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

1 rate, and zero significant recurrent somatic single nucleotide variants.

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

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

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

5 , including copy number variants, indels and single-nucleotide variants.

6 c gene fusions, copy number alterations, and single-nucleotide variants.

7 ment for determining genotypes and detecting single-nucleotide variants.

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

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

10 The mutational spectrum was composed of 9 single nucleotide variants, 2 indels, and 1 copy number

11 In these regions, we identified 1852 single nucleotide variants (695 novel) and captured 85%

12 ur inherited CNVs, de novo CNVs, and de novo single-nucleotide variants all independently contributed

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

14 riants (approximately 15% of all transcribed single nucleotide variants) alter local RNA structure.

15 However, single nucleotide variant analysis uncovered a relativel

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

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

18 rated approach including characterization of single nucleotide variants and CNVs in a large number of

19 We assessed single nucleotide variants and copy number alterations i

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

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

22 Although devoid of recurrent single nucleotide variants and focal copy number aberrat

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

24 ng has been primarily used for investigating single nucleotide variants and indels, it has the potent

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

26 t individual exomes contain several thousand single nucleotide variants and insertions/deletions, it

27 als, the AGRP contains >12 M high-confidence single nucleotide variants and short indels, of which 1

28 Unlike single nucleotide variants and small indels, many struct

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

30 ns discovery model to each family and select single nucleotide variants and small insertions and dele

31 function are very important for analysis of single nucleotide variants and their prioritization for

32 -exposed tumours showed increased numbers of single nucleotide variants and we observed mutations (H3

33 stigated patterns of neutral and deleterious single-nucleotide variants and alleles between individua

34 C scores for all 8.6 billion possible human single-nucleotide variants and enable scoring of short i

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

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

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

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

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

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

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

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

43 ions by identifying previously characterized single-nucleotide variants and small insertions or delet

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 ML, we show that the total number of somatic single-nucleotide variants and the percentage of chemoth

48 l of an individual's genetic variants (e.g., single nucleotide variants) and transcript isoforms (tra

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

50 tructural variants, copy number alterations, single-nucleotide variants, and small insertions and del

51 Over 1,900 transcribed single nucleotide variants (approximately 15% of all tra

52 med the systems-based design of a customized single nucleotide variant array.

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

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

55 in cases an excess of de novo nonsynonymous single-nucleotide variants as well as a higher prevalenc

56 olymorphisms, copy number variants, and rare single nucleotide variants, as well as rare de novo vari

57 The majority of single-nucleotide variants associated with each of the s

58 Single nucleotide variants at sites with potential regul

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

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

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

62 ealthy subjects (controls) and then filtered single nucleotide variants by incorporating association

63 We identified a nonsynonymous single-nucleotide variant (c.548G-->A, p.Arg183Gln) in G

64 A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ

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

66 into account systematic biases in alignment, single nucleotide variant calling, and sequencing depth

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

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

69 ad an average of 192 non-synonymous, somatic single-nucleotide variants, compared with only six in tu

70 Three nonsynonymous recurrent single nucleotide variants contributed to the ARHGEF10 s

71 cted by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related

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

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

74 tify small gene-disruptive deletions, detect single-nucleotide variants, define breakpoints of unequa

75 % recall of cancer genes impacted by somatic single-nucleotide variants, depending on the method).

76 to have 100% sensitivity and specificity for single nucleotide variant detection.

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

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

79 s were not covered to accepted standards for single nucleotide variant discovery.

80 hile exome sequencing is readily amenable to single-nucleotide variant discovery, the sparse and nonu

81 The rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for

82 We identified 494 single nucleotide variants encompassing 105 kb of sequen

83 a new method, estimation by read depth with single-nucleotide variants (ERDS), and use various appro

84 orest, to prioritize candidate nonsynonymous single nucleotide variants for a specific type of diseas

85 of software pipelines available for calling single nucleotide variants from genomic DNA but, no comp

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

87 lve faster than other regions with regard to single-nucleotide variants, gene/exon duplications and d

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

89 But whereas de novo single nucleotide variants have been identified in affec

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

91 Illumina data, ALE recovers 215 of 222 (97%) single nucleotide variants in a training set from a GC-r

92 ased load of de novo copy number variants or single nucleotide variants in individuals with neurodeve

93 However, identification of single nucleotide variants in leukemic clones still requ

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

95 We identified 3 novel, nonsynonymous single nucleotide variants in the MRPL3, DNAJC13, and OF

96 emonstrate that multiple independent de novo single nucleotide variants in the same gene among unrela

