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  1. ...advantages of long-read technologies is its ability to generate highly contiguous sequences of large genomic regions, including complex and repetitive regions that are difficult to resolve using short-read technologies. This is particularly useful for applications such as structural variant (SV) detection...
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  2. ...that structural variation has been shown to be significantly enriched within regions of recent segmental duplication ( Iafrate et al. 2004 ; Sharp et al. 2005 ; Tuzun et al. 2005 ). It has been estimated that ∼20% of segmental duplications are polymorphic within the human and chimpanzee populations ( Cheng et al...
  3. ...metabolism. Due to the relatively high rate of polymorphism in cannabis, it should be possible to employ resequencing (e.g., low-coverage short-read Illumina protocols) either on crosses or at a population level to associate variants or variation with traits and genes, using the genetic map...
  4. ...(i.e., those not present in the reference genome), to find their insertion points, and to genotype them. Using these methods, we catalogued and analyzed 174 retroduplication variants in almost one thousand humans, which were sequenced as part of Phase 1 of The 1000 Genomes Project Consortium...
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