs) encoding putative HLA

182 hniques, drawing upon 10 029 disease-causing single nucleotide variants (SNVs) from Human Gene Mutati

183 NA sequencing data; thus, being able to call single nucleotide variants (SNVs) from scRNA-seq data al

184 hort reads containing more than 3 million of single nucleotide variants (SNVs) from the whole human g

185 Single nucleotide variants (SNVs) identified in cancer g

186 pplied our method to approximately 1 million single nucleotide variants (SNVs) identified in high-cov

187 DNA-sequence comparisons used single nucleotide variants (SNVs) identified in the exom

188 Single nucleotide variants (SNVs) in intronic regions ha

189 s study, we assessed the correlation of five single nucleotide variants (SNVs) in the CRBN gene with

190 in nearly 70,000 individuals indicated that single nucleotide variants (SNVs) in the gene encoding t

191 for predicting the disease-driver status of single nucleotide variants (SNVs) in the human cancer ge

192 ced plasmonic method for detecting ~1 aM RAS single nucleotide variants (SNVs) in the plasma of CRC p

193 One mechanism by which noncoding single nucleotide variants (SNVs) influence downstream p

194 Functional characterization of single nucleotide variants (SNVs) involves two steps, th

195 The detection of rare single nucleotide variants (SNVs) is important for under

196 Single nucleotide variants (SNVs) located in transcripti

197 strumental in understanding how thousands of single nucleotide variants (SNVs) may affect gene expres

198 We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for

199 pipeline, LocHap that searches for multiple single nucleotide variants (SNVs) that are scaffolded by

200 Identifying single nucleotide variants (SNVs) that contribute to dif

201 a genome-wide analysis to identify the rare single nucleotide variants (SNVs) that occur in non-codi

202 es the tumor phylogeny tree built on somatic single nucleotide variants (SNVs) to identify high confi

203 rtantly, hierarchical clustering analysis of single nucleotide variants (SNVs) uncovered a distinct o

204 ficity of the 2 techniques to identify known single nucleotide variants (SNVs) using 6 control sample

205 ent multiSNV, a software package for calling single nucleotide variants (SNVs) using NGS data from mu

206 Single nucleotide variants (SNVs) were used to reconstru

207 -CEH patterns of variation and uncovered 127 single nucleotide variants (SNVs) which are missing from

208 on/deletion (indels) accumulating as fast as single nucleotide variants (SNVs), and elevated amounts

209 ad genome-wide genotypes for ~300,000 common single nucleotide variants (SNVs), from 98 whole genome

210 sertions and deletions (indels), followed by single nucleotide variants (SNVs), have the highest prob

211 ealed that rare sequence variants, including single nucleotide variants (SNVs), in glutamatergic syna

212 In addition to the detection of single nucleotide variants (SNVs), information on copy n

213 Somatic mosaicism, manifesting as single nucleotide variants (SNVs), mobile element insert

214 ssociated with coding variations via de novo single nucleotide variants (SNVs), recessive/homozygous

215 merases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Mi

216 tumour-specific antigen analyses has been on single nucleotide variants (SNVs), with the contribution

217 We identified 2719 single nucleotide variants (SNVs).

218 ase III (Exo III) for the differentiation of single nucleotide variants (SNVs).

219 de in a panel of 29 BMs and we identified 56 Single Nucleotide Variants (SNVs).

220 elective hybridization probes in recognizing single nucleotide variants (SNVs).

221 0 Genomes Project has revealed multitudes of single nucleotide variants (SNVs).

222 ects have described around a hundred-million single nucleotide variants (SNVs).

223 se exome sequencing to analyse nonsynonymous single-nucleotide variants (SNVs) across the whole genom

224 Interestingly, GMAS genes, exons, and single-nucleotide variants (SNVs) all demonstrated posit

225 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel

226 This resource includes >59 million single-nucleotide variants (SNVs) and 9,212 private copy

227 mutations, which are mostly the C->T type of single-nucleotide variants (SNVs) and appear to be enric

228 , we generated a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number varian

229 Genetic variants, including single-nucleotide variants (SNVs) and copy number varian

230 Ls) in 13 tissues via joint analysis of SVs, single-nucleotide variants (SNVs) and short insertion/de

231 ed analyses and more consistent with somatic single-nucleotide variants (SNVs) and small indels in th

232 blastoma shows a relative paucity of somatic single-nucleotide variants (SNVs) and small insertions a

233 Approximately 2% of de novo single-nucleotide variants (SNVs) appear as part of clus

234 Finally, we provide evidence of 45 single-nucleotide variants (SNVs) associated with human

235 ), 21.2 million, including 12 million novel, single-nucleotide variants (SNVs) at an estimated false

236 Here we report de novo non-synonymous single-nucleotide variants (SNVs) by conducting whole ex

237 studies suggest that as few as 3 core genome single-nucleotide variants (SNVs) discriminate between g

238 me profiling studies have identified somatic single-nucleotide variants (SNVs) in cancer, the extent

239 us interrogation of extended sets of somatic single-nucleotide variants (SNVs) in circulating cell-fr

240 ncreasingly uncovering large numbers of rare single-nucleotide variants (SNVs) in coding regions of t

241 in SMS reads to accurately detect and phase single-nucleotide variants (SNVs) in diploid genomes.

242 Single-nucleotide variants (SNVs) in single cells from b

243 Here we survey the landscape of somatic single-nucleotide variants (SNVs) in the human brain.

244 rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals c

245 Indeed, somatic single-nucleotide variants (SNVs) increase with age in t

246 Base editing - the introduction of single-nucleotide variants (SNVs) into DNA or RNA in liv

247 eterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving TBX4 (n = 8

248 Discovering single-nucleotide variants (SNVs) is also of great impor

249 so show that the spectrum of induced de novo single-nucleotide variants (SNVs) is strikingly differen

250 sociation studies have identified non-coding single-nucleotide variants (SNVs) near (e.g., rs10166942

251 Thousands of noncoding somatic single-nucleotide variants (SNVs) of unknown function ar

252 e sequenced, and we used the threshold of 40 single-nucleotide variants (SNVs) or fewer to define sub

253 elated subjects carried de novo heterozygous single-nucleotide variants (SNVs) or single-base inserti

254 cs based on the analysis of cell-free DNA or single-nucleotide variants (SNVs) out of reach.

255 ed "Platinum" variant catalog of 4.7 million single-nucleotide variants (SNVs) plus 0.7 million small

256 gene-level analysis of rare (<1% frequency) single-nucleotide variants (SNVs) revealed that the gene

257 OXA-232 CRKP isolates (1-7 per patient) and single-nucleotide variants (SNVs) were analyzed, with re

258 culture revealed that 2.7 x 10(-10) de novo single-nucleotide variants (SNVs) were generated per cel

259 at embryonic day 14.5 showed that off-target single-nucleotide variants (SNVs) were rare in embryos e

260 ave become integral in the interpretation of single-nucleotide variants (SNVs)(5).

261 sion and recall rates of at least 99.91% for single-nucleotide variants (SNVs), 95.98% for insertions

262 hat tumours had an overall low recurrence of single-nucleotide variants (SNVs), but showed prevalent

263 ltifocal tumors are highly heterogeneous for single-nucleotide variants (SNVs), CNAs and genomic rear

264 f TSAs are those derived from non-synonymous single-nucleotide variants (SNVs), or SNV neoantigens.

265 s containing millions of variants and handle single-nucleotide variants (SNVs), simple insertions/del

266 ion of different alteration types, including single-nucleotide variants (SNVs), small insertions and

267 -genealogical) tree based on several hundred single-nucleotide variants (SNVs).

268 he lack of an effective method to prioritize single-nucleotide variants (SNVs).

269 ncing studies of SCZ have uncovered numerous single-nucleotide variants (SNVs); however, the majority

270 harbour schizophrenia de novo non-synonymous single-nucleotide variants (SNVs; P=5.4 x 10(-4)) and ta

271 stly increased pairwise diversity (mean 17.5 single nucleotide variants [SNVs] [95% confidence interv

272 ivated protein kinase pathway (KRAS and NRAS single nucleotide variants [SNVs]), the DNA repair pathw

273 miRNA, copy number alterations [CNAs], SNPs, single nucleotide variants [SNVs], CpG methylation).RESU

274 me sequencing to perform genome-wide somatic single-nucleotide variant (sSNV) identification on DNA f

275 a method that accurately identifies somatic single-nucleotide variants (sSNVs) by using read-level p

276 carcinomatous elements shared 42% of somatic single-nucleotide variants (SSNVs).

277 he combined effects of coding and non-coding single nucleotide variants, structural variants, and DNA

278 t methods for detecting germline and somatic single-nucleotide variants, structural variants, inserti

279 can simultaneously assess haplotype-resolved single-nucleotide variants, structural variations and Cp

280 ota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging

281 We also show that common single-nucleotide variants that are associated with auti

282 es are patterns in the occurrence of somatic single-nucleotide variants that can reflect underlying m

283 ated epidermal growth factor receptor (EGFR) single-nucleotide variants that were tested in murine ly

284 Genomic variation extends from single nucleotide variants to large chromosomal rearrang

285 great diversity of the mutation types--from single nucleotide variants to large genomic rearrangemen

286 predictions of the impact of non-synonymous single nucleotide variants, to facilitate the correct cl

287 of the phenotypic propensities of noncoding single nucleotide variants typically combines annotation

288 t sizes, linkage disequilibrium with tagging single nucleotide variants used in GWAS, and likelihood

289 mative for human ancestry, and identified 38 single nucleotide variants using next generation sequenc

290 We identified single-nucleotide variants using two commonly employed v

291 ning 4 NCMD probands, and 2 additional novel single nucleotide variants (V2 in 3 families and V3 in 1

292 k probes can be used to robustly distinguish single-nucleotide variants, we combined this technique w

293 ged 4 years and older with pathogenic CNV or single nucleotide variants were recruited via the UK Nat

294 n Outcomes and Measures: Butyrophilin-like 2 single-nucleotide variants were associated with UM risk;

295 g circle amplification (RCA) can distinguish single-nucleotide variants, which is promising for the d

296 In cancer, recurrent somatic single-nucleotide variants-which are rare in most paedia

297 We identified 649 associations of somatic single-nucleotide variants with gene expression in cis,

298 ormatic analyses identified disease-specific single nucleotide variants within or near transcription

299 ication of an increasingly large spectrum of single nucleotide variants within the human genome, many

300 d loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated re