コーパス検索結果 (1語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 diverse set of genetic changes (mismatches, insertions, deletions).
2 single-nucleotide polymorphisms and an 11-bp insertion-deletion.
3 sign integer weights for match, mismatch and insertion/deletion.
4 matic mutation, isotype switching, and codon insertion/deletion.
5 ts and creates translatable mRNAs by uridine insertion/deletion.
6 , which must be remodeled to promote uridine insertion/deletion.
7 rising multiple nearby base substitutions or insertion-deletions.
8 ns allowing for diversity of recognition via insertion/deletions.
9 small +1 insertion/deletions than larger +4 insertion/deletions.
10 onventional PCRs directed at 11 SNPs and two insertion/deletions.
11 e sequencing to identify repeat elements and insertion/deletions.
12 leotide variants and enable scoring of short insertions-deletions.
13 se substitutions, strand slippage, and small insertions/deletions.
14 mal rearrangement of syntenic blocks and DNA insertions/deletions.
15 le-nucleotide variants (SNVs) or single-base insertions/deletions, 3 siblings harbored a heterozygous
17 20 missense/nonsense mutations as well as 60 insertions/deletions affecting 73 different genes ( appr
18 n important role for rs2004640 and the CGGGG insertion/deletion, along with type I IFNs, in regulatin
19 ated approach combining mutation profile and insertion/deletion analyses, we identified nine novel li
20 nome-wide copy number analysis identified 51 insertion deletions and 440 copy number variants > 1 kb.
21 copy number variation (CNV) which comprises insertion, deletion and duplication of genomic sequence,
24 inear space and supports quasi-constant time insertion, deletion and movement (i.e. updates) of atoms
25 nables researchers to additionally determine insertion, deletion and recombination events as well as
26 tain robust maximum-likelihood estimates for insertion, deletion and substitution error rates (4.9%,
30 accurate and efficient multiplexing of small insertion-deletions and single-nucleotide variants chara
34 nd recruited Mlh1-Pms1 on +1, +2, +3, and +4 insertion/deletions and CC, AA, and possibly GG mispairs
36 mostly the mmu-let-7 family display internal insertion/deletions and substitutions when compared to p
37 the effects of multiple mutations, including insertions, deletions and alternative splicing events, i
39 accumulates unbalanced rearrangements (novel insertions, deletions and duplications) more rapidly.
41 nges including gene and genome duplications, insertions, deletions and gene order rearrangements.
42 ta, such as single nucleotide polymorphisms, insertions, deletions and genome-wide association studie
44 ation on an intermediate scale--particularly insertions, deletions and inversions affecting from a fe
45 Structural variants, including duplications, insertions, deletions and inversions of large blocks of
48 l variation, including copy number variants, insertions, deletions and other structural variants (SVs
51 e major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 3
53 storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together
54 op SEQuel, a tool that corrects errors (i.e. insertions, deletions and substitution errors) in the as
55 ng the edit-distance (i.e. minimum number of insertions, deletions and substitutions) between short D
56 genome assembly, and make over 800 changes (insertions, deletions and substitutions) to refine this
57 and knock-ins, as well as single-nucleotide insertions, deletions and substitutions, in Pseudomonas
58 L979F Pol zeta in vitro include single-base insertions, deletions and substitutions, with the highes
59 vely, which recognize base-base mispairs and insertions/deletions and initiate the repair process.
63 e polymorphisms, simple sequence repeats and insertion/deletions) and location (exon and intron seque
64 variations (single nucleotide variations and insertion/deletions) and to help guide and summarize gen
65 a simple and versatile method for generating insertion, deletion, and point mutations on chromosomal,
66 on to precise excision, several "suppressor" insertion, deletion, and point mutations restore the wil
69 atasets, for all kinds of sequencing errors (insertion, deletion, and substitution), and for high and
70 ally validated all loss-of-function, inframe insertion/deletion, and missense variants predicted as d
71 s include >35,000 point mutations, 446 small insertion/deletions, and >6,000 genes affected by copy n
72 175 edits in human cells, including targeted insertions, deletions, and all 12 types of point mutatio
73 tural aberrations, including translocations, insertions, deletions, and complex reassembly through ch
74 e TGF-beta superfamily is dictated by unique insertions, deletions, and disulfide bonds rather than a
79 ite instability, increased number of somatic insertions/deletions, and altered mutation signatures in
81 t increases in base substitutions, small DNA insertions/deletions, and gross chromosomal rearrangemen
82 outcome, whereas missense, splice site, and insertion/deletions are less reliably associated with ag
86 ch is robust to the type of error (mismatch, insertion, deletion), as well as to the relative abundan
87 Deleted alleles also typically include small insertion/deletions at predicted deletion junctions.
89 ximately 98% of differences (including large insertion-deletions) between pairs of strains from three
90 rating a broader range of variations such as insertions/deletions, block substitutions, IUPAC codes s
91 accurate estimates on gene gains/losses (or insertions/deletions), but also reduces any concern of a
92 the recognition of base-base mismatches and insertions/deletions by bacterial MutS or eukaryotic MSH
93 tform that detects nucleotide substitutions, insertions/deletions, chromosomal translocations, copy n
94 qual in frequency to deletions, and compound insertion-deletions comprised only 0.1% of all events.
95 help to identify single nucleotide variants, insertions/deletions, copy number variations, and transl
96 7:H7 serotype based on a conserved signature insertion/deletion (CSI) located in the ybiX gene using
97 identify a series of novel set of mid-range insertion/deletion detection that were confirmed by targ
99 al analysis revealed a predominance of small insertion/deletion, duplication, and base substitution m
100 omirskiidae mitochondrial genomes are due to insertion/deletion/duplication of these elements rather
101 numts, we quantified the frequency of small insertions, deletions, duplications, and instances of mi
102 to identify genomic rearrangements, such as insertions, deletions, duplications, and inversions, com
103 tically compromised their ability to perform insertion/deletion editing and thereby generate mature f
104 A editing core complex (RECC) catalyze the U-insertion/deletion editing cascade to generate open read
106 gen, most mRNAs are internally modified by U-insertion/deletion editing while guide RNAs and rRNAs ar
108 ochondrial pre-mRNAs undergo massive uridine insertion/deletion editing, which creates open reading f
111 guishes length variants from noise including insertion/deletion errors in homopolymer runs by address
112 ated from one another by only 49 SNPs and 11 insertion-deletion events (indels) in the core genome.
113 single nucleotide variants (SNVs) and 79,529 insertion-deletion events that result in a total of 3.3
114 y of de novo copy number variants (CNVs) and insertion/deletion events (indels) is significantly elev
116 Comparison of nucleotide substitution and insertion/deletion events among different P. micropora s
118 emonstrate SLOPE's ability to rapidly detect insertion/deletion events of various sizes as well as tr
119 million rare single-nucleotide variants and insertion/deletion events, of which ~176,000 are predict
121 entrocyte subtype had high TP53 mutation and insertion/deletion frequencies and expressed LMO2, CD58,
122 ytical results for point mutations and small insertions/deletions from 3,281 tumours across 12 tumour
124 ic assemblies, including single-base errors, insertions/deletions, genome rearrangements and chimeric
125 number variations, mRNA and genomic SNP and insertion-deletion genotypes, or the expression of appro
126 and off-target read detection and quantifies insertions, deletions, HDR repair, as well as targeted b
127 MutSbeta (MSH2-MSH3) mediates repair of insertion-deletion heterologies but also triggers triple
128 (-675 4G/5G deletion/insertion) and tPA (Alu insertion/deletion [I/D]), are associated with strokes,
129 t preferentially process base-base and small insertion/deletion (ID) mispairs, respectively, despite
130 million single-nucleotide polymorphisms and insertions/deletions identified by whole-genome sequenci
131 recognition of DNA mismatches or nucleotide insertions/deletions (IDLs) by MutS and MutS homologues.
135 ariant that contains a recently evolved KGKY insertion/deletion in the third intracellular loop (ICL3
136 gonococcal MMC repairs mismatches and small insertion/deletions in DNA and also affects the recombin
137 of these fast evolving effectors through (i) insertion/deletions in loop regions between alpha-helice
139 s is suggested by the high prevalence of TTN insertion/deletions in the 1000 Genomes Project cohort.
140 The gene CDKN1B is inactivated by small insertions/deletions in 8% of patients with SI-NET sugge
143 sis revealed four nonsynonymous SNPs and two insertions/deletions in the susceptible allele of Las2,
147 slippage is a structural mechanism by which insertion-deletion (indel) mutations are introduced duri
148 The R genes tested to date segregate for insertion-deletion (indel) polymorphisms where susceptib
149 e the value of our approach by examining the insertion-deletion (indel) process in the enolase gene a
150 ence dissimilarity corresponds with the fast insertion-deletion (indel) rates observed in short monon
151 we show that each of 12 base substitution, 2 insertion/deletion (indel) and 6 rearrangement mutationa
152 nymous changes per gene and more than 16,000 insertion/deletion (indel) and copy number changes, prov
153 ective single-nucleotide polymorphism (SNP), insertion/deletion (INDEL) and copy number variation (CN
154 otgun sequencing (WGS) data, such as SNP and insertion/deletion (INDEL) calling, can also be achieved
155 report a phylogenetic analysis of genomewide insertion/deletion (indel) data, an approach conventiona
157 ukaryotic cells, resulting in frame-shifting insertion/deletion (indel) mutations and subsequent prot
159 SNPs by imputation P-value revealed a 30 bp insertion/deletion (indel) variant that was significantl
160 single-nucleotide variants (SNVs) and short insertion/deletion (indel) variants from deep whole-geno
161 atalog of millions of single nucleotides and insertion/deletion (INDEL) variants of the human populat
163 le-nucleotide substitutions (SNP/SNV), short insertions/deletions (INDEL) and structural variants/cop
165 impact on specific mutational classes (e.g., insertion/deletion [indel] vs. single nucleotide variant
167 ide variety of structural variants including insertion-deletions (indels), inversions and translocati
168 y single nucleotide polymorphisms (SNPs) and insertion-deletions (indels), perform SNP annotations an
169 landscape of quiescence is characterized by insertion/deletion (indels) accumulating as fast as sing
170 tect single nucleotide polymorphisms (SNPs), insertion/deletions (indels) by comparing high-throughpu
172 en single nucleotide variations (SNVs) and 2 insertion/deletions (INDELs) were identified; these muta
174 , single-nucleotide polymorphisms (SNPs) and insertions/deletions (indels) can result in altered on-t
175 single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 8
176 Reliable identification of expressed somatic insertions/deletions (indels) is an unmet need due to ar
179 amage, often result in unintended nucleotide insertions/deletions (indels) via mutagenic nonhomologou
180 ingle nucleotide polymorphisms (SNPs) and 25 insertions/deletions (indels) were detected in HvP5CS1 a
181 such as single-nucleotide polymorphisms and insertions/deletions (indels), and by sequencer errors m
182 tologic malignancies includes substitutions, insertions/deletions (indels), copy number alterations (
183 er, single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants (CNV
184 le single-nucleotide variants (SNVs), simple insertions/deletions (indels), multiple-nucleotide varia
185 rently composed of base substitutions, small insertions/deletions (InDels), structural variants, and/
186 orphisms (SNPs), 58,085 small and 2315 large insertions/deletions (indels), with highly correlated ge
189 ave predicted 4314 GRs including large-scale insertions, deletions, inversions and translocations bas
190 ble misaligned sequence reads for predicting insertions, deletions, inversions, tandem duplications a
191 eral thousand single nucleotide variants and insertions/deletions, it remains a challenge to analyze
192 ed mutations such as substitutions and small insertion/deletions, large structural alterations and co
194 te that, following the recognition of a 3-bp insertion-deletion loop mismatch, the MMR machinery sear
196 cleotides whereas MutSbeta recognizes longer insertion-deletion loops (IDLs) with 1 to 15 unpaired nu
198 s in MMR, Msh2-Msh6 binds mispairs and small insertion/deletion loops, and Msh2-Msh3 binds larger ins
201 homozygosity (TOH), repetitive elements, and insertion/deletions, may provide a comprehensive underst
202 four or more single nucleotide mismatches or insertion/deletion mismatches, as compared with the huma
203 of the 8 possible base:base mispairs, the +1 insertion/deletion mispair, and to a low level on the +2
204 o a low level on the +2 but not the +3 or +4 insertion/deletion mispairs and not on the CC mispair.
206 with the DNA conformations induced by small insertion/deletion mispairs than with those induced by l
207 ed defects in repair of both small and large insertion/deletion mispairs, whereas the second class ca
208 s caused defects only in the repair of small insertion/deletion mispairs; mutations of the first clas
209 onary models compatible with the affine-cost insertion/deletion model used in standard pairwise seque
210 This paper discusses progress in the area of insertion-deletion models, in view of recent work by Eza
211 Here, we review the mechanism of uridine insertion/deletion mRNA editing in kinetoplastid protist
212 However, guide RNAs (gRNAs) that direct U-insertion/deletion mRNA editing in mitochondria of trypa
214 Aside from nucleotide substitutions and insertion/deletions, multiple IS6110 transposition event
221 utations were further grouped as deletion or insertion-deletion mutations, substitution mutations, in
223 identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S
225 BRCA1 null breast tumors, there are specific insertion/deletion mutations located close to R-loop-med
226 were heterozygous missense or small in-frame insertion/deletion mutations occurring within one of the
227 We recently identified 2 patients with novel insertion/deletion mutations predicted to result in mRNA
228 nonymous single nucleotide polymorphisms and insertion/deletion mutations when our Weiss (n = 4) and
229 g-based detection confirmed specific genomic insertion/deletion mutations with 99.5% penetrance in so
230 contained 82 intraspecific substitution and insertion/deletion mutations, and provided evidence for
231 e also found that RNF8 suppresses EJ without insertion/deletion mutations, which is a hallmark of C-N
233 g schemes in mouse embryos, including indel (insertion/deletion) mutations, point mutations, large de
234 ct the genome in a variety of ways, creating insertions, deletions, new splice sites or gene expressi
238 ) of the new model reveal fast rates of gene insertions/deletions on recent branches, suggesting a fa
240 tructures emerge in evolution as a result of insertions, deletions or shuffling of fragments of under
241 an promote efficient introduction of desired insertions, deletions or substitutions at or near the cu
242 typic and genotypic tests were attributed to insertions/deletions or point mutations identified in O-
243 sent single nucleotide polymorphisms but are insertions/deletions originating from DNA replication sl
246 tudy tested the hypothesis that the ACE gene insertion/deletion polymorphism associates with AF recur
249 T-2) gene variants rs3217318, a 19-base-pair insertion/deletion polymorphism in the promoter region,
251 xysmal (59%) or persistent (41%) AF, the ACE insertion/deletion polymorphism was genotyped using poly
253 ells expressing TRBV4-3 because of a 21.5-kb insertion/deletion polymorphism, but these individuals r
254 ts derived from short tandem repeats (STRs), insertion deletion polymorphisms (indels) and single nuc
255 single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for associatio
256 e single-nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (indels) within bovine
258 000 is determined by coding, regulatory, and insertion/deletion polymorphisms at five chromosomal loc
260 escape was associated with substitutions and insertion/deletion polymorphisms in the V1 and V4 domain
261 p populations revealed that neither the IRGM insertion/deletion polymorphisms nor the CNV was associa
262 nsynonymous single nucleotide polymorphisms, insertion/deletion polymorphisms, or splice site alterin
263 ts included single-nucleotide polymorphisms, insertions/deletions, polynucleotide tracts, and differe
264 heless often edited with inversions or small insertion/deletions produced at CRISPR recognition sites
265 produces full atomic level models (including insertion/deletion regions) of protein complexes as long
266 coverage included 218 of 247 SNPs, 10 of 11 insertion/deletion regions, and the repeat elements IS10
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
274 ernative methods for all cloning procedures (insertions, deletions, site-directed mutagenesis and sub
276 A alignment, including alternative splicing, insertions, deletions, substitutions, sequencing errors
277 notate single nucleotide variants (SNVs) and insertions/deletions, such as examining their functional
278 ore critical for the recognition of small +1 insertion/deletions than larger +4 insertion/deletions.
279 on mispairs than with those induced by large insertion/deletions that are intrinsically bent and stra
282 lve subtle nucleotide substitutions (but not insertions/deletions) that exist between intragenomic co
283 derived from the sequence alignment without insertions/deletions, the outer carboxylates did not fac
284 are variants and more complex variants (e.g. insertions, deletions), their role in disease is as yet
285 Plastid-LCGbase facilitates gene variation (insertion-deletion, translocation and rearrangement) and
286 tion of mRNAs that require extensive uridine insertion/deletion (U-indel) editing for their maturatio
288 esults were obtained for 10,641,224 SNPs and insertion-deletion variants with minor allele frequencie
290 ed a strong enrichment of very low-frequency insertion/deletion variants, so far under-investigated,
295 ws biologists to discover potential point or insertion-deletion variations from cDNA-genome alignment
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