INDEL Mutation

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  Subject Areas on Research

  • A functional variant at miRNA-122 binding site in IL-1a 3' UTR predicts risk of recurrence in patients with oropharyngeal cancer. 
  • A global reference for human genetic variation. 
  • Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration. 
  • Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program. 
  • Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes. 
  • Evolutionary and biomedical insights from a marmoset diploid genome assembly. 
  • Fibronectin Conformation and Assembly: Analysis of Fibronectin Deletion Mutants and Fibronectin Glomerulopathy (GFND) Mutants. 
  • General olfactory sensitivity database (GOSdb): candidate genes and their genomic variations. 
  • Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium. 
  • Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial. 
  • Global analysis of genomic instability caused by DNA replication stress in Saccharomyces cerevisiae. 
  • HIV evolution in early infection: selection pressures, patterns of insertion and deletion, and the impact of APOBEC. 
  • Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. 
  • Immunoglobulin gene insertions and deletions in the affinity maturation of HIV-1 broadly reactive neutralizing antibodies. 
  • Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer. 
  • Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 
  • Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution. 
  • Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction. 
  • Popping Out MX Cassettes from Saccharomyces cerevisiae. 
  • Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers. 
  • Sequence context of indel mutations and their effect on protein evolution in a bacterial endosymbiont. 
  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. 
  • SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events. 
  • Slip into something more functional: selection maintains ancient frameshifts in homopolymeric sequences. 
  • The characterization of twenty sequenced human genomes. 
  • The core and accessory genomes of Burkholderia pseudomallei: implications for human melioidosis. 
  • The standing pool of genomic structural variation in a natural population of Mimulus guttatus. 
  • Whole-genome analyses resolve early branches in the tree of life of modern birds.