*  PLOS Genetics: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line
... indels), and translocations. We found 2,384,470 SNVs, 191,743 small indels, and 1,314 large structural variations. Known gene ... models were used to predict the effect of these mutations on protein-coding sequence. Mutational analysis revealed 512 genes ... The major mutational mechanisms in this brain cancer cell line are small indels and large structural variations. The genomic ... homozygously mutated, including 154 by SNVs, 178 by small indels, 145 by large microdeletions, and up to 35 by interchromosomal ...
  http://journals.plos.org/plosgenetics/article/comments?id=10.1371/journal.pgen.1000832
*  Celemics, Inc. | mRNA Sequencing
또한 mRNA에 존재하는 SNV(Single Nucleotide Variant), InDel(Insertion/Deletion), Gene Rearrangement 를 관찰할 수 있습니다. ... Somatic Mutation Cancer Kit , Hereditary Cancer Kit NGS Library Preparation Kit , Library Preparation Kit ...
  http://celemics.com/service/next-generation-sequencing/mrna-sequencing
*  Nilesh Banavali, Ph.D.
Dynamic mechanisms behind indel mutations and their sequence dependence in nucleic acid replication:. Base pairing, or its ... We have recently delineated the underlying 3D strand slippage mechanism by which a single base insertion or deletion (indel) ... the possibility of specific non-canonical interactions providing a direct mechanism for sequence dependence of indel mutations ... Banavali, JACS, 2013). This work is being applied to understand the introduction of such mutations during strand extension by ...
  https://www.wadsworth.org/print/senior-staff/nilesh-banavali
*  Examples of global statistics for a given project. Grap | Open-i
C) Distribution of indel sizes. Mentions: This section also provides graphical outputs comparing the average heterozygosity of ... indels) in many plant species. The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale ... indels) in many plant species. The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale ... SNiPlay detects SNPs and indels events and outputs submission files for the design of Illumina's SNP chips. Subsequently, it ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC3102043_1471-2105-12-134-4&req=4
*  SOS1 domain structure and location of residues altered | Open-i
INDEL Mutation/genetics. *Introns. *Male. *Mitogen-Activated Protein Kinase Kinases/genetics. *Mutation ... Residue Asp309 (uncharacterized mutation p.Asp309Tyr) is shown in purple. Affected residues are listed in Supp. Table S2. ... Residue Asp309 (uncharacterized mutation p.Asp309Tyr) is shown in purple. Affected residues are listed in Supp. Table S2. ... Bottom Line: Here, we explored further the spectrum of SOS1 mutations and their associated phenotypic features.Two previously ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC3118925_humu0032-0760-f1&req=4
*  METHODS AND COMPOSITIONS FOR RNA-GUIDED TREATMENT OF HIV INFECTION - TEMPLE UNIVERSITY OF THE COMMONWEALTH SYSTEM OF HIGHER...
... after LTR-C-induced indel mutation at the 96/102 sites, a 290 bp band (middle arrow) after LTR-D-induced mutations at the 372 ... or substitution mutation or a combination of such mutations). One or more of the substitution mutations can be a substitution ( ... 3B) and no indel mutations as verified by Sanger sequencing. PCR genotyping using primers targeting Cas9 and U6-LTR showed that ... 10B is a SURVEYOR assay that shows indel mutations (arrow) in the on-target LTR genome of Cas9/LTR-A/B transfected cells. J-Lat ...
  http://www.freepatentsonline.com/y2016/0250300.html
*  Clinical Genetics Publications, Clinical Genetics Group, University of Otago, New Zealand
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. ... Human Mutation, 33(11), 1520-1525.. *Cardoso, S., Robertson, S. P., & Daniel, P. B. (2012). TGFBR1 mutations associated with ... Mutations in two regions of FLNB result in atelosteogenesis I and III. Human Mutation, 27(7), 705-710. ... Human Mutation, 33(4), 665-673.. *Gray, M. J., Kim, C. A., Bertola, D. R., Arantes, P. R., Stewart, H., Simpson, M. A., ... ...
  http://www.otago.ac.nz/clinical-genetics/publications/index.html
*  Produktübersicht anti-Adracalin Antikörper
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. ... Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in ... In all children with mutation in AAAS gene, regular follow up of adrenal function is necessary to avoid adrenal crisis and ... The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein. ...