97 We validated 530 somatic single nucleotide variants in this tumour, including one

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

99 , suggests that the impact of any individual single-nucleotide variant in this disease is small, and

100 erefore, we classified actionable pathogenic single-nucleotide variants in 500 European- and 500 Afri

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

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

103 Single-nucleotide variants in the BACH2 locus are associ

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

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

106 Using SLRH, we phase 99% of single-nucleotide variants in three human genomes into l

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

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

109 together, we identified more than 13 million single-nucleotide variants, indels, and structural varia

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

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

112 out prior knowledge of the fusion partners), single nucleotide variants, insertions, deletions and co

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

114 ly identified somatic alterations, including single-nucleotide variants, insertions and deletions, co

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

116 ted that rare haplotypes may tag rare causal single-nucleotide variants, making SNP-based rare haplot

117 s, exon counts, fusion candidates, expressed single nucleotide variants, mapping statistics, visualiz

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

119 We associated single-nucleotide variants near COMMD1 with reduced expr

120 Removal of false positive single nucleotide variants not phased by multiple LFR ha

121 sands of nonsynonymous (amino acid altering) single nucleotide variants (nSNVs) of protein-coding DNA

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

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

124 Hundreds of nonsynonymous single nucleotide variants (nsSNVs) have been identified

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

126 ing the disruptive impacts of non-synonymous single nucleotide variants (nsSNVs) on human health and

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

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

129 A synonymous single nucleotide variant of the DeltaF508 CFTR (Ile507A

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

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

132 ained the capacity to precociously recognize single-nucleotide variants of chi.

133 Neither variant was observed in databases of single-nucleotide variants or in 634 chromosomes from et

134 ground strains, identifying an average of 11 single nucleotide variants per clone.

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

136 ate mutations from an average of -3500 to 35 single-nucleotide variants per chromosome.

137 This program produces somatic single-nucleotide variant predictions with significantly

138 Single nucleotide variants represent a prevalent form of

139 The rare single nucleotide variant rs149253049 in ADAMTS9 shared

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

141 ned against 44 sequences of different target single-nucleotide variants showed between a 200- and 3,0

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

143 Single nucleotide variant (SNP) analysis was performed u

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

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

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

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

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

149 Single nucleotide variant (SNV) detection procedures are

150 ieving 93% sensitivity and 85% precision for single nucleotide variant (SNV) detection.

151 sequenced exomes and a set of gold-standard single nucleotide variant (SNV) genotype calls for each

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

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

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

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

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

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

158 An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes

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

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

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

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

163 site that is generated by a common germline single-nucleotide variant (SNV) in our experiment.

164 nes RNA-seq datasets to find reads that span single-nucleotide variant (SNV) loci and nearby splice j

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

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

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

168 Literature and database mining of single nucleotide variants (SNVs) affecting 15 cancer ge

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

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

171 on and analysis of sequence variants such as single nucleotide variants (SNVs) and InDels.

172 s, we developed the ANNOVAR tool to annotate single nucleotide variants (SNVs) and insertions/deletio

173 focus of studies of sequence variation is on single nucleotide variants (SNVs) and large structural v

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

175 crucial to determining the full spectrum of single nucleotide variants (SNVs) as well as structural

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

177 Single nucleotide variants (SNVs) called from OS-Seq dat

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

179 wing these predictions identified the causal single nucleotide variants (SNVs) for several allele-spe

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

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

182 Single nucleotide variants (SNVs) identified in cancer g

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

184 We detected hundreds of single nucleotide variants (SNVs) in every clone, with a

185 ant knowledge pertaining to the role of rare single nucleotide variants (SNVs) in rare disorders and

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

187 We identified multiple single nucleotide variants (SNVs) in the TP53 3' untrans

188 allele frequency, and an increased number of single nucleotide variants (SNVs) included in the test a

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

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

191 quenced, yielding millions of non-synonymous single nucleotide variants (SNVs) of possible relevance

192 Additional single nucleotide variants (SNVs) on the array identifie

193 We detected an average of 0.1 somatic single nucleotide variants (SNVs) per 106 nucleotides (r

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

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

196 uman and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate a

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

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

199 Single nucleotide variants (SNVs) were used to reconstru

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

201 We identified 57 non-synonymous single nucleotide variants (SNVs) which were found exclu

202 The library contains over 800,000 unique single nucleotide variants (SNVs) with an average of eig

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

204 hexamers, or the full exon with all possible single nucleotide variants (SNVs), and measure strong ef

