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

doi:10.1007/978-1-61779-507-7_1

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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...

Topics

Comparative Genomic Hybridization
DNA Copy Number Variations
DNA Repair
Gene Dosage
Gene Rearrangement
Genome, Human
Humans
In Situ Hybridization, Fluorescence
Microarray Analysis
Mosaicism
Phenotype
Recombination, Genetic
Sequence Analysis, DNA
Translocation, Genetic

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

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