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Article

What have studies of genomic disorders taught us about our genome?

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2012

Simmons Alexandra D, Carvalho Claudia M B, Lupski James R

Abstract excerpt

The elucidation of genomic disorders began with molecular technologies that enabled detection of genomic changes which were (a) smaller than those resolved by traditional cytogenetics (less than 5 Mb) and (b) larger than what could be determined by conventional gel electrophoresis. Methods such as pulsed field gel electrophoresis (PFGE) and fluorescent in situ hybridization (FISH) could resolve such changes but...

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PMID: 22228005
DOI: 10.1007/978-1-61779-507-7_1

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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