205 performed targeted sequencing of a panel of single nucleotide variants (SNVs), deletions, and IgH se

206 n read counting, identification of expressed single nucleotide variants (SNVs), detection of fusion t

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

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

209 clinical information were genotyped using 25 single nucleotide variants (SNVs), including five SNVs w

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

211 Single nucleotide variants (SNVs), particularly loss-of-

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

213 Although most analyses have focused on single nucleotide variants (SNVs), studies have begun to

214 red, the estimated rates of the evolution of single nucleotide variants (SNVs), summed tandem-repeat

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

216 We identified 2719 single nucleotide variants (SNVs).

217 quenced human genomes, revealing millions of single nucleotide variants (SNVs).

218 Reference-based mapping was used to identify single nucleotide variants (SNVs).

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

220 and inferred the age of 1,146,401 autosomal single nucleotide variants (SNVs).

221 forms, as well as more accurate detection of single nucleotide variants (SNVs).

222 nd exponential growth in the number of known single nucleotide variants (SNVs).

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

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

225 0 Genomes Project has revealed multitudes of single nucleotide variants (SNVs).

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

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

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

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

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

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

232 onsensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/d

233 cile evolutionary rates, paired samples </=2 single-nucleotide variants (SNVs) apart were considered

234 the attenuated replicates revealed 41 to 95 single-nucleotide variants (SNVs) at 2% or higher freque

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

236 We compared single-nucleotide variants (SNVs) between the isolates,

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

238 We generated over 100,000 single-nucleotide variants (SNVs) by sequencing restrict

239 * We generated over 100,000 single-nucleotide variants (SNVs) by sequencing restrict

240 us alleles and the 72 validated heterozygous single-nucleotide variants (SNVs) from 512 Mb of autozyg

241 classified potentially actionable pathogenic single-nucleotide variants (SNVs) in all 4300 European-

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

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

244 We present a FISH-based method for detecting single-nucleotide variants (SNVs) in exons and introns o

245 10(-4)) and an excess of private deleterious single-nucleotide variants (SNVs) in female compared to

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

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

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

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

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

251 all tumor time points also shared 10 common single-nucleotide variants (SNVs) on WGS comprising shar

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

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

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

255 There are ~35 known single-nucleotide variants (SNVs) that explain only ~10%

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

257 Single-nucleotide variants (SNVs) were found in 12/12 FL

258 We identified 1,058-1,808 heterozygous single-nucleotide variants (SNVs), but no copy-number va

259 uces a broad spectrum of mutations including single-nucleotide variants (SNVs), chromosomal deletions

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

261 respect to sequence coverage and calling of single-nucleotide variants (SNVs), insertions and deleti

262 We identified 35 de novo single-nucleotide variants (SNVs), small indels, deletio

263 However, single-nucleotide variants (SNVs), small insertions/dele

264 We identified over 500,000 single-nucleotide variants (SNVs), the majority of which

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

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

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

268 3 mutations and a relatively large number of single-nucleotide variants (SNVs; average of 11.2 per me

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

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

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

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

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

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

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

276 We have developed PVAAS, a tool to identify single nucleotide variants that associated with aberrant

277 1 variant) was 0.056 or 0.040 if only those single nucleotide variants that had previously been repo

278 on of smaller intragenic mutations including single-nucleotide variants that are not accessible even

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

280 We found over 21 million single-nucleotide variants that contribute to a 1.75-fol

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

282 could permit the introduction of beneficial single-nucleotide variants to ameliorate symptoms.

283 argue that STR variants are more likely than single-nucleotide variants to have epistatic interaction

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

285 e, Shimmer, which accurately detects somatic single-nucleotide variants using statistical hypothesis

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

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

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

289 Up to 97% of the heterozygous single nucleotide variants were assembled into long hapl

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

291 All other nonsynonymous single-nucleotide variants were distinct between tumors

292 These single-nucleotide variants were generated concomitantly

293 Shared, prenatal, coding-region single-nucleotide variants were limited to the putative

294 This approach identified single nucleotide variants with frequencies from 0.5% to

295 matic variant-calling algorithms to identify single nucleotide variants with higher sensitivity and a

296 The frequency of all single nucleotide variants with in silico evidence of pa

297 and deletions followed a similar pattern to single-nucleotide variants, with some notable exceptions

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 More than 17% of single-nucleotide variants within duons directly alter T