Now showing items 1-5 of 5

    • Breakpoint refinement of genomic structural variation using split read analysis 

      İçen, Balanur (Bilkent University, 2019-10)
      Genomic variations that vary from single nucleotide polymorphisms (SNPs), small INDELs to structural variations (SVs) are discovered to have significant phenotypic effects on individuals. Among these genomic variations, ...
    • Discovery of large genomic inversions using long range information 

      Rasekh, M. E.; Chiatante, G.; Miroballo, M.; Tang, J.; Ventura M.; Amemiya, C. T.; Eichler, E. E.; Antonacci, F.; Alkan C. (BioMed Central Ltd., 2017)
      Although many algorithms are now available that aim to characterize different classes of structural variation, discovery of balanced rearrangements such as inversions remains an open problem. This is mainly due to the fact ...
    • Paralog-specific gene copy number discovery within segmental duplications 

      Doğru, Emre (Bilkent University, 2019-10)
      With the advancing technology in genome sequencing and analysis, it has become evident that the structural variations are the main source of alteration in human genome. Despite their signi cance in understanding disease ...
    • Rates and patterns of great ape retrotransposition 

      Hormozdiari, F.; Konkel, M. K.; Prado-Martinez, J.; Chiatante, G.; Herraez, I. H.; Walker, J. A.; Nelson, B.; Alkan, C.; Sudmant, P. H.; Huddleston, J.; Catacchio, C. R.; Ko, A.; Malig, M.; Baker, C.; Marques-Bonet, T.; Ventura, M.; Batzer, M. A.; Eichler, E. E. (National Academy of Sciences, 2013)
      We analyzed 83 fully sequenced great ape genomes for mobile element insertions, predicting a total of 49,452 fixed and polymorphic Alu and long interspersed element 1 (L1) insertions not present in the human reference ...
    • Toolkit for automated and rapid discovery of structural variants 

      Soylev, A.; Kockan, C.; Hormozdiari, F.; Alkan C. (Academic Press, 2017)
      Structural variations (SV) are broadly defined as genomic alterations that affect >50 bp of DNA, which are shown to have significant effect on evolution and disease. The advent of high throughput sequencing (HTS) technologies ...