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    • Towards a Comprehensive Structural Variation Map of an Individual Human Genome 

      Pang, Andy W; MacDonald, Jeffrey R; Pinto, Dalila; Wei, John; Conrad, Donald F; Park, Hansoo; Hurles, Matthew E; Kirkness, Ewen F; Feuk, Lars; Scherer, Stephen W; Rafiq, Muhammad A; Lee, Charles; Venter, J. Craig; Levy, Samuel Gideon (BioMed Central, 2010)
      Background: Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions ...