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Progress in the detection of human genome structural variations.

Science in China. Series C, Life sciences - 1 Jun 2009

WU XueMei, XIAO HuaSheng

Abstract excerpt

The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome. These variants include copy number variations (CNVs), inversions, insertions, deletions and other complex rearrangements of DNA sequences. This paper briefly reviews the commonly used technologies to discover both genomic structural variants and...

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PMID: 19557334
DOI: 10.1007/s11427-009-0078-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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