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Structural variants: changing the landscape of chromosomes and design of disease studies.

Human molecular genetics - 15 Apr 2006

Feuk Lars, Marshall Christian R, Wintle Richard F, Scherer Stephen W

Abstract excerpt

The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly, using the DNA reference sequence as a guide, genome scanning technologies, such as microarray-based comparative genomic hybridization (array CGH) and genome-wide single nucleotide polymorphism (SNP) platforms, have now enabled the detection of a previously...

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PMID: 16651370
DOI: 10.1093/hmg/ddl057

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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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