  http://www.antikoerper-online.de/abstract/Achalasia%2C+Adrenocortical+Insufficiency%2C+Alacrimia+
*  Highly Improved Gene Targeting by Germline-Specific Cas9 Expression in Drosophila | Genetics
29 had an indel mutation detected by both assays. Three mutations identified by DNA sequencing were not detectable in the T7EI ... In all mutant animals examined, we identified small indel mutations encompassing the target site (Figure 2B and Figure S3). ... B) Frequencies of mutations induced by Cas9-gRNA. For each gRNA, the mutation frequency is shown as a percentage of white ... The other two were less effective with mutation frequencies of 12 and 57%. In the female germline, mutation frequencies were ...
  http://www.genetics.org/content/195/3/715.full
*  Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High...
NOTE: Typically, indel mutations rarely result in more than a 100-bp difference in size; thus, peaks whose size differs by more ... When knocking out a gene is of interest, select clones whose indel mutations are not of multiples of 3 bp to ensure that there ... Second, the accuracy of the technique may suffer when indel mutations longer than 30 bp are involved. In our experience, the ... However, in our experience, a vast majority of mutants displayed very short indel mutation lengths (most are less than 5 bp). ...
  https://www.jove.com/video/55586/using-fluorescent-pcr-capillary-gel-electrophoresis-technique-to
*  Academic Journals
Indel mutation of the ADD1/SREBP-1c gene in the South Anatolian Red and East Anatolian Red cattle breeds ...
  http://journals.tubitak.gov.tr/veterinary/issue.htm?id=1095
*  Frontiers | Lpar2b Controls Lateral Line Tissue Size by Regulating Yap1 Activity in Zebrafish | Frontiers in Molecular...
At 24 hpf, injected embryos were randomly collected and genomic DNA were extracted to determine the indel mutations by DNA ... we generated genetic mutations of the lpar2b gene by the CRISR-Cas9 system in the background of Et(gata2:EGFP)mp189b. A guide- ... Xiao, T., Roeser, T., Staub, W., and Baier, H. (2005). A GFP-based genetic screen reveals mutations that disrupt the ... Mutation of the components of the Hippo pathway resulted in tissue overgrowth phenotypes (Zhou et al., 2009; Halder and Johnson ...
  https://www.frontiersin.org/articles/10.3389/fnmol.2018.00034/full
*  STR content in the exons of human disease genes. Absolu | Open-i
Results: We show that validated human indels are extremely common in STR regions compared to non-STR regions. In contrast to ... In addition, STRs constitute an obvious target when screening for rare mutations, because of the relatively low amount of STRs ... Results: We show that validated human indels are extremely common in STR regions compared to non-STR regions. In contrast to ... Long tandem repeats (e.g. microsatellites or simple repeats) are known to be hypermutable (indel-rich), but are rare in exons ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC2543027_1471-2164-9-410-5&req=4
*  Representative gel picture of XPC exon 15 (A|C) poly | Open-i
Genotyping were performed using amplification refractory mutation specific (ARMS) PCR methodology for OGG1 exon 7 (C,G) and ... Genotyping were performed using amplification refractory mutation specific (ARMS) PCR methodology for OGG1 exon 7 (C,G) and ... Genotypes were determined by amplification refractory mutation specific (ARMS) and PCR-restriction fragment length polymorphism ... Genotypes were determined by amplification refractory mutation specific (ARMS) and PCR-restriction fragment length polymorphism ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC3307187_IJMR-135-64-g004&req=4
*  Implementation of two-region transition matrix T. Silen | Open-i
The aim was to test the hypothesis that the indel mutation rate mimics the point mutation rate. That is, indels are found less ... The aim was to test the hypothesis that the indel mutation rate mimics the point mutation rate. That is, indels are found less ... Nevertheless, coupling the indel rates with the point substitution rates across the two regions markedly increased model fit. ... Nevertheless, coupling the indel rates with the point substitution rates across the two regions markedly increased model fit. ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC3064887_239_2010_9409_Fig4_HTML&req=4
*  Spiral: A global reference for human genetic variation
INDEL Mutation. Genetic Variation. Genome-Wide Association Study. High-Throughput Nucleotide Sequencing. Exome. Datasets as ... INDEL Mutation. Internationality. Physical Chromosome Mapping. Polymorphism, Single Nucleotide. Quantitative Trait Loci. Rare ... MUTATION. DISEASE. VARIANT. SUSCEPTIBILITY. INDIVIDUALS. Datasets as Topic. Demography. Disease Susceptibility. Exome. Genetic ... indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes ,99% of SNP variants ...
