ライフサイエンスコーパス: insertion-deletion

1 diverse set of genetic changes (mismatches, insertions, deletions).

2 single-nucleotide polymorphisms and an 11-bp insertion-deletion.

3 deletion (Del Ex3-4) is likely to be a large insertion-deletion.

4 matic mutation, isotype switching, and codon insertion/deletion.

5 sign integer weights for match, mismatch and insertion/deletion.

6 rising multiple nearby base substitutions or insertion-deletions.

7 small +1 insertion/deletions than larger +4 insertion/deletions.

8 onventional PCRs directed at 11 SNPs and two insertion/deletions.

9 leotide variants and enable scoring of short insertions-deletions.

10 se substitutions, strand slippage, and small insertions/deletions.

11 mal rearrangement of syntenic blocks and DNA insertions/deletions.

12 el to search for instances of the motif with insertions/deletions.

13 Core editing complexes and their U-insertion/deletion activities are relatively well charac

14 20 missense/nonsense mutations as well as 60 insertions/deletions affecting 73 different genes ( appr

15 n important role for rs2004640 and the CGGGG insertion/deletion, along with type I IFNs, in regulatin

16 ated approach combining mutation profile and insertion/deletion analyses, we identified nine novel li

17 nome-wide copy number analysis identified 51 insertion deletions and 440 copy number variants > 1 kb.

18 copy number variation (CNV) which comprises insertion, deletion and duplication of genomic sequence,

19 ntly formed in living cells due to erroneous insertion, deletion and misincorporation of bases.

20 nments allowing up to three errors including insertion, deletion and mismatch.

21 inear space and supports quasi-constant time insertion, deletion and movement (i.e. updates) of atoms

22 nables researchers to additionally determine insertion, deletion and recombination events as well as

23 tain robust maximum-likelihood estimates for insertion, deletion and substitution error rates (4.9%,

24 onserved regions exhibiting reduced rates of insertion, deletion and substitution mutations.

25 accurate and efficient multiplexing of small insertion-deletions and single-nucleotide variants chara

26 are prone to misalignment and hence to both insertion/deletion and endoduplication events, and that

27 homeologous regions with only a single gene insertion/deletion and local tandem duplications differi

28 Recently, somatic substitution, insertion/deletion and rearrangement patterns, or 'mutat

29 Insertion/deletion and single nucleotide polymorphisms a

30 Finally, we model both insertion/deletion and substitution sequencing errors us

31 ur different missense variants, one in-frame insertion/deletion and two conserved splice site variant

32 nd recruited Mlh1-Pms1 on +1, +2, +3, and +4 insertion/deletions and CC, AA, and possibly GG mispairs

33 mostly the mmu-let-7 family display internal insertion/deletions and substitutions when compared to p

34 the effects of multiple mutations, including insertions, deletions and alternative splicing events, i

35 usion partners), single nucleotide variants, insertions, deletions and copy number changes.

36 accumulates unbalanced rearrangements (novel insertions, deletions and duplications) more rapidly.

37 luding not only rearrangements but also gene insertions, deletions and duplications.

38 nges including gene and genome duplications, insertions, deletions and gene order rearrangements.

39 ta, such as single nucleotide polymorphisms, insertions, deletions and genome-wide association studie

40 generation data to quantify and characterize insertions, deletions and homologous recombination.

41 ation on an intermediate scale--particularly insertions, deletions and inversions affecting from a fe

42 Structural variants, including duplications, insertions, deletions and inversions of large blocks of

43 nces between sequences reflect the impact of insertions, deletions and mutations.

44 l variation, including copy number variants, insertions, deletions and other structural variants (SVs

45 arget cleavage resulted in a wide variety of insertions, deletions and point mutations.

46 tations, including amino acid substitutions, insertions, deletions and point mutations.

47 e major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 3

48 storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together

49 op SEQuel, a tool that corrects errors (i.e. insertions, deletions and substitution errors) in the as

50 ng the edit-distance (i.e. minimum number of insertions, deletions and substitutions) between short D

51 genome assembly, and make over 800 changes (insertions, deletions and substitutions) to refine this

52 and knock-ins, as well as single-nucleotide insertions, deletions and substitutions, in Pseudomonas

53 L979F Pol zeta in vitro include single-base insertions, deletions and substitutions, with the highes

54 vely, which recognize base-base mispairs and insertions/deletions and initiate the repair process.

55 Differential gene amplification, insertions/deletions and inversions appeared to be the c

56 difficulty in assessing the impact of small insertions/deletions and large structural variants.

57 ainst a reference genome to call SNPs, short insertions/deletions and structural variations.

58 e polymorphisms, simple sequence repeats and insertion/deletions) and location (exon and intron seque

59 variations (single nucleotide variations and insertion/deletions) and to help guide and summarize gen

60 a simple and versatile method for generating insertion, deletion, and point mutations on chromosomal,

61 on to precise excision, several "suppressor" insertion, deletion, and point mutations restore the wil

62 GPCRs except GABA(B) receptor, in the CaR by insertion, deletion, and site-directed mutagenesis of sp

63 ntinuous-time Markov chain model composed of insertion, deletion, and substitution events.

64 ally validated all loss-of-function, inframe insertion/deletion, and missense variants predicted as d

65 s include >35,000 point mutations, 446 small insertion/deletions, and >6,000 genes affected by copy n

66 ges the ability of current methods to detect insertions, deletions, and copy-number variations betwee

67 e TGF-beta superfamily is dictated by unique insertions, deletions, and disulfide bonds rather than a

68 size, (retro)transposable element mobility, insertions, deletions, and epigenome restructuring.

69 DNA rearrangements, including insertions, deletions, and inversions, control gene expr

70 an be distinguished by the unique pattern of insertions, deletions, and point mutations in each copy.

71 e of software tools to pinpoint locations of insertions, deletions, and rearrangements.

72 Insertions, deletions, and residue-to-residue mutations

73 om no response, to high levels of mutations, insertions, deletions, and truncations.

74 ite instability, increased number of somatic insertions/deletions, and altered mutation signatures in

75 t increases in base substitutions, small DNA insertions/deletions, and gross chromosomal rearrangemen

76 bination system, allow for selection of tolC insertions/deletions anywhere on the E. coli chromosome

77 outcome, whereas missense, splice site, and insertion/deletions are less reliably associated with ag

78 Single base substitutions (SBSs) and insertions/deletions are critical for generating populat

79 Primer sequences flanking polymorphic insertions/deletions are produced as output.

80 Although insertions/deletions are thought to be rare in microbial

81 Deleted alleles also typically include small insertion/deletions at predicted deletion junctions.

82 ts, allowing a small number of mismatches or insertion/deletions between the two sequences.

83 The number of SNPs and insertions/deletions between sequences of the two Montan

84 ximately 98% of differences (including large insertion-deletions) between pairs of strains from three

85 rating a broader range of variations such as insertions/deletions, block substitutions, IUPAC codes s

86 accurate estimates on gene gains/losses (or insertions/deletions), but also reduces any concern of a

87 the recognition of base-base mismatches and insertions/deletions by bacterial MutS or eukaryotic MSH

88 Other features include analyzing insertions/deletions, calculating diversity statistics,

89 endipitous mouse mutant in which a transgene insertion/deletion caused severe polycystic kidney disea

90 tform that detects nucleotide substitutions, insertions/deletions, chromosomal translocations, copy n

91 qual in frequency to deletions, and compound insertion-deletions comprised only 0.1% of all events.

92 7:H7 serotype based on a conserved signature insertion/deletion (CSI) located in the ybiX gene using

93 identify a series of novel set of mid-range insertion/deletion detection that were confirmed by targ

94 that has mainly been used for point or small insertion/deletion detection.

95 al analysis revealed a predominance of small insertion/deletion, duplication, and base substitution m

96 omirskiidae mitochondrial genomes are due to insertion/deletion/duplication of these elements rather

97 numts, we quantified the frequency of small insertions, deletions, duplications, and instances of mi

98 to identify genomic rearrangements, such as insertions, deletions, duplications, and inversions, com

99 A editing core complex (RECC) catalyze the U-insertion/deletion editing cascade to generate open read

100 alled the editosome, which is required for U-insertion/deletion editing of mitochondrial mRNAs.

101 gen, most mRNAs are internally modified by U-insertion/deletion editing while guide RNAs and rRNAs ar

102 ochondrial pre-mRNAs undergo massive uridine insertion/deletion editing, which creates open reading f

103 the majority of mRNAs undergo massive uracil-insertion/deletion editing.

104 or specificity that is highly biased towards insertion-deletion errors.

105 guishes length variants from noise including insertion/deletion errors in homopolymer runs by address

106 zeta is relatively accurate for single base insertion/deletion errors.

107 tutions, too few insertions, and implausible insertion-deletion-event histories.

108 ated from one another by only 49 SNPs and 11 insertion-deletion events (indels) in the core genome.

109 single nucleotide variants (SNVs) and 79,529 insertion-deletion events that result in a total of 3.3

110 y of de novo copy number variants (CNVs) and insertion/deletion events (indels) is significantly elev

111 ingle nucleotide polymorphisms (SNPs) and 86 insertion/deletion events (indels).

112 n genomic regions that are prone to repeated insertion/deletion events and were responsible for an un

113 More than one-third of the insertion/deletion events occurred in genic regions, and

114 emonstrate SLOPE's ability to rapidly detect insertion/deletion events of various sizes as well as tr

115 million rare single-nucleotide variants and insertion/deletion events, of which ~176,000 are predict

116 on is likely to hold only for similar simple insertion/deletion events.

117 in CYP19A1 (intron 4 [TTTA]n, intron 4 [TCT] insertion/deletion, exon 10 C/T) are related to some hor

118 t a nearby single nucleotide polymorphism or insertion/deletion (false discovery rate = 10%).

119 entrocyte subtype had high TP53 mutation and insertion/deletion frequencies and expressed LMO2, CD58,

120 ytical results for point mutations and small insertions/deletions from 3,281 tumours across 12 tumour

121 ic assemblies, including single-base errors, insertions/deletions, genome rearrangements and chimeric

122 number variations, mRNA and genomic SNP and insertion-deletion genotypes, or the expression of appro

123 MutSbeta (MSH2-MSH3) mediates repair of insertion-deletion heterologies but also triggers triple

124 Most genetic studies have focused on an Alu insertion/deletion (I/D) polymorphism in the ACE gene (D

125 (-675 4G/5G deletion/insertion) and tPA (Alu insertion/deletion [I/D]), are associated with strokes,

126 t preferentially process base-base and small insertion/deletion (ID) mispairs, respectively, despite

127 million single-nucleotide polymorphisms and insertions/deletions identified by whole-genome sequenci

128 recognition of DNA mismatches or nucleotide insertions/deletions (IDLs) by MutS and MutS homologues.

129 d with ADCME by identifying a novel in-frame insertion/deletion in 2 Italian families.

130 and combinatorial, subject to a single-unit insertion/deletion in a 5' flanking dinucleotide repeat

131 One novel SNP and a novel insertion/deletion in CAV2 were identified; rs13221869 i

132 gonococcal MMC repairs mismatches and small insertion/deletions in DNA and also affects the recombin

133 of these fast evolving effectors through (i) insertion/deletions in loop regions between alpha-helice

134 The presence of insertion/deletions in promoters often influences the pr

135 s is suggested by the high prevalence of TTN insertion/deletions in the 1000 Genomes Project cohort.

136 The gene CDKN1B is inactivated by small insertions/deletions in 8% of patients with SI-NET sugge

137 ch repair corrects mispaired bases and small insertions/deletions in DNA.

138 s and by eight to 22 SNPs and 10 to 21 short insertions/deletions in noncoding regions.

139 sis revealed four nonsynonymous SNPs and two insertions/deletions in the susceptible allele of Las2,

140 variants (single nucleotide polymorphisms or insertions/deletions) in the ADAMTS13 gene.

141 of single nucleotide polymorphisms (SNPs) or insertion-deletion (indel) alleles at genomic loci in mu

142 slippage is a structural mechanism by which insertion-deletion (indel) mutations are introduced duri

143 The R genes tested to date segregate for insertion-deletion (indel) polymorphisms where susceptib

144 e the value of our approach by examining the insertion-deletion (indel) process in the enolase gene a

145 ence dissimilarity corresponds with the fast insertion-deletion (indel) rates observed in short monon

146 Structural and insertion-deletion (indel) variants have received consid

147 we show that each of 12 base substitution, 2 insertion/deletion (indel) and 6 rearrangement mutationa

148 nymous changes per gene and more than 16,000 insertion/deletion (indel) and copy number changes, prov

149 ective single-nucleotide polymorphism (SNP), insertion/deletion (INDEL) and copy number variation (CN

150 otgun sequencing (WGS) data, such as SNP and insertion/deletion (INDEL) calling, can also be achieved

151 report a phylogenetic analysis of genomewide insertion/deletion (indel) data, an approach conventiona

152 Relative polymerase accuracy for insertion/deletion (indel) errors within 2-3 unit repeat

153 ukaryotic cells, resulting in frame-shifting insertion/deletion (indel) mutations and subsequent prot

154 Rates for insertion/deletion (indel) mutations have been found to

155 tor, was developed to automatically identify insertion/deletion (indel) polymorphisms as well as inde

156 70-mer oligonucleotide elements representing insertion/deletion (indel) polymorphisms between the Ara

157 SNPs by imputation P-value revealed a 30 bp insertion/deletion (indel) variant that was significantl

158 single-nucleotide variants (SNVs) and short insertion/deletion (indel) variants from deep whole-geno

159 atalog of millions of single nucleotides and insertion/deletion (INDEL) variants of the human populat

160 higher and lower risk haplotypes revealed an insertion/deletion (indel) with a net addition of 830 bp

161 s), which mainly differ in one 18-nucleotide insertion/deletion (indel).

162 le-nucleotide substitutions (SNP/SNV), short insertions/deletions (INDEL) and structural variants/cop

163 es in relative frequency of transversion and insertion/deletion [indel] mutations).

164 ide variety of structural variants including insertion-deletions (indels), inversions and translocati

165 y single nucleotide polymorphisms (SNPs) and insertion-deletions (indels), perform SNP annotations an

166 landscape of quiescence is characterized by insertion/deletion (indels) accumulating as fast as sing

167 tect single nucleotide polymorphisms (SNPs), insertion/deletions (indels) by comparing high-throughpu

168 eotide polymorphisms (SNPs) and 48 single-nt insertion/deletions (indels) from the data set.

169 en single nucleotide variations (SNVs) and 2 insertion/deletions (INDELs) were identified; these muta

170 were abundant; 1078 SNPs (1/45.7 bp) and 178 insertions-deletions (INDELs) (1/277.0 bp) were identifi

171 We found 20 million SNPs and 1.5 million insertions-deletions (indels).

172 , single-nucleotide polymorphisms (SNPs) and insertions/deletions (indels) can result in altered on-t

173 single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 8

174 Small insertions/deletions (INDELs) of </=21 bp comprise 18% o

175 We obtained a listing of all SNPs and insertions/deletions (indels) present in SPRET/Ei from t

176 amage, often result in unintended nucleotide insertions/deletions (indels) via mutagenic nonhomologou

177 ingle nucleotide polymorphisms (SNPs) and 25 insertions/deletions (indels) were detected in HvP5CS1 a

178 such as single-nucleotide polymorphisms and insertions/deletions (indels), and by sequencer errors m

179 tologic malignancies includes substitutions, insertions/deletions (indels), copy number alterations (

180 er, single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants (CNV

181 orphisms (SNPs), 58,085 small and 2315 large insertions/deletions (indels), with highly correlated ge

182 mall nucleotide polymorphisms (SNPs) and 172 insertions/deletions (indels).

183 ave predicted 4314 GRs including large-scale insertions, deletions, inversions and translocations bas

184 ble misaligned sequence reads for predicting insertions, deletions, inversions, tandem duplications a

185 eral thousand single nucleotide variants and insertions/deletions, it remains a challenge to analyze

186 ed mutations such as substitutions and small insertion/deletions, large structural alterations and co

187 y model with an empirically common power-law insertion/deletion length distribution.

188 te that, following the recognition of a 3-bp insertion-deletion loop mismatch, the MMR machinery sear

189 roduplex, containing either a mismatch or an insertion/deletion loop of up to four nucleotides.

190 cleotides whereas MutSbeta recognizes longer insertion-deletion loops (IDLs) with 1 to 15 unpaired nu

191 In Saccharomyces cerevisiae, repair of insertion/deletion loops is carried out by Msh2-Msh3-med

192 s in MMR, Msh2-Msh6 binds mispairs and small insertion/deletion loops, and Msh2-Msh3 binds larger ins

193 n/deletion loops, and Msh2-Msh3 binds larger insertion/deletion loops.

194 egrity by resolving base pair mismatches and insertion/deletion loops.

195 variation at 1327 nuclear microsatellite and insertion/deletion markers.

196 of the 8 possible base:base mispairs, the +1 insertion/deletion mispair, and to a low level on the +2

197 o a low level on the +2 but not the +3 or +4 insertion/deletion mispairs and not on the CC mispair.

198 Thus, recognition of small insertion/deletion mispairs by Msh3 appears to require a

199 Msh2-Msh6 heterodimer and the recognition of insertion/deletion mispairs by the Msh2-Msh3 heterodimer

200 s involving the recognition of base-base and insertion/deletion mispairs by the Msh2-Msh6 heterodimer

201 with the DNA conformations induced by small insertion/deletion mispairs than with those induced by l

202 ed defects in repair of both small and large insertion/deletion mispairs, whereas the second class ca

203 s caused defects only in the repair of small insertion/deletion mispairs; mutations of the first clas

204 onary models compatible with the affine-cost insertion/deletion model used in standard pairwise seque

205 This paper discusses progress in the area of insertion-deletion models, in view of recent work by Eza

206 Here, we review the mechanism of uridine insertion/deletion mRNA editing in kinetoplastid protist

207 However, guide RNAs (gRNAs) that direct U-insertion/deletion mRNA editing in mitochondria of trypa

208 t-transcriptionally and requires extensive U-insertion/deletion mRNA editing.

209 Aside from nucleotide substitutions and insertion/deletions, multiple IS6110 transposition event

210 Analysis of a slr1270 insertion deletion mutant and respective wild-type revea

211 Microarray analyses indicated that insertion/deletion mutants in spd-sr37 and ccnA exerted

212 Patients with KIT exon 11 deletion or insertion-deletion mutation had better RFS when allocate

213 Wild-type spores carrying an insertion-deletion mutation in this cistron germinated n

214 After identifying an insertion-deletion mutation, the remaining 92 families w

215 Each gene has a coding sequence insertion/deletion mutation within the SC species that p

216 rozygous for a GAA expansion and a FXN point/insertion/deletion mutation.

217 rk, these genes were cloned, and chromosomal insertion-deletion mutations inactivating them were obta

218 utations were further grouped as deletion or insertion-deletion mutations, substitution mutations, in

219 Spontaneously arising and MMS-induced insertion/deletion mutations and large rearrangements we

220 identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S

221 Four discrete insertion/deletion mutations leading to frame shifts and

222 BRCA1 null breast tumors, there are specific insertion/deletion mutations located close to R-loop-med

223 were heterozygous missense or small in-frame insertion/deletion mutations occurring within one of the

224 We recently identified 2 patients with novel insertion/deletion mutations predicted to result in mRNA

225 nonymous single nucleotide polymorphisms and insertion/deletion mutations when our Weiss (n = 4) and

226 ve genomes, including some with nonsense and insertion/deletion mutations.

227 g schemes in mouse embryos, including indel (insertion/deletion) mutations, point mutations, large de

228 ct the genome in a variety of ways, creating insertions, deletions, new splice sites or gene expressi

229 Using hidden Markov models on insertion, deletion, nucleotide substitution, and micros

230 SBSs and insertions/deletions occur predominantly at the first an

231 47 cases (10%): 46 frameshift mutations with insertion/deletion of one to 28 base pairs in exon 7 (n

232 Multiple substitutions and insertions/deletions of the nucleotide bases in the sequ

233 ) of the new model reveal fast rates of gene insertions/deletions on recent branches, suggesting a fa

234 Comprehensive descriptions of large insertion/deletion or segmental duplication polymorphism

235 end-joining (NHEJ) resulting in nonspecific insertions, deletions or other mutations (indels).

236 tructures emerge in evolution as a result of insertions, deletions or shuffling of fragments of under

237 an promote efficient introduction of desired insertions, deletions or substitutions at or near the cu

238 typic and genotypic tests were attributed to insertions/deletions or point mutations identified in O-

239 sent single nucleotide polymorphisms but are insertions/deletions originating from DNA replication sl

240 Ninety-nine tagSNPs and one tag insertion-deletion polymorphism were sufficient to predi

241 The frequent ACE insertion/deletion polymorphism (I/D) is, albeit inconsi

242 tudy tested the hypothesis that the ACE gene insertion/deletion polymorphism associates with AF recur

243 We demonstrate that a MIR148A insertion/deletion polymorphism associates with its own

244 In 1990, we identified an insertion/deletion polymorphism in ACE that functions as

245 T-2) gene variants rs3217318, a 19-base-pair insertion/deletion polymorphism in the promoter region,

246 Within this genomic interval, an insertion/deletion polymorphism of 36 bp in the coding r

247 xysmal (59%) or persistent (41%) AF, the ACE insertion/deletion polymorphism was genotyped using poly

248 ells expressing TRBV4-3 because of a 21.5-kb insertion/deletion polymorphism, but these individuals r

249 ts derived from short tandem repeats (STRs), insertion deletion polymorphisms (indels) and single nuc

250 e single-nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (indels) within bovine

251 e single nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (indels) within bovine

252 orphisms (SNPs) or approximately 0.2 million insertion-deletion polymorphisms.

253 include single-nucleotide polymorphisms and insertion-deletion polymorphisms.

254 000 is determined by coding, regulatory, and insertion/deletion polymorphisms at five chromosomal loc

255 We report here that small insertion/deletion polymorphisms in the promoter and 5'

256 escape was associated with substitutions and insertion/deletion polymorphisms in the V1 and V4 domain

257 p populations revealed that neither the IRGM insertion/deletion polymorphisms nor the CNV was associa

258 nsynonymous single nucleotide polymorphisms, insertion/deletion polymorphisms, or splice site alterin

259 ts included single-nucleotide polymorphisms, insertions/deletions, polynucleotide tracts, and differe

260 heless often edited with inversions or small insertion/deletions produced at CRISPR recognition sites

261 s with SCWRL and a loop-modeling program for insertion-deletion regions with user-selected sequence s

262 produces full atomic level models (including insertion/deletion regions) of protein complexes as long

263 coverage included 218 of 247 SNPs, 10 of 11 insertion/deletion regions, and the repeat elements IS10

264 f single nucleotide polymorphisms (SNPs) and insertion/deletions resulting in amino acid changes in t

265 nit RNA editing complexes catalyze uridylate insertion/deletion RNA editing directed by complementary

266 Uridine insertion/deletion RNA editing in kinetoplastid mitochon

267 d in processing events as diverse as uridine insertion/deletion RNA editing in mitochondria of trypan

268 U-insertion/deletion RNA editing in the single mitochondri

269 Uridine insertion/deletion RNA editing is a unique form of postt

270 Uridine insertion/deletion RNA editing is an essential process i

271 ub-Saharan Africa, depends on a remarkable U-insertion/deletion RNA editing process in its mitochondr

272 UTase 2 (RET2) play central roles in uridine insertion/deletion RNA editing, which is an essential pa

273 imple extension of the general "substitution/insertion/deletion (SID) model".

274 There are strain-specific rearrangements, insertions, deletions, single nucleotide polymorphisms,

275 tion of a non-Watson-Crick base-pair or base insertion/deletion site in DNA, and its interactions wit

276 ernative methods for all cloning procedures (insertions, deletions, site-directed mutagenesis and sub

277 The GCMC water insertion/deletion steps were alternated with Molecular

278 A alignment, including alternative splicing, insertions, deletions, substitutions, sequencing errors

279 notate single nucleotide variants (SNVs) and insertions/deletions, such as examining their functional

280 ore critical for the recognition of small +1 insertion/deletions than larger +4 insertion/deletions.

281 on mispairs than with those induced by large insertion/deletions that are intrinsically bent and stra

282 e most desired mutations, i.e., out-of-frame insertions/deletions that disrupt genes.

283 , disrupt canonical splice sites, or lead to insertions/deletions that shift frame.

284 derived from the sequence alignment without insertions/deletions, the outer carboxylates did not fac

285 are variants and more complex variants (e.g. insertions, deletions), their role in disease is as yet

286 Plastid-LCGbase facilitates gene variation (insertion-deletion, translocation and rearrangement) and

287 The causal variant was identified: an insertion-deletion variant, GCTGT-->A (in which A is the

288 xon 1B splice site variant, a 30-bp in-frame insertion/deletion variant of exon 6 that alters a proli

289 esults were obtained for 10,641,224 SNPs and insertion-deletion variants with minor allele frequencie

290 enetic variants (99%-100%) but low for small insertion/deletion variants (53%-59%).

291 ed a strong enrichment of very low-frequency insertion/deletion variants, so far under-investigated,

292 30 single-nucleotide polymorphisms and four insertion/deletion variants.

293 ified for single nucleotide polymorphism and insertion-deletion variation.

294 ws biologists to discover potential point or insertion-deletion variations from cDNA-genome alignment

295 amily used for linkage exclusion testing, an insertion-deletion was found that disrupts exon 1.

296 40, rs10954213, and rs10488631 and the CGGGG insertion/deletion were genotyped in these patients.

297 ssense, predicted splice site mutations, and insertion/deletions were classified as "other." We compa

298 single nucleotide polymorphisms, as well as insertions/deletions which can be used to rapidly develo

299 calcium channels aligned with NavAb without insertions/deletions, which suggests that NavAb is a pro

300 ong these, 70% are nonsense, splice site, or insertions/deletions with frameshift for which no domina