Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

Genomic rearrangements can result in losses, amplifications, translocations and inversions of DNA fragments thereby modifying genome architecture, and potentially having clinical consequences. Many genomic disorders caused by structural variation have initially been uncovered by early cytogenetic me...

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Bibliographic Details
Published in:Heredity 2012-01, Vol.108 (1), p.75-85
Main Authors: Le Scouarnec, S, Gribble, S M
Format: Article
Language:English
Subjects:
Analytical methods
Chromosome Aberrations
Chromosome Breakpoints
Chromosome Mapping
Chromosome Painting
Chromosomes
Chromosomes, Human - genetics
Comparative Genomic Hybridization
Cytogenetics
Deoxyribonucleic acid
DNA
Genetic diversity
Genome, Human
Genome-Wide Association Study
Genomes
Genomics
High-Throughput Nucleotide Sequencing
Humans
Neoplasms - genetics
Oligonucleotide Array Sequence Analysis
Polymorphism, Single Nucleotide
Review
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Summary:Genomic rearrangements can result in losses, amplifications, translocations and inversions of DNA fragments thereby modifying genome architecture, and potentially having clinical consequences. Many genomic disorders caused by structural variation have initially been uncovered by early cytogenetic methods. The last decade has seen significant progression in molecular cytogenetic techniques, allowing rapid and precise detection of structural rearrangements on a whole-genome scale. The high resolution attainable with these recently developed techniques has also uncovered the role of structural variants in normal genetic variation alongside single-nucleotide polymorphisms (SNPs). We describe how array-based comparative genomic hybridisation, SNP arrays, array painting and next-generation sequencing analytical methods (read depth, read pair and split read) allow the extensive characterisation of chromosome rearrangements in human genomes.
ISSN:0018-067X
1365-2540
DOI:10.1038/hdy.2011.100