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By J. MacDonald, M. Rafiq, Donald F. Conrad, Charles Lee, L. Feuk, Stephen W. Scherer. 2010
354 citations recorded by the source corpus.
View Paper: https://www.semanticscholar.org/paper/5aba1378801e5e0710dae0bd24f3a5a661d3fb9a
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Citations in the corpus
- Genome structural variation discovery and genotyping (2011, methodology): “For example, a genome assembly from capillary sequence reads from a human individual has been used to characterize 12,178 structural variant”
- Structural variant calling: the long and the short of it (2019, background): “While the average genomic variation between two humans is 0.1% in terms of single nucleotide variants (SNVs), when taking SVs into account, this increases to 1.5% [8].”
- Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing (2019, background): “The genomic difference between individuals caused by SVs has been estimated to be 3 – 10 times higher than that by SNVs [2, 6, 7].”
- The Database of Genomic Variants: a curated collection of structural variation in the human genome (2013, background): “In the past 10 years, new genomic technologies of increasing resolution have revealed SV to be ubiquitous in all human DNA and often involved in disease (1), with unbalanced alterations of DNA, called copy number variations (CNVs) or smaller insertion/deletion (indel) events encompassing an order of”