  https://spiral.imperial.ac.uk:8443/handle/10044/1/40662
*  Manhattan plot showing the rate of SNVs and InDels per | Open-i
Manhattan plot showing the rate of SNVs and InDels per 500kbp window for the autosomes and sex chromosome.The red line denotes ... 1. The top 1% of mutation rates was used to distinguish the significant peaks on the SNP and InDel distributions (the top 1% is ... 1. The top 1% of mutation rates was used to distinguish the significant peaks on the SNP and InDel distributions (the top 1% is ... For InDel variants, 20% of the identified INDELs were strain specific while 30% were common to all five KNC strains (Figure S6 ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC4263466_pone.0114763.g001&req=4
*  Profile | Exeter Medical School | University of Exeter
Housden BE, Perrimon N (2016). Detection of Indel Mutations in Drosophila by High-Resolution Melt Analysis (HRMA). Cold Spring ... Housden BE, Perrimon N (2016). Detection of Indel Mutations in Drosophila by High-Resolution Melt Analysis (HRMA). Cold Spring ... Detection of Indel Mutations in Drosophila by High-Resolution Melt Analysis (HRMA).. ... Detection of Indel Mutations in Drosophila by High-Resolution Melt Analysis (HRMA).. ...
  http://medicine.exeter.ac.uk/people/profile/index.php?web_id=Benjamin_Housden
*  The effect of QTL-rich region polymorphisms identified by targeted DNA-seq on pig production traits | SpringerLink
The present study showed that this INDEL mutation affected the growth traits particularly in PUL pigs, which belong to native ... Genotyping of selected mutations with the potential to become biomarkers. Five mutations with high potential were selected. The ... Allele: C wild, T mutation. Values with the same superscripts belong to the same statistical group (A, B = P , 0.01, a, b = P ... Allele: C wild, T mutation. Values with the same superscripts belong to the same statistical group (A. B = P , 0.01. a. b = P ...
  https://link.springer.com/article/10.1007/s11033-018-4170-3
*  Gap penalty - Wikipedia
However, not all indels are frameshift mutations. If indels occur in trinucleotides, the result is an extension of the protein ... Garcia-Diaz, Miguel (2006). "Mechanism of a genetic glissando: structural biology of indel mutations". Trends in Biochemical ... These two replication errors are insertions and deletions of single DNA bases from the DNA strand (indels). Indels can have ... or a frameshift mutation that may render the protein inactive. The biological consequences of indels are often deleterious and ...
  https://en.wikipedia.org/wiki/Gap_penalty
*  CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting | Genome...
Frameshifting indel mutations in CSN are described using only the nucleotide change, as is typical in clinical genomics. Many ... from 25 individuals with BRCA1 mutations and 25 individuals with BRCA2 mutations. The mutations had been identified by NGS ... CAVA indel annotation. To evaluate CAVA indel annotation in a typical clinical scenario we used the raw VCF data from a single ... A further issue is that many indels have different possible representations. Typically, this occurs when the indel occurs in a ...
  https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-015-0195-6
*  Dual Roles of Glutathione in Ecdysone Biosynthesis and Antioxidant Function During Larval Development in Drosophila | Genetics
To confirm indel mutations at the Gclc locus in each hemizygous lethal strain, we performed the T7EI assay as previously ... For this purpose, we combined Gclc46 mutation with PG-specific nobo RNAi. More than 70% of control larvae (FM7/Y; phm , dicer2 ... 1984 Mutations affecting the pattern of the larval cuticle in Drosophila melanogaster. I. Zygotic loci on the second chromosome ... Table 1 The larval arrest phenotype of nobo RNAi animals is enhanced by Gclc46 mutation. ...
  http://www.genetics.org/content/207/4/1519
*  CRISPR Gene Editing | Charles River
NHEJ is an error-prone repair pathway known to create indel mutations in the genome, and therefore often employed to generate ... In addition, the HDR pathway is used to introduce transgenes in safe harbor loci, generate specific mutations in a gene or ... B) However, sequencing identified 3 out of 4 of the resulting indels as small in-frame deletions; the frequency of homozygosity ... The Pharmacological Effects of Estrogen Receptor alpha Y537S and D538G Mutations Learn More. ...
  https://www.criver.com/products-services/discovery-services/vitro-biology/genome-engineering-techniques/crispr-gene